12,640 results on '"Germ cell tumors"'
Search Results
2. Advancing GCT Management: A Review of miR-371a-3p and Other miRNAs in Comparison to Traditional Serum Tumor Markers
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Seales, Crystal L, Puri, Dhruv, Yodkhunnatham, Nuphat, Pandit, Kshitij, Yuen, Kit, Murray, Sarah, Smitham, Jane, Lafin, John T, and Bagrodia, Aditya
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Cancer ,Clinical Research ,Genetics ,Biotechnology ,4.1 Discovery and preclinical testing of markers and technologies ,Detection ,screening and diagnosis ,4.2 Evaluation of markers and technologies ,germ cell tumors ,biomarkers ,serum tumor markers ,miRNAs ,Oncology and carcinogenesis - Abstract
MicroRNAs, short non-protein coding RNAs, are overexpressed in GCTs. Circulating levels of germ cell tumor (GCT)-associated miRNAs, such as miR-371a-3p, can be utilized as efficient and cost-effective alternatives in diagnosing and managing patients presenting with GCTs. This quality of miRNAs has demonstrated favorable performance characteristics as a reliable blood-based biomarker with high diagnostic accuracy compared to current serum tumor markers (STMs), including α-fetoprotein (AFP), beta human chorionic gonadotropin (β-hCG), and lactate dehydrogenase (LDH). The conventional STMs exhibit limited specificity and sensitivity. Potential clinical implications of miRNAs include impact on de-escalating or intensifying treatment, detecting recurrence at earlier stages, and lessening the necessity of cross-sectional imaging or invasive tissue biopsy for non-teratomatous GCTs. Here, we also highlight the outstanding issues that must be addressed prior to clinical implementation. Standards for measuring circulating miRNAs and determining ideal cutoff values are essential for integration into current clinical guidelines.
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- 2024
3. Auto Transplant for High Risk or Relapsed Solid or CNS Tumors
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- 2024
4. High‐dose chemotherapy and peripheral blood stem cell transplantation as salvage therapy in primary mediastinal nonseminomatous germ cell tumors: The Indiana University experience.
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Richardson, Noah H., Taza, Fadi, Abonour, Rafat, Althouse, Sandra K., Ashkar, Ryan, Abu Zaid, Mohammad, Hanna, Nassar H., Kesler, Kenneth A., Adra, Nabil, and Einhorn, Lawrence H.
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SALVAGE therapy , *OVERALL survival , *SURVIVAL rate , *BLOOD cells , *COMBINATION drug therapy , *STEM cell transplantation , *GERM cell tumors - Abstract
Background: Patients with relapsed primary mediastinal nonseminomatous germ cell tumor have low cure rates with salvage chemotherapy or surgery. The authors report survival outcomes of patients who received high‐dose chemotherapy (HDCT) and peripheral blood stem cell transplantation (PBSCT) at Indiana University. Methods: The prospectively maintained Indiana University germ cell tumor database identified 32 patients with primary mediastinal nonseminomatous germ cell tumor who progressed after first‐line cisplatin‐based combination chemotherapy and received HDCT and PBSCT between 2006 and 2021. Therapy included two consecutive courses of HDCT consisting of 700 mg/m2 carboplatin and 750 mg/m2 etoposide, each for 3 consecutive days, and each followed by PBSCT. A second course was not given if the patient experienced progressive disease or prohibitive toxicity. Progression‐free survival and overall survival were analyzed using the Kaplan–Meier method. Medians with 95% confidence intervals were also calculated along with 2‐year probabilities. Results: The median age at HDCT was 30 years (range, 18–61 years). With a median follow‐up of 4.7 years (range, 1–14 years), the 2‐year progression‐free survival rate was 31% (95% confidence interval, 16%–47%), and the 2‐year overall survival rate was 35% (95% confidence interval, 19%–52%). At last follow‐up, nine patients (28%) remained without evidence of disease, including two platinum‐refractory patients and two patients who were receiving HDCT as third‐line therapy. There were three treatment‐related deaths. Conclusions: Salvage HDCT and PBSCT is an active combination in patients who have relapsed primary mediastinal nonseminomatous germ cell tumor with curative potential and prolonged survival, including in platinum‐refractory and third‐line settings. The authors recommend this approach for initial salvage chemotherapy in this patient population. Patients who have relapsed primary mediastinal nonseminomatous germ cell tumors have poor outcomes with salvage chemotherapy. The authors report the results of high‐dose chemotherapy and peripheral blood stem cell transplantation, which permit more rapid succession to the subsequent cycle and potentially improved efficacy compared with historical regimens. [ABSTRACT FROM AUTHOR]
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- 2024
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5. Primary yolk sac tumor of the endometrium combined with situs inversus totalis: a case report and literature review.
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Liu, Rong, Wang, Yanru, Wang, Xinfeng, Chen, Xiujie, and Hu, Jiangong
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SITUS inversus , *LYMPHADENECTOMY , *LITERATURE reviews , *ENDOMETRIAL tumors , *CYTOREDUCTIVE surgery - Abstract
Background: Yolk sac tumor (YST) is a highly malignant germ cell tumor, a majority of which originate from the gonads and are extremely rare from endometrium. Case presentation: Here we present a case of a 42-year-old woman suffered from primary pure yolk sac tumor of the endometrium complicated with situs inversus totalis. The patient presented at our hospital with irregular vaginal bleeding. Imageological examination showed a space-occupying lesion in the cervix and the serum Alpha-fetoprotein (AFP) level was significantly high (more than 1210ng/ml). Then she underwent total hysterectomy, bilateral salpingo-oophorectomy and pelvic lymph node dissection. The subsequent postoperative pathological diagnosis was yolk sac tumor arising from the endometrium. Next, the patient was treated with 6 cycles of chemotherapy with Pingyangmycin, etoposide and cisplatin regimen and was alive without evidence of recurrence or distant metastases for 13 months. Conclusions: This rare disease needs to be differentiated from endometrial epithelial neoplasia and the significant increase in AFP is helpful for diagnosis. Combined with previous literature reports, comprehensive staging laparotomy or maximum cytoreductive surgery complemented by standard chemotherapy can usually achieve a good efficacy. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Molecular and epigenetic ex vivo profiling of testis cancer-associated fibroblasts and their interaction with germ cell tumor cells and macrophages.
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Stephan, Alexa, Suhrmann, Jan-Henrik, Skowron, Margaretha A., Che, Yue, Poschmann, Gereon, Petzsch, Patrick, Kresbach, Catena, Wruck, Wasco, Pongratanakul, Pailin, Adjaye, James, Stühler, Kai, Köhrer, Karl, Schüller, Ulrich, and Nettersheim, Daniel
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GERM cell tumors , *EXTRACELLULAR matrix , *TUMOR microenvironment , *FIBROBLASTS , *DNA methylation - Abstract
• In germ cell tumors (GCT), especially seminoma and embryonal carcinoma activate cancer-associated fibroblasts (CAF), while teratoma play only a minor role in CAF formation. • CAF influence proliferation and expression of cisplatin resistance factors as well as organization of the extracellular matrix in GCT cells, putatively involving IGF signaling and LGALS3BP, LYVE1, and PTX3. • CAF influence monocyte / macrophage polarization via LGALS3BP, LYVE1, and PTX3. • Therapeutically interfering with CAF (IGF signaling) and / or macrophages in addition to the standard therapy might slow-down further progression of the GCT disease and re-shaping of the tumor microenvironment. • Thus, the vital interaction between GCT cells, CAF and macrophages is pivotal for shaping the tumor microenvironment, activating CAF, polarizing macrophages, and triggering GCT progression and response to a cisplatin-based therapy. Germ cell tumors (GCT) are the most common solid tumors in young men of age 15 - 40. In previous studies, we profiled the interaction of GCT cells with cells of the tumor microenvironment (TM), which showed that especially the 3D interaction of fibroblasts (FB) or macrophages with GCT cells influenced the growth behavior and cisplatin response as well as the transcriptome and secretome of the tumor cells, suggesting that the crosstalk of these cells with GCT cells is crucial for tumor progression and therapy outcome. In this study, we shed light on the mechanisms of activation of cancer-associated fibroblasts (CAF) in the GCT setting and their effects on GCT cells lines and the monocyte cell line THP-1. Ex vivo cultures of GCT-derived CAF were established and characterized molecularly and epigenetically by performing DNA methylation arrays, RNA sequencing, and mass spectrometry-based secretome analysis. We demonstrated that the activation state of CAF is influenced by their former prevailing tumor environment in which they have resided. Hereby, we postulate that seminoma (SE) and embryonal carcinoma (EC) activate CAF, while teratoma (TER) play only a minor role in CAF formation. In turn, CAF influence proliferation and the expression of cisplatin sensitivity-related factors in GCT cells lines as well as polarization of in vitro -induced macrophages by the identified effector molecules IGFBP1, LGALS3BP, LYVE1, and PTX3. Our data suggests that the vital interaction of CAF with GCT cells and with macrophages has a huge influence on shaping the extracellular matrix as well as on recruitment of immune cells to the TM. In conclusion, therapeutically interfering with CAF and / or macrophages in addition to the standard therapy might slow-down progression of GCT and re-shaping of the TM to a tumor-promoting environment. Significance: The interaction of CAF with GCT and macrophages considerably influences the microenvironment. Thus, therapeutically interfering with CAF might slow-down progression of GCT and re-shaping of the microenvironment to a tumor-promoting environment. [ABSTRACT FROM AUTHOR]
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- 2024
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7. Malignant Para-Testicular Mesothelioma: A Rare Presentation in the Tunica Vaginalis of an Elderly Male With No Prior Asbestos Exposure.
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Shaker, Nada, Blankenship, Heath, Shaker, Nuha, Ben Musa, Ruwaida, Niu, Shuo, Alrohaibani, Alaaeddin, Mansoor, Ibrahim, Abu Shakra, Rafat, and Sangueza, Omar P.
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GERM cell tumors , *ADENOMATOID tumors , *SYMPTOMS , *THERAPEUTICS , *OLDER patients - Abstract
Malignant mesothelioma of the tunica vaginalis is an extremely rare and aggressive tumor that is frequently encountered in elderly patients. The diagnosis of malignant mesothelioma of the tunica vaginalis poses a diagnostic challenge due to its infrequency and nonspecific clinical presentation. Histopathological examination and immunohistochemical staining are essential in differentiating this tumor from other para-testicular masses and establishing a definitive diagnosis. Early detection and comprehensive treatment planning are crucial for improving the prognosis and overall outcomes for patients with this rare malignancy. We present a report of malignant mesothelioma of the tunica vaginalis in a 78-year-old male patient with no history of asbestos exposure who presented with a large infiltrative left para-testicular mass. Histopathological examination revealed a biphasic proliferation composed of epithelioid and spindle cells with infiltrative features, foci of necrosis, and increased mitotic figures. Immunohistochemical staining exhibited positive staining for WT1, D2-40, and calretinin, supporting the mesothelial origin of the tumor. Notably, BerEP4 staining was negative, arguing against carcinoma. Immunostaining for keratin 5 was positive, supporting the mesothelial differentiation. The Ki67 proliferation index was high. The differential diagnosis included adenomatoid tumors, germ cell tumors, and pleomorphic sarcoma. We aim to discuss the clinical presentation, diagnostic approach, and therapeutic approaches of this rare entity. [ABSTRACT FROM AUTHOR]
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- 2024
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8. Vasospasm and subsequent stroke from paraneoplastic syndrome in a pediatric patient with an intracranial mature teratoma: a case report.
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Jenson, Amanda V., Rizvi, Ali Yunus, Reynolds, Rebecca A., Hartnett-Wright, Sara, Gellar, Thomas J., Stapleton, Stacie, Gonzalez-Gomez, Ignacio, Akbari, S. Hassan A., and Smyth, Matthew D.
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CHILD patients , *STROKE , *PARANEOPLASTIC syndromes , *TERATOMA , *SYNDROMES in children , *LACUNAR stroke , *GERM cell tumors - Abstract
Teratomas account for 18–20% of all intracranial germ cell tumors and mostly occur in the pineal region with only a few cases of pediatric sellar and suprasellar teratomas described in the literature. Here, we present a case of a child with an intracranial mature teratoma with pancreatic features causing vasospasm and subsequent stroke, found to be positive for CDKN2A—an independent variant associated with malignancy and small vessel disease leading to stroke. [ABSTRACT FROM AUTHOR]
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- 2024
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9. A case of a pineal parenchymal tumor of intermediate differentiation with bifocal lesions differentiated by negative placental alkaline phosphatase in the spinal fluid.
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Ito, Koki, Aihara, Yasuo, Chiba, Kentaro, Oda, Yuichi, and Kawamata, Takakazu
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GERM cell tumors , *CEREBROSPINAL fluid , *MAGNETIC resonance imaging , *ALKALINE phosphatase , *TUMOR markers - Abstract
Placental alkaline phosphatase (PLAP) in the spinal fluid is helpful for the diagnosis of intracranial germinomas. Bifocal lesions involving the pineal and pituitary regions have also been reported as characteristic findings of intracranial germinomas. We present a rare case of a 15-year-old boy with a pineal parenchymal tumor of intermediate differentiation (PPTID) with bifocal lesions negative for PLAP. Magnetic resonance imaging of the brain revealed bifocal mass lesions in the pineal and suprasellar regions and non-communicating hydrocephalus. We initially suspected a germinoma based on imaging findings, but all tumor markers, including PLAP, in the spinal fluid were negative. Based on these results, germinoma was considered less likely, and an endoscopic third ventriculostomy and endoscopic tumor biopsy were performed for diagnosis. The histopathological diagnosis was PPTID, corresponding to World Health Organization grade 3, in both pineal and suprasellar specimens. A craniotomy for tumor removal was performed, resulting in total resection. PLAP is known to have high sensitivity and extremely high negative predictive value for germinomas. Although bifocal lesions highly suggest germ cell tumors, there are exceptions, as in the present case. This case suggests that PLAP measurements are useful for differentiation, leading to appropriate treatment strategies. [ABSTRACT FROM AUTHOR]
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- 2024
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10. Germ cell tumors, cell surface markers, and the early search for human pluripotent stem cells.
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Andrews, Peter W.
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PLURIPOTENT stem cells , *HUMAN stem cells , *GERM cell tumors , *STEM cells , *LABORATORY mice - Abstract
Many strands of research by different groups, starting from teratocarcinomas in the laboratory mouse, later moving the corresponding human tumors, contributed to the isolation and description of human pluripotent stem cells (PSCs). In this review, I highlight the contributions from my own research, particularly at the Wistar Institute during the 1980s, when with my colleagues we characterized one of the first clonal lines of pluripotent human embryonal carcinoma (EC) cells, the stem cells of teratocarcinomas, and identified key features including cell surface antigen markers that have since found a place in the study and exploitation of human PSC. Much of this research depended upon close teamwork with colleagues, many in other laboratories, who contributed different expertise and experience. It was also often driven by circumstance and chance rather than pursuit of a grand design. [ABSTRACT FROM AUTHOR]
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- 2024
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11. A comprehensive overview of liquid biopsy applications in pediatric solid tumors.
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Janssen, Ferdinand W., Lak, Nathalie S. M., Janda, Claudia Y., Kester, Lennart A., Meister, Michael T., Merks, Johannes H. M., van den Heuvel-Eibrink, Marry M., van Noesel, Max M., Zsiros, Jozsef, Tytgat, Godelieve A. M., and Looijenga, Leendert H. J.
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GERM cell tumors ,KIDNEY tumors ,SARCOMA ,LIVER tumors ,EWING'S sarcoma - Abstract
Liquid biopsies are emerging as an alternative source for pediatric cancer biomarkers with potential applications during all stages of patient care, from diagnosis to long-term follow-up. While developments within this field are reported, these mainly focus on dedicated items such as a specific liquid biopsy matrix, analyte, and/or single tumor type. To the best of our knowledge, a comprehensive overview is lacking. Here, we review the current state of liquid biopsy research for the most common non-central nervous system pediatric solid tumors. These include neuroblastoma, renal tumors, germ cell tumors, osteosarcoma, Ewing sarcoma, rhabdomyosarcoma and other soft tissue sarcomas, and liver tumors. Within this selection, we discuss the most important or recent studies involving liquid biopsy-based biomarkers, anticipated clinical applications, and the current challenges for success. Furthermore, we provide an overview of liquid biopsy-based biomarker publication output for each tumor type based on a comprehensive literature search between 1989 and 2023. Per study identified, we list the relevant liquid biopsy-based biomarkers, matrices (e.g., peripheral blood, bone marrow, or cerebrospinal fluid), analytes (e.g., circulating cell-free and tumor DNA, microRNAs, and circulating tumor cells), methods (e.g., digital droplet PCR and next-generation sequencing), the involved pediatric patient cohort, and proposed applications. As such, we identified 344 unique publications. Taken together, while the liquid biopsy field in pediatric oncology is still behind adult oncology, potentially relevant publications have increased over the last decade. Importantly, steps towards clinical implementation are rapidly gaining ground, notably through validation of liquid biopsy-based biomarkers in pediatric clinical trials. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Discriminating Malignant from Benign Testicular Masses Using Multiparametric Magnetic Resonance Imaging—A Prospective Single-Center Study.
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Törzsök, Peter, Deininger, Susanne, Abenhardt, Michael, Oswald, David, Lusuardi, Lukas, Deininger, Christian, Forstner, Rosemarie, Meissnitzer, Matthias, Brandtner, Herwig, and Hecht, Stefan
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CONTRAST-enhanced magnetic resonance imaging , *DIFFUSION magnetic resonance imaging , *MAGNETIC resonance imaging , *GERM cell tumors , *BENIGN tumors - Abstract
Objective: The objective of this study was to prospectively assess the extent to which magnetic resonance imaging (MRI) can differentiate malignant from benign lesions of the testis. Materials and Methods: All included patients underwent multiparametric testicular MRI, including diffusion-weighted imaging (DWI) and subtraction dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI). Subsequently, all patients underwent a histopathological examination via orchiectomy or testicular biopsy/partial resection. The Kolmogorov–Smirnov test, t-test, Mann–Whitney U test, Fisher's exact test, and logistic regression were applied for statistical analysis. Results: We included 48 male patients (median age 37.5 years [range 18–69]) with testicular tumors. The median tumor size on MRI was 2.0 cm for malignant tumors and 1.1 cm for benign tumors (p < 0.05). A statistically significant difference was observed for the type (type 0-III curve, p < 0.05) and pattern of enhancement (homogeneous, heterogeneous, or rim-like, p < 0.01) between malignant and benign tumors. The minimum apparent diffusion coefficient (ADC) value was 0.9 for benign tumors and 0.7 for malignant tumors (each ×103 mm2/s, p < 0.05), while the mean ADC was 0.05. The mean ADC value was significantly lower for malignant tumors; the mean ADC value was 1.1 for benign tumors and 0.9 for malignant tumors (each ×103 mm2/s, p < 0.05). The sensitivity, specificity, positive predictive value, and negative predictive value of multiparametric MRI for differentiating malignant from benign testicular lesions were 94.3%, 76.9%, 91.7%, and 83.3%, respectively. The surgical procedures performed included orchiectomy (n = 33; 71.7%) and partial testicular resection (n = 11; 23.9%). Histopathology (HP) revealed malignancy in 35 patients (72.9%), including 26 with seminomas and 9 with non-seminomatous germ cell tumors (NSGCTs). The HP was benign in 13 (27.1%) patients, including 5 with Leydig cell tumors. Conclusions: Malignant and benign tumors differ in MRI characteristics in terms of the type and pattern of enhancement and the extent of diffusion restriction, indicating that MRI can be an important imaging modality for the accurate diagnosis of testicular lesions. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Long-Term Survival in an Adolescent and Young Adult with Metastatic Relapse of an Undifferentiated Embryonal Sarcoma of the Liver.
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Luong, Thi Thao Vi, Mitchell, Catherine, Lokan, Julie, Ng, Jessica, and Lewin, Jeremy
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THERAPEUTIC use of antineoplastic agents , *LIVER tumors , *SARCOMA , *CANCER relapse , *IFOSFAMIDE , *TREATMENT effectiveness , *METASTASIS , *ADJUVANT chemotherapy , *VINCRISTINE , *ETOPOSIDE , *COMBINED modality therapy , *DOXORUBICIN , *HEPATECTOMY , *GERM cell tumors , *CYCLOPHOSPHAMIDE , *ADULTS - Abstract
Undifferentiated embryonal sarcoma of the liver (UESL) is an extremely rare and aggressive malignancy in adults.1 Adults with UESL have a worse prognosis compared to pediatric population.2 Due to the rarity of this disease in adults, there has been a lack of information that assists in treatment decisions within this group. Improved understanding of UESL in adults might assist in understanding biological differences compared to pediatric cohorts as well as tailor treatments to improve their overall outcome. We described the management and outcome of a young adult managed at our center with metastatic relapsed UESL. For comparison, a PubMed search for adolescent and young adult (AYA) and adults with UESL was performed with the aim to review and address any distinct clinical features, different aspects of management and survival outcomes within this population. A 21-year-old male underwent right hepatectomy for a large 16 cm localized UESL with clear surgical margin and did not receive adjuvant chemotherapy. Seven months postsurgery, he relapsed with both local and metastatic disease and underwent chemotherapy with vincristine, doxorubicin, cyclophosphamide alternating with ifosfamide and etoposide achieving a complete metabolic response. This was followed by Stereotactic Ablative Radiation Therapy and surgical resection of residual disease. He remains free of disease 3 years since his diagnosis. We subsequently reviewed 42 AYA and adults (aged >15) with UESL (median age, 33 years) between 1991 and 2022. Most patients presented with localized UESL and for those treated with surgery alone, 67% developed recurrences. Those receiving multimodality treatment, better outcomes, and reduced relapse rate was achieved. Twenty-seven patients developed recurrences, 13 with local recurrences and 14 with metastatic relapse. The median time to relapse was 12 months. We reported a successful outcome in multimodality treatment which resulted in long remission in a young adult with relapsed UESL. Combination of perioperative chemotherapy with locoregional treatment is important to improve long-term survival in adults with metastatic UESL. [ABSTRACT FROM AUTHOR]
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- 2024
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14. Restricted access and advanced disease in post-pandemic testicular cancer.
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Fagan, Mitchell, Ian Janes, W. C., Andrews, Matthew, Harvey, David R., Warden, Geoff M., Organ, Michael K., and Johnston, Paul
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HEALTH services accessibility , *PRIMARY health care , *RETROSPECTIVE studies , *DESCRIPTIVE statistics , *METASTASIS , *STAY-at-home orders , *MEDICAL records , *ACQUISITION of data , *TESTIS tumors , *COVID-19 pandemic , *GERM cell tumors - Abstract
Introduction: Urologists observed reduced cancer consultations and surgeries during the SARS-CoV-2 pandemic, raising concern about treatment delays. Testicular cancer serves as a particularly sensitive marker of this phenomenon, as the clinical stage of testicular cancer at presentation is predictive of cancerspecific survival. We aimed to investigate whether COVID-related restrictions to primary care access resulted in increased incidence of metastatic germ cell testis cancer. Methods: A retrospective chart review was conducted on all cases of testicular cancer managed surgically at our center from March 1, 2018, to February 28, 2023. Patients were categorized into temporal cohorts, representing before, during, and following the implementation of COVID-19 public health restrictions in the province of Newfoundland and Labrador. Results: Forty-one cases of testicular germ cell tumors were identified during the study period. The mean age at diagnosis was 40.8 years (standard deviation ±13.7). Demographics did not vary across the cohorts. Clinical stage 3 disease remained stable before and during the pandemic at 10.5% and 9.1% of cases, respectively. In the post-pandemic period, there was an increase to 27.3% (p=0.617). Surgical wait times remained stable across the pandemic (p=0.151). Conclusions: There was a 16.8% rise in clinical stage III disease from the pre-pandemic to postpandemic period. Our study failed to identify a statistically significant increase in metastatic testis cancer incidence upon lifting of pandemic restrictions. Further study is necessary to confirm suspicions that pandemic restrictions contributed to increased incidence of metastatic testis cancer. [ABSTRACT FROM AUTHOR]
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- 2024
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15. Prognostic factors of 87 ovarian yolk sac tumor (OYST) patients and molecular characteristics of persistent and recurrent OYST.
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Liang, Shanhui, Ge, Huijuan, Zhou, Shuling, Tang, Jie, Gu, Yanzi, Wu, Xiaohua, and Li, Jin
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OVERALL survival , *IMMUNE checkpoint proteins , *GERM cell tumors , *ATP-binding cassette transporters , *PROGNOSIS - Abstract
We aimed to explore the characteristics of OYST, particularly for persistent and recurrent OYST, in order to explore potential treatment options and thereby improve patient outcomes. We retrospectively reviewed the clinical records of all patients with OYST at Fudan university Shanghai Cancer Center from December 3, 2005 to November 27, 2020. Furthermore, and performed whole-exome sequencing on 17 paired OYST (including 8 paired persistent and recurrent OYST) tumor and blood samples to elucidate the aberrant molecular features. Totally, 87 OYST patients were included between 2007/03/13 and 2020/11/17. With a median follow-up of 73 [3–189] months, 22 patients relapsed or disease persisted. Overall, 17 patients died with a median overall survival of 21 [3–54] months. Univariate and multivariate analysis revealed tumor histology and residual lesions were independently associated with event free survival and overall survival, cycles to AFP normalization were another independent risk factor for overall survival. For the 8 persistent and recurrent OYST: cancer driver genes including ANKRD36, ANKRD62, DNAH8, MUC5B, NUP205, RYR2, STARD9, MUC16, TTN, ARID1A and PIK3CA were frequently mutated; cell cycle, ABC transporters, HR, NHEJ and AMPK signal pathway demonstrated as the most significantly enriched pathways; TMB, DNA MMR gene mutation and MSI were significantly higher. Mutation signature 11, 19 and 30 were the dominant contributors in persistent and recurrent OYST mutation. Persistent and recurrent OYST associated with poor prognosis, and probably susceptible to immune checkpoint blockade therapy. Molecular characteristics contributed to predict the persistence and recurrence of OYST. • OYST tumor histology and residual lesions were independently associated with event free survival. • OYST histology, residual lesions and cycles to AFP normalization were independent risk factors for OYST overall survival. • Persistent and recurrent OYST demonstrated distinct molecular characteristics compared with primary OYST. • Persistent and recurrent OYST probably susceptible to immune checkpoint blockade therapy. [ABSTRACT FROM AUTHOR]
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- 2024
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16. Prenatal diagnosis of meningomyelocele resolves as a mature cystic teratoma in the thoracolumbar region.
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Chen-Carrington, Annie, Leonard, Dean, Goodreau, Adam, Rhodes, Jennifer, and Tye, Gary W.
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TERATOMA , *MYELOMENINGOCELE , *PRENATAL diagnosis , *SACROCOCCYGEAL region , *SPINA bifida , *ARNOLD-Chiari deformity , *GERM cell tumors - Abstract
A mature cystic teratoma is a mass with heterogeneous appearance, consisting of adult tissue with two or three layers: endoderm, mesoderm, and ectoderm. It is a rare, benign transformation of somatic tissue most commonly found in the sacrococcygeal region and may resemble an uncomplicated spina bifida on prenatal ultrasonography. In this case report, we describe a female newborn with an extremely rare mature cystic teratoma in the thoracolumbar region. She presented prenatally with a preliminary diagnosis of meningomyelocele, diastematomyelia, and Chiari II malformation and a possible teratoma. However, a mass containing solid glandular tissues and bony calcifications approximately 3 × 4 cm in size was observed in the thoracolumbar region upon birth. During surgical resection, no nerve roots were found in the associated meningocele. The patient retained full lower body function postoperatively following surgical excision of the thecal sac and teratoma. [ABSTRACT FROM AUTHOR]
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- 2024
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17. Imaging in malignant germ cell tumors involving the hypothalamo-neurohypophyseal axis: the evaluation of the posterior pituitary bright spot is essential.
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Stock, Annika, Calaminus, Gabriele, Weisthoff, Mathilda, Serfling, Julia, Pietsch, Torsten, Bison, Brigitte, Pham, Mirko, and Warmuth-Metz, Monika
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HYPOTHALAMUS anatomy , *PITUITARY gland , *DIABETES insipidus , *MAGNETIC resonance imaging , *RETROSPECTIVE studies , *DESCRIPTIVE statistics , *METASTASIS , *MEDICAL records , *ACQUISITION of data , *NEURORADIOLOGY , *GERMINOMA , *DELAYED diagnosis , *GERM cell tumors ,BRAIN tumor diagnosis - Abstract
Purpose: Malignant intracranial germ cell tumors (GCTs) are rare diseases in Western countries. They arise in midline structures and diagnosis is often delayed. We evaluated imaging characteristics and early tumor signs of suprasellar and bifocal GCT on MRI. Methods: Patients with the diagnosis of a germinoma or non-germinomatous GCT (NGGCT) who received non-contrast sagittal T1WI on MRI pre-therapy were included. Loss of the posterior pituitary bright spot (PPBS), the expansion and size of the tumor, and the expansion and infiltration of surrounding structures were evaluated. Group comparison for histologies and localizations was performed. Results: A total of 102 GCT patients (median age at diagnosis 12.3 years, range 4.4–33.8; 57 males; 67 in suprasellar localization) were enrolled in the study. In the suprasellar cohort, NGGCTs (n = 20) were noticeably larger than germinomas (n = 47; p <.001). Each tumor showed involvement of the posterior lobe or pituitary stalk. A PPBS loss (total n = 98) was observed for each localization and entity in more than 90% and was related to diabetes insipidus. Osseous infiltration was observed exclusively in suprasellar GCT (significantly more frequent in NGGCT; p =.004). Time between the first MRI and therapy start was significantly longer in the suprasellar cohort (p =.005), with an even greater delay in germinoma compared to NGGCT (p =.002). The longest interval to treatment had circumscribed suprasellar germinomas (median 312 days). Conclusion: A loss of the PPBS is a hint of tumor origin revealing small tumors in the neurohypophysis. Using this sign in children with diabetes insipidus avoids a delay in diagnosis. [ABSTRACT FROM AUTHOR]
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- 2024
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18. Antibody-drug conjugates as a novel therapeutic modality to treat recurrent refractory germ cell tumors.
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Udvorková, Natália, Fekiačová, Adriana, Majtánová, Kristína, Mego, Michal, and Kučerová, Lucia
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GERM cell tumors , *ANTIBODY-drug conjugates , *ANTINEOPLASTIC agents , *GERM cells , *DISEASE relapse , *IMMUNOGLOBULINS , *GONADS , *DEEP brain stimulation - Abstract
This review provides a rationale for using the Food and Drug Administration (FDA)-approved antibody-drug conjugates (ADCs) for implementing as therapy in recurrent refractory germ cell tumors similar to their position in the treatment of other types of chemoresistant solid tumors. Germ cell tumors (GCTs) originate from germ cells; they most frequently develop in ovaries or in the testes, while being the most common type of malignancy in young men. GCTs are very sensitive to cisplatin-based chemotherapy, but therapeutic resistance occurs in a considerable number of cases, which is associated with disease recurrence and poor patient prognosis. ADCs are a novel type of targeted antitumor agents that combine tumor antigen-specific monoclonal antibodies with chemically linked chemotherapeutic drugs (payload) exerting a cytotoxic effect. Several FDA-approved ADCs use as targeting moieties the antigens that are also detected in the GCTs, offering a benefit of this type of targeted therapy even for patients with relapsed/refractory testicular GCTs (rrTGCT) unresponsive to standard chemotherapy. [ABSTRACT FROM AUTHOR]
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- 2024
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19. Impact of Surgical Timing (Primary, Delayed, or Second Look) on Surgical Morbidity and Outcomes in Malignant Germ Cell Tumor of the Ovary in Children.
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Qureshi, Sajid S., Voppuru, Saiesh Reddy, Smriti, Vasundhara, Baheti, Akshay, Shah, Sanket, Chinnaswamy, Girish, Prasad, Maya, Parambil, Badira C., Gollamudi, Venkata RM., Panjwani, Poonam, Ramadwar, Mukta, Amin, Nayana, and Kembhavi, Seema A.
- Abstract
Malignant ovarian germ cell tumors (MOGCT) are rare in children. Surgery with or without chemotherapy is the primary treatment approach. This study aimed to analyze the impact of primary and delayed surgery on surgical morbidity and outcomes. Second-look surgery after inadequate surgical staging and the various components of surgical staging were also evaluated. Children below 15 years with MOGCT treated between 2006 and 2022 were analyzed. A comparison of patients undergoing primary, delayed, and second-look surgery was performed. 118 patients with a median age of 12 (0.11–15) years were eligible. Forty patients underwent primary, 51 delayed, and 27 second-look surgeries. Overall complications, including tumor rupture, blood loss, and adjacent organ removal, were significantly higher in the primary compared to the delayed surgery group (p = 0.0001). Second-look surgery conceded more blood loss (p = 0.0001), extended duration (p = 0.03), and complications (p = 0.004) than delayed surgery. The compliance with surgical guidelines was 100% for most components, with a positive yield rate of 10–80%. At a median follow-up of 5.2 years, the 5-year event-free survival (EFS) and overall survival (OS) for the entire cohort are 86% and 89%, respectively. The OS and EFS did not differ by the timing of surgery, although the second-look surgery demonstrated relatively inferior outcomes consequential to initial suboptimal surgery. MOGCT shows favorable outcomes. Delayed surgery after chemotherapy in appropriately selected patients minimizes the morbidity of surgery with similar outcomes compared to primary surgery. An optimal initial surgery is essential since second-look surgery produces significant morbidity. Prognosis Study, Level II evidence • Surgery with or without postoperative chemotherapy is the primary treatment approach in malignant germ cell tumors of the ovary in children. • Delayed surgery after chemotherapy in appropriately selected patients significantly reduces the morbidity of the surgery. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Testicular choriocarcinoma with pelvic and pulmonary metastases: a case report.
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Xin Bai, Liu, Xiao H., Liang, Hai W., Li, Yi S., Shan, Biao F., and Tang, Jian M.
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GERM cell tumors ,ABDOMINAL pain ,CHORIOCARCINOMA ,TESTIS ,YOUNG men ,METASTASIS - Abstract
Testicular tumors represent a common form of solid tumor in young men, with choriocarcinoma of the testis being a rare, non-granulomatous germ cell tumor. It accounts for less than 0.3% of all testicular germ cell tumors. Pelvic and pulmonary metastases originating from testicular choriocarcinoma are exceptionally uncommon in men. This study describes a case of a 27-year-old male diagnosed with testicular choriocarcinoma, presenting initially with nausea, vomiting, and abdominal pain. Furthermore, this review encompasses cases of testiclar choriocarcinoma in individuals aged 30 years and below, both in China and internationally, over the past 20 years. [ABSTRACT FROM AUTHOR]
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- 2024
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21. Phenotype and gene signature of testicular tumors in 129.MOLF‐Chr19 mice resemble human teratomas.
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Gayer, Fabian A., Klaus, Lucas, Reichardt, Sybille D., Fichtner, Alexander, and Reichardt, Holger M.
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TERATOMA , *GERM cell tumors , *PHENOTYPES , *EPIBLAST , *TUMORS , *GENE expression - Abstract
Background Objective Material and methods Results Discussion and conclusion Testicular germ cell tumor (TGCT) is the most common type of tumor in young men. Type II germ cell tumors including postpubertal‐type teratomas are derived from the
germ cell neoplasia in situ (GCNIS), whereas prepubertal‐type teratomas arise independently of the GCNIS. The consomic mouse strain 129.MOLF‐Chr19 (M19) is a suitable murine model of such tumors, but its characterization remains incomplete.Here, we interrogated the suitability of testicular tumors in M19 mice as a model of human TGCT by analyzing their histological features and gene expression signature.Testes collected from M19 mice of different ages were categorized by macroscopic appearance based on size and the degree of suspected tumorigenesis. Histological sections from selected tumors were stained with Hematoxylin and Eosin, and expression of genes associated with tumorigenesis was determined in frozen tissue samples from a large range of tumors of different subclasses using RT‐qPCR and Fluidigm Dynamic Arrays.Macroscopically, testicular specimens appeared very heterogeneous concerning size and signs indicating the presence of a tumor. Histological analysis confirmed the development of teratomas with areas of cells corresponding to all three germ cell layers. Gene expression analyses indicated upregulation of markers related to proliferation, vascular invasive potential and pluripotency, and revealed a strong correlation of gene expression with tumor size and a significant intercorrelation of individual genes.TGCT in M19 mice is reminiscent of human testicular teratomas presenting with areas of cells derived from all germ layers and showing a typical gene signature. We thus confirm that these mice can serve as a suitable murine model of pure teratomas for preclinical research. [ABSTRACT FROM AUTHOR]- Published
- 2024
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22. Unusual Presentation of Thoracic Chordoma with Spinal Epidural Hematoma: A Rare Case Report and PRISMA-Driven Systematic Review.
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Abualkhair, Khaled Alsayed, Sharif, Asmaa F., Eid, Hadeel, ElToukhy, Ahmed G, Ezzat, Mohammad, and Taha, Mahmoud M
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LEG , *RADIOTHERAPY , *HEMIPLEGIA , *COMPUTED tomography , *SPINAL epidural hematoma , *LAMINECTOMY , *MAGNETIC resonance imaging , *VERTEBRAE , *TREATMENT effectiveness , *SYSTEMATIC reviews , *MUSCLE weakness , *SPASTICITY , *MYELOGRAPHY , *GERM cell tumors , *THORACIC vertebrae , *PATIENT aftercare , *SYMPTOMS ,CHEST tumors - Abstract
A chordoma is a slow growing, locally invasive, low-grade tumor belonging to the sarcoma family. It mainly affects the sacrum and skull base. We present a case of thoracic chordoma initially presented with epidural hematoma (EDH), which is a rare clinical entity. We reported this case, and also performed a PRISMA-driven systematic review to summary the similar cases in the literature. This review includes the clinical characteristics and outcome of thoracic chordoma. Our case involves a 60-year-old male who, despite no history of trauma, presented with acute paraparesis. An epidural hematoma was identified at T6 level, leading to a surgical intervention involving T4-6 laminectomy and fixation. Six months subsequent to surgery, the patient experienced progressive lower limb weakness and spasticity. Computed tomography (CT) exhibited erosion of T6 and an associated aggressive mass. Magnetic resonance imaging (MRI) revealed a large heterogenous soft tissue mass arising from the vertebral body and right pedicle of D6, protruding in the epidural space and compressing the spinal cord focally at this level. The mass measured approximately 5 × 4 × 3.5 cm. Magnetic resonance myelography indicated a filling defect at T5–6 level, confirming the intraspinal location of the soft tissue lesion. Complete excision of the mass confirmed the diagnosis of thoracic chordoma. Postoperative follow-up demonstrated notable improvement in the lower limb spasticity and paraparesis, and the patient started adjuvant radiotherapy. This case underscores the importance of maintaining a high index of suspicion when evaluating presentations resembling EDH. [ABSTRACT FROM AUTHOR]
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- 2024
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23. A case report of recurrent testicular germ cell tumor in a patient with a history of primary pulmonary germ cell tumor and a review of the literature.
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Jian Tan, Jinfeng Wu, Runqiang Yuan, Wei Li, Linfeng Li, Hongxing Huang, and Yangbai Lu
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LITERATURE reviews ,GERM cell tumors ,SEMINOMA ,CANCER cells - Abstract
Background: Compared to testicular germ cell tumors, the incidence of extragonadal germ cell tumors (EGCTs) is relatively low. While the lungs are a common site for metastasis of malignant germ cell tumors, primary pulmonary germ cell tumors are extremely rare. Objective: To enhance the understanding of the diagnosis and treatment of germ cell tumors, particularly extragonadal germ cell tumors (EGCTs). Methods: A Case Report of Recurrent Testicular Germ Cell Tumor in a Patient with Primary Pulmonary Germ Cell Tumor and a Review of the Literature. Clinical data: The patient was initially diagnosed with primary pulmonary germ cell tumor and received standard treatment. Five years later, the patient developed a recurrent testicular germ cell tumor. The pathological results from the two surgeries were different, indicating embryonal carcinoma in the first instance and seminoma in the second. Conclusion: For cases with a high suspicion of extragonadal germ cell tumors (EGCTs), early pathological biopsy is essential to confirm the histological subtype and to guide the selection of the most appropriate and sensitive treatment regimen. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Endobronchial Infection and Bacterial Lymphadenitis by Gemella morbillorum Leading to Airway Perforation and a Bronchopleural Fistula.
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DePrez, Kaitlin N., Ferguson, John, and Turna, Akif
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GRANULOMATOSIS with polyangiitis , *GERM cell tumors , *SHOULDER pain , *COMPUTED tomography , *CANCER diagnosis , *BRONCHIAL fistula , *LYMPHADENITIS - Abstract
Introduction: Necrotizing bronchial infection with severe infectious lymphadenitis is infrequently encountered and most commonly ascribed to Aspergillus, Histoplasma, and Mycobacterium species. We present a unique cause of severe airway destruction with lymphadenitis and bronchopleural fistula formation by the bacterium Gemella morbillorum. Case: A 24‐year‐old man presented with acute symptoms of vomiting, fever, and shoulder pain. A CT of the chest demonstrated a large subcarinal mass encasing the central bronchi. The workup for malignant, fungal, and granulomatous etiologies was unrevealing, while blood cultures identified G. morbillorum. Fiberoptic bronchoscopy revealed a perforation of the right middle lobar bronchus and the formation of a bronchopleural fistula, resulting in a large hydropneumothorax with empyema. Despite antibiotic therapy, surgical intervention to repair the fistula, and ventilatory support, the progression of the bronchopleural fistula led to fatal respiratory failure. Conclusion: In cases of severe mediastinal adenopathy in a young patient, bacterial lymphadenitis should be considered in the differential diagnosis with lymphoma, germ cell tumor, granulomatosis with polyangiitis, sarcoidosis, histoplasmosis, and inflammatory myofibroblastic tumor. [ABSTRACT FROM AUTHOR]
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- 2024
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25. Primary central nervous system germ cell tumors in Central America and the Caribbean Region: an AHOPCA 20-year experience.
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Verónica Girón, Ana, Blanco-Lopez, Jessica, Calderon, Patricia, Jiron, Reyna, Pineda, Estuardo, Montero, Margarita, Lizardo, Yamel, Bartels, Ute, and Osorio, Diana S.
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GERM cell tumors ,CENTRAL nervous system ,DIABETES insipidus ,MISSING data (Statistics) ,PRECOCIOUS puberty ,HIGH-income countries - Abstract
Background: Primary central nervous system germ cell tumors (GCT) are rare neoplasms in pediatrics. Treatment depends on the histological subtype and extent of the disease. Overall survival (OS) is above 90% for germinomas and 70%-80% for nongerminomatous GCT (NGGCT) in high-income countries (HIC) while data are usually lacking for patients in Low-Middle Income country (LMIC). Objective: This study aims to describe the experience of treating patients with CNS GCT in four of eight countries, members of the Asociacio'n de Hemato-Oncologı'a Pedia'trica de Centro Ame'rica (AHOPCA), and determine their 5-year OS. Design/methods: We conducted a retrospective chart review of patients treated for CNS GCT. Epidemiological and clinical characteristics, histology, treatment modalities, and outcomes were analyzed. Results: From 2001 to 2021, 48 patients were included: 22 from Guatemala, 18 from Nicaragua, three from the Dominican Republic, and five from El Salvador. Thirty-one (64.6%) were boys; the median age at diagnosis was 10.2 years (range: 1 to 17 years). Presenting symptoms were headaches (n = 24, 50%), visual disturbances (n = 17, 35.4%), vomiting (n = 12, 25%), nausea (n = 8, 16.7%), and diabetes insipidus (n = 7, 14.6%). Two patients with NGGCT presented with precocious puberty. Biopsy or tumor resection was performed in 38 cases (79.2%): 23 (88.4%) germinomas, 11 (78.6%) NGGCT, and four (50%) CNS GCT. Eight patientswere diagnosed and treated based on CSF tumor marker elevation; four germinomas (BHCG 11.32-29.41 mUI/mL) and four NGGCT (BHCG 84.43-201.97 mUI/mL or positive AFP > 10 UI/mL). Tumor locations included suprasellar (n = 17, 35.4%), pineal (n = 13, 27.1%), thalamus/basal ganglia (n = 5, 10.4%), other (n = 12, 25%), and one bifocal. Four (8.3%) had metastatic disease, and six had positive CSF; staging data were incomplete in 25 patients (52%). Patients were treated with varied chemotherapy and radiotherapy modalities. Nine patients had incomplete data regarding treatment. Five-yearOSwas 65% (68% for germinoma, 50.6% for NGGCT, and 85.7% for unclassified GCT). Conclusions: Germinoma was the most common histology, and there was a male predominance. More than half of patients had incomplete staging data and treatment was variable across the region. OS is lower compared to HIC. Standardized treatment protocols will aid in adequate staging and treatment planning, prevent complications, and improve survival. [ABSTRACT FROM AUTHOR]
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- 2024
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26. Systematic Review and Meta-Analysis of Particle Beam Therapy versus Photon Radiotherapy for Skull Base Chordoma: TRP-Chordoma 2024.
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Saito, Takashi, Mizumoto, Masashi, Oshiro, Yoshiko, Shimizu, Shosei, Li, Yinuo, Nakamura, Masatoshi, Hosaka, Sho, Nakai, Kei, Iizumi, Takashi, Inaba, Masako, Fukushima, Hiroko, Suzuki, Ryoko, Maruo, Kazushi, and Sakurai, Hideyuki
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THERAPEUTIC use of nuclear particles , *PROTON therapy , *RESEARCH funding , *SKULL base , *TREATMENT effectiveness , *META-analysis , *DESCRIPTIVE statistics , *SYSTEMATIC reviews , *SKULL tumors , *PROGRESSION-free survival , *GERM cell tumors , *OVERALL survival , *EVALUATION - Abstract
Simple Summary: Chordoma is a rare cancer that often occurs at the base of the skull. Treating skull base chordoma is challenging because the tumor is difficult to completely remove with surgery and has low radiosensitivity. This study compared two types of radiation modality: particle beam therapy (PT) and photon radiotherapy (RT). We found that PT provides better progression-free survival compared to photon RT. However, PT also has a higher risk of causing brain necrosis. Our findings suggest that PT is more effective for controlling skull base chordoma, but careful planning is needed to minimize side effects. [Objective] The aim of this study was to compare the efficacy of particle beam therapy (PT) with photon radiotherapy (RT) for treatment of skull base chordoma. [Methods] A systematic review was conducted for skull base chordoma treated with PT or photon RT reported from 1990 to 2022. Data were extracted for overall survival (OS) and progression-free survival (PFS), late adverse events, age, gender, gross total resection (GTR) rates, tumor volume, total irradiation dose, and treatment modality. Random-effects meta-regression analysis with the treatment modality as an explanatory variable was performed for each outcome to compare the modalities. [Results] A meta-analysis of 30 selected articles found 3- and 5-year OS rates for PT vs. photon RT or combined photon RT/proton beam therapy (PBT) of 90.8% (95% CI: 87.4–93.3%) vs. 89.5% (95% CI: 83.0–93.6%), p = 0.6543; 80.0% (95% CI: 75.7–83.6%) vs. 89.5% (95% CI: 83.0–93.6%), p = 0.6787. The 5-year PFS rates for PT vs. photon RT or photon RT/PBT were 67.8% (95% CI: 56.5–76.7%) vs. 40.2% (95% CI: 31.6–48.7%), p = 0.0004. A random-effects model revealed that the treatment modality (PT vs. photon RT or photon RT/PBT) was not a significant factor for 3-year OS (p = 0.42) and 5-year OS (p = 0.11), but was a significant factor for 5-year PFS (p < 0.0001). The rates of brain necrosis were 8–50% after PT and 0–4% after photon RT or photon RT/PBT. [Conclusion] This study shows that PT results in higher PFS compared to photon RT for skull base chordoma, but that there is a tendency for a higher incidence of brain necrosis with PT. Publication and analysis of further studies is needed to validate these findings. [ABSTRACT FROM AUTHOR]
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- 2024
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27. Ultrasonographic and clinicopathological features of pelvic yolk sac tumors in women: a single-center retrospective analysis.
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Mei Chen, Shengmin Zhang, Xiupeng Jia, Youfeng Xu, Yaping Wei, and Shusheng Liao
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YOLK sac ,SACROCOCCYGEAL region ,CONTRAST-enhanced ultrasound ,GERM cell tumors ,CARCINOEMBRYONIC antigen ,ULTRASONIC imaging ,ADJUVANT chemotherapy - Abstract
Objectives: Yolk sac tumors (YSTs) are rare and highly malignant ovarian malignancies that have a very poor prognosis. The aim of this study is to delineate the ultrasound and clinicopathological features of female pelvic YSTs to better understand the disease. Methods: This study was a retrospective analysis of the clinicopathological and ultrasound imaging data from 16 YST patients who received treatment at our hospital between January 2012 and August 2023. Then, the ultrasound imaging characteristics were compared with pathological findings. Results: Among the 16 patients, various degrees of serum AFP increase were observed, and CA125 levels increased in 58.33% (7 out of 12) of patients. Thirteen patients (81.25%) had tumors located in ovary, two patients (12.5%) had tumors located in the sacrococcygeal region, and one patient (6.25%) had tumors located in the mesentery. Pathologically, nine patients presented with simple yolk sac tumors and seven with mixed germ cell tumors. According to the ultrasound manifestations, YST lesions can be classified into three types. (1) the cystic type, was diagnosed in two patients who presented with a large cystic mass with regular morphology and clear boundary and dense liquid within the cyst; and (2) the cystic-solid mixed type, was diagnosed in 4 patients. On 2D ultrasound, the lesions showed a cystic-solid mixed echo, and color Doppler showed a rich blood flow signal in the solid region and cystic separation. made up of four cases. (3) In ten patients with the solid type, 2D ultrasound showed solid uniform echoes with clear boundaries. The “fissure sign” was observed in the lesion. Color Doppler displayed rich blood flow in the solid part, and PW showed low to moderate resistance index of artery (RI:0.21–0.63). On contrast-enhanced ultrasound (CEUS), rapid and high enhancement in the solid part and cystic separation was observed in 2 patients. Conclusions: Combining ultrasound features with clinical information and tumor markers provides reliable clues for the diagnosis of YST. The application of twodimensional ultrasound and CEUS combined with patient tumor marker levels can provide a robust reference for determining the necessity of fertilitypreserving surgery and postoperative chemotherapy, which can improve clinical decision-making and patient consultation. [ABSTRACT FROM AUTHOR]
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- 2024
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28. Utility of 18F-FDG PET/CT in Detecting Spinal Drop Metastases from Pineal Gland Tumors.
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Dhayalan, Kabilash, Goyal, Harish, Palanivelu, Pradap, and Halanaik, Dhanapathi
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PINEAL gland , *GERM cell tumors , *YOUNG adults , *POSITRON emission tomography , *METASTASIS , *BRAIN tumors - Abstract
Pineal gland tumors are significant despite being rare (<1%) among all brain tumors. Germ cell tumors are the most common among the pineal gland tumors. Often affecting young adults, pineal gland germ cell tumors are hard to diagnose due to different symptoms and potential spread. But they rarely show leptomeningeal spread and extracranial metastases. Other differentials include primary tumors of the pineal region, Pineal gliomas, and metastases. The leptomeningeal spread of these tumors has not been studied so far. Conventional radiological imaging modalities are routinely used to diagnose and evaluate these tumors. We report a case here showing a pineal gland tumor with leptomeningeal spread detected by 18F-FDG PET/CT. Our case shows how pineal gland tumors can behave unusually and how 18F-FDG PET/CT can be crucial for accurately assessing the extent of the disease in the body to provide effective treatment. This case report illustrates the rare type of spread of pineal gland tumor and how 18F-FDG PET/CT helps detect this rare type of metastasis, thereby helping in prognostication and deciding further treatment of the patient. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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29. Increased serum creatinine associated with testicular microlithiasis in adult Japanese men: A retrospective cohort study.
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Hagiuda, Jun, Takamatsu, Kiyoshi, and Nakagawa, Ken
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JAPANESE people , *GERM cell tumors , *CREATININE , *OLDER patients , *COHORT analysis , *ORCHIOPEXY ,TESTIS surgery - Abstract
Background: Testicular microlithiasis (TM) is thought to be associated with testicular tumors and impaired spermatogenesis; however, its etiology remains unclear. Objectives: To identify factors, other than testicular function, that are associated with testicular microlithiasis. Materials and methods: We enrolled males who underwent ultrasound examination of the scrotum at Tokyo Dental College Ichikawa General Hospital. The patients were categorized into two groups: those with or those without testicular microlithiasis. Background and blood test data were compared between the groups. Results: Testicular microlithiasis was observed in 72 of the 828 (8.7%) patients enrolled. Ages ranged from 15 to 87 years (mean age, 40.0 years). A history of germ cell tumor was significantly more prevalent in patients with testicular microlithiasis than in those without (1.3 vs. 16.7%; p < 0.001). Blood test data showed that, patients with testicular microlithiasis had significantly higher serum creatinine levels (0.91 vs. 1.04 mg/dL; p = 0.046) and lower calcium levels (9.4 vs. 9.3 mg/dL; p = 0.031) than those without. Serum creatinine levels (> 1.00 mg/dL) and germ cell tumors were significantly associated with testicular microlithiasis in both univariate and multivariate analyses. The prevalence of testicular microlithiasis increased in patients older than 50 years. Age (> 50 years) was associated with testicular microlithiasis in univariate analysis. The mean body weight tended to be heavier (70.7 vs. 72.2 kg; p = 0.051) and epididymitis was observed more frequently (3.2 vs. 8.3%; p = 0.056) in patients with testicular microlithiasis than in those without. Discussion and conclusion: A history of testicular tumors and elevated serum creatinine levels were associated with testicular microlithiasis. Testicular microlithiasis was observed across all age groups, with a tendency to increase in patients older than 50 years. Patients with testicular microlithiasis were slightly heavier and had a higher prevalence of epididymitis than those without. Our findings suggest that, in addition to testicular dysgenesis, other factors are involved in the development of testicular microlithiasis. [ABSTRACT FROM AUTHOR]
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- 2024
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30. Clinical characteristics and survival outcomes of elderly patients with de novo metastatic germ cell tumors.
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Kirisawa, Takahiro, Okuno, Tomoya, Hagimoto, Hiroki, Matsuda, Ayumu, Maejima, Aiko, Shinoda, Yasuo, Nakamura, Eijiro, Komiyama, Motokiyo, Fujimoto, Hiroyuki, and Matsui, Yoshiyuki
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OLDER patients , *SURVIVAL rate , *GERM cell tumors , *FEBRILE neutropenia , *PATIENT compliance , *INDUCTION chemotherapy , *OVERALL survival - Abstract
Objectives: To determine the outcomes for elderly patients with de novo metastatic germ cell tumors and the influence of patient age on adherence to standard chemotherapy. Methods: A total of 150 patients who were initially diagnosed with metastatic germ cell tumors and treated at our institution between 2007 and 2021 were included. Patients were classified according to three age groups: aged <40, 40–49, and ≥50 years. Clinicopathological features, adherence to standard first‐line chemotherapy, overall survival, and disease‐free survival were compared between these groups. We also analyzed the outcomes of patients who received low‐intensity induction chemotherapy due to adverse events and/or comorbidities. Results: There was no significant difference in any of the survival outcomes and in the rate of adherence to standard first‐line chemotherapy between the three age groups, although elderly patients with intermediate/poor prognosis group tended to receive less‐intense chemotherapies. The rate of febrile neutropenia as a chemotherapy‐related adverse event was significantly higher in patients aged ≥50 years. No statistical significance in survival outcomes was detected between the group of patients who received relatively low‐intensity induction chemotherapy and those who received adequately intensive planned chemotherapy. Conclusions: The adherence rate of standard fist‐line chemotherapy of elderly patients is almost comparable to that of younger patients, although some adverse events should be carefully managed. Even elderly patients with metastatic germ cell tumors can aim for equivalently good survival outcome like younger populations, with effort to adhere to standard chemotherapy. [ABSTRACT FROM AUTHOR]
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- 2024
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31. A Case of Non-Seminomatous Germ Cell Tumor Complicated by Tumor Thrombus in an Active Duty Soldier.
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Grossmann, Matthew, Kou, Chung-Ting J, Vergonet, Breanne, Soderstrom, Matthew, Rendo, Matthew J, and Lee, Lauren E
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THROMBOSIS , *VENA cava inferior , *RENAL veins , *ILIAC vein , *ENDOVASCULAR surgery , *GERM cell tumors , *GONADAL dysgenesis - Abstract
Testicular malignancies commonly affect adolescent and young adult males. Although they tend to respond well to cisplatin-based chemotherapy with excellent overall survival, complications such as inferior vena cava tumor thrombus are rare and can be associated with high morbidity and mortality. We present a case of tumor thrombus in a 21-year-old active duty male with a newly diagnosed stage IIIB non-seminomatous germ cell tumor presenting with extensive left lower extremity swelling. Ultrasound with Doppler was notable for significant thrombus of the left common femoral, femoral, and popliteal vein. Computed tomography imaging revealed extensive thrombus of the inferior vena cava, left iliac veins, and left gonadal vein with sparing of the left renal vein. Endovascular thrombectomy was performed with pathologic analysis confirming the presence of malignant cells consistent with tumor thrombus. The patient continued subsequent non-seminomatous germ cell tumor treatment without complications. [ABSTRACT FROM AUTHOR]
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- 2024
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32. Quality of care measurement for patients with ovarian cancer in Japan.
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Kakuwa, Tamaki, Watanabe, Tomone, Niino, Mariko, Kawata, Akira, Satoh, Toyomi, Matsumura, Noriomi, Yokoyama, Yoshihito, Kawana, Kei, Hirashima, Yasuyuki, Kyo, Satoru, Yasuda, Masanori, Harano, Kenichi, Machida, Hiroko, Tokunaga, Hideki, Kaneuchi, Masanori, Tabata, Tsutomu, Kobayashi, Yoichi, Nagase, Satoru, Katabuchi, Hidetaka, and Mikami, Mikio
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CLINICAL medicine , *MEDICAL protocols , *MEDICAL quality control , *CISPLATIN , *RESEARCH funding , *OVARIAN tumors , *KEY performance indicators (Management) , *CANCER patient medical care , *HOSPITALS , *DESCRIPTIVE statistics , *BLEOMYCIN , *ETOPOSIDE , *HORMONE therapy , *CANCER patient psychology , *HEALTH promotion , *DELPHI method , *TUMOR classification , *QUALITY assurance , *DISEASE progression , *PATIENTS' attitudes , *GERM cell tumors - Abstract
Aim: Quality of care is important to reduce disease progression, and improve both survival and quality of life. The Japan Society of Gynecologic Oncology has published treatment guidelines to promote standardized high‐quality care for ovarian cancer in Japan. We developed quality indicators based on the guideline recommendations and used them on large datasets of health service use to examine the quality of ovarian cancer care. Methods: A panel of experts developed the indicators using a modified Delphi method. Adherence to each indicator was evaluated using data from a hospital‐based cancer registry of patients diagnosed in 2018. All patients receiving first‐line treatment at participating facilities were included. The adherence rates were returned to participating hospitals, and reasons for nonadherence were collected. A total of 580 hospitals participated, and the study examined the care received by 6611 patients with ovarian cancer and 1879 with borderline tumors using 11 measurable quality indicators. Results: The adherence rate ranged from 22.6% for "Estrogen replacement within 6 months of operation" to 93.5% for "Bleomycin, etoposide, and cisplatin for germ cell tumor more than Stage II." Of 580 hospitals, 184 submitted the reasons for nonadherence. Conclusions: The quality of ovarian cancer care should be continuously assessed to encourage the use of best practices. These indicators may be a useful tool for this purpose. [ABSTRACT FROM AUTHOR]
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- 2024
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33. Treatment Outcome of Response-Based Radiation Therapy in Children and Adolescents With Central Nervous System Nongerminomatous Germ Cell Tumors: Results of a Prospective Study.
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Zeng, Chenggong, Yang, Qunying, Li, Zhuoran, Wei, Zhiqing, Chen, Tingting, Deng, Meiling, Wang, Jian, Wang, Juan, Sun, Feifei, Huang, Junting, Lu, Suying, Zhu, Jia, Sun, Xiaofei, and Zhen, Zijun
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CENTRAL nervous system , *RADIOTHERAPY , *TREATMENT effectiveness , *INDUCTION chemotherapy , *REOPERATION , *GERM cell tumors , *RADIATION injuries - Abstract
The optimal dose and range of radiation therapy for central nervous system nongerminomatous germ cell tumors (NGGCTs) have not been uniformly established. Therefore, this study aimed to investigate the effect of individualized radiation therapy, based on the response to induction chemotherapy combined with surgery, on the prognosis of patients with NGGCTs. Based on the imaging examination and tumor markers after induction chemotherapy and pathologic results of second-look surgery, patients with NGGCT received different radiation therapy strategies, including 30.6 Gy whole ventricular irradiation + tumor-bed boost to 54 Gy, 30.6 Gy craniospinal irradiation + tumor-bed boost to 54 Gy, 36 Gy craniospinal irradiation + tumor-bed boost to 54 Gy, and 36 Gy craniospinal irradiation + 54 Gy tumor-bed boost with 45 Gy to metastatic spinal lesions. A total of 51 patients were enrolled between January 2015 and March 2021, with a median age of 10.3 years. The 3-year event-free survival and overall survival (OS) of the entire cohort were 70.2% ± 6.9% and 77.5% ± 6.0%, respectively. The 3-year OS of patients achieving partial response after induction chemotherapy was higher than that of patients with stable disease (P =.03) or progressive disease (P =.002). The 3-year event-free survival and OS of the 18 patients receiving 30.6 Gy whole ventricular irradiation and 54 Gy tumor-bed boost were 88.9% ± 7.4% and 94.4% ± 5.4%, respectively. The results suggest that an individualized radiation therapy strategy based on response to induction chemotherapy and surgery is a feasible and promising means of achieving reduction in dose and extent of radiation in patients while still providing good response. [ABSTRACT FROM AUTHOR]
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- 2024
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34. Surgical and Oncologic Outcome following Sacrectomy for Primary Malignant Bone Tumors and Locally Recurrent Rectal Cancer.
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Weidlich, Anne, Schaser, Klaus-Dieter, Weitz, Jürgen, Kirchberg, Johanna, Fritzmann, Johannes, Reeps, Christian, Schwabe, Philipp, Melcher, Ingo, Disch, Alexander, Dragu, Adrian, Winkler, Doreen, Mehnert, Elisabeth, and Fritzsche, Hagen
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OSTEOSARCOMA , *DISCECTOMY , *WOUND healing , *CHONDROSARCOMA , *CANCER relapse , *ACADEMIC medical centers , *COMPLICATIONS of prosthesis , *ABDOMINAL surgery , *COMPUTED tomography , *IMMUNOTHERAPY , *FISHER exact test , *TREATMENT effectiveness , *CANCER patients , *RETROSPECTIVE studies , *MAGNETIC resonance imaging , *POSITRON emission tomography , *DESCRIPTIVE statistics , *CHI-squared test , *COLORECTAL cancer , *HEMATOMA , *SURGICAL complications , *OSTEOTOMY , *KAPLAN-Meier estimator , *LOG-rank test , *LIPOSARCOMA , *CANCER chemotherapy , *COMPUTER-assisted surgery , *RESEARCH , *URBAN hospitals , *COMBINED modality therapy , *SACRUM , *DATA analysis software , *CONFIDENCE intervals , *RHABDOMYOSARCOMA , *PROGRESSION-free survival , *SURGICAL site infections , *GERM cell tumors , *OVERALL survival , *PROPORTIONAL hazards models , *REGRESSION analysis ,RECTUM tumors - Abstract
Simple Summary: Sacrectomy represents a radical indication for bone sarcomas (e.g., osteosarcoma or chondrosarcoma) and chordomas, as well as selected carcinomas with invasion of the sacrum. Extralesional en bloc excision is surgically demanding and associated with resection-induced neurologic deficits and risks. Due to the low incidence of bone sarcomas, the rare localization in the sacrum and the complexity of the surgical procedure, studies reporting on the oncological outcome and corresponding complications in larger patient numbers are rare. The aim was to describe the oncosurgical management and the complication profile and to analyze our own treatment results after partial/total sacrectomy, with attention paid to a possible benefit by using intraoperative 3D navigation. There was a significant difference in progression-free and metastasis-free survival between sarcoma, chordoma and carcinoma patients. Complications were common, but no independently influencing causative factors could be identified. Although there was a subjective impression of improved intraoperative 3D orientation and easier identification of resection planes, the use of navigation did not significantly influence resection status or oncological patient outcome. Introduction: Bone sarcoma or direct pelvic carcinoma invasion of the sacrum represent indications for partial or total sacrectomy. The aim was to describe the oncosurgical management and complication profile and to analyze our own outcome results following sacrectomy. Methods: In a retrospective analysis, 27 patients (n = 8/10/9 sarcoma/chordoma/locally recurrent rectal cancer (LRRC)) were included. There was total sacrectomy in 9 (incl. combined L5 en bloc spondylectomy in 2), partial in 10 and hemisacrectomy in 8 patients. In 12 patients, resection was navigation-assisted. For reconstruction, an omentoplasty, VRAM-flap or spinopelvic fixation was performed in 20, 10 and 13 patients, respectively. Results: With a median follow-up (FU) of 15 months, the FU rate was 93%. R0-resection was seen in 81.5% (no significant difference using navigation), and 81.5% of patients suffered from one or more minor-to-moderate complications (especially wound-healing disorders/infection). The median overall survival was 70 months. Local recurrence occurred in 20%, while 44% developed metastases and five patients died of disease. Conclusions: Resection of sacral tumors is challenging and associated with a high complication profile. Interdisciplinary cooperation with visceral/vascular and plastic surgery is essential. In chordoma patients, systemic tumor control is favorable compared to LRRC and sarcomas. Navigation offers gain in intraoperative orientation, even if there currently seems to be no oncological benefit. Complete surgical resection offers long-term survival to patients undergoing sacrectomy for a variety of complex diseases. [ABSTRACT FROM AUTHOR]
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- 2024
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35. Testicular Regression Syndrome: Histopathological Evaluation of 20 cases from Rural India with Review of Literature.
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Pol, Jaydeep N., Deshmukh, Sayali, Bhosale, Anand, Hombalkar, Priya, Dugad, Vivek, Chaudhari, Pallavi S., Bindu, Rajan S., Awake, Praneet, and Patrike, Sneha
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SERTOLI cells , *GERM cells , *GERM cell tumors , *SEMINIFEROUS tubules , *CRYPTORCHISM , *CHILD patients - Abstract
Context: Testicular regression syndrome (TRS), clinically termed "vanishing testes," is a condition with atrophy of testes in late fetal or early neonatal life. The spermatic cord ends blindly or into a small fibrovascular nubbin. Histopathology reveals a fibrovascular nodule with associated hemosiderin-laden macrophages and dystrophic calcification. Few cases show the presence of seminiferous tubules and germ cells. The presence of germ cells is associated with the risk of developing a testicular germ cell tumor. Aims: To study the histopathological features of testicular nubbins and to determine the presence of germ cells and associated neoplasm. Settings and Design: It is a retro-prospective observational study carried out on patients referred to a pediatric surgical pathology center in Miraj, who were clinically diagnosed with undescended testis, over a period of 1 year. Data were collected after the study was approved by the IEC-MGCH on December 19, 2022. Materials and Methods: Twenty patients diagnosed with cryptorchidism, undescended testis, or atrophic testis were included. Findings of hematoxylin and eosin-stained slides of each case were noted, and Prussian Blue (special staining) was performed in four cases. Statistical analysis used: As this is a descriptive observational study, simple arithmetic calculations were performed. No unique statistical analysis was performed. Results: Among twenty cases of vanishing testes syndrome, 20 cases showed fibrovascular tissue only, and 1 case showed the presence of seminiferous tubules with Sertoli cells. Conclusions: Vanishing testes syndrome is a rare condition that is difficult to diagnose on clinical examination, and a definitive diagnosis may be missed if the pathologist is unaware of the condition. Also, there is a risk of germ cell tumor if there are residual germ cells in the testicular nubbin. [ABSTRACT FROM AUTHOR]
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- 2024
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36. Clinical and serological insights into paraneoplastic brachial amyotrophic diplegia.
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Kherbek, Haidara, Itoh, Christopher Y., Daley, Catherine, Eggers, Scott D., Hinson, Shannon, Sarker, Pallab, Staff, Nathan P., Pittock, Sean J., and Dubey, Divyanshu
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PARANEOPLASTIC syndromes , *AMYOTROPHIC lateral sclerosis , *GERM cell tumors , *SEMINOMA , *CEREBELLAR ataxia , *HEARING disorders , *CEREBROSPINAL fluid - Abstract
Background: Brachial amyotrophic diplegia (BAD) is typically linked to a neurodegenerative etiology such as amyotrophic lateral sclerosis (ALS). Clinical and serological characterizations of paraneoplastic neurologic syndromes resembling BAD are limited. Methods: A retrospective chart review of patients with BAD-like presentations was conducted. Clinical/paraclinical features of paraneoplastic BAD and neurodegenerative BAD cases were compared. Results: Between 2017 and 2023, 13 cases of BAD were identified, of these 10 were neurodegenerative BAD (ALS variant), and 3 cases associated with paraneoplastic autoimmunity. An additional paraneoplastic BAD case diagnosed in 2005 was included. LUZP4-IgG was detected in all four paraneoplastic cases, with coexisting KLHL11-IgG in three cases and ANNA1 (anti-Hu)-IgG in one case. Out of the four paraneoplastic cases, two patients had seminoma, while the remaining two had limited cancer investigation. Three patients exhibited bi-brachial weakness as the initial symptom before the onset of brainstem symptoms or seizures. Compared to BAD patients with a neurodegenerative etiology, a higher proportion of paraneoplastic cases had ataxia (75% vs 0%, p = 0.011). Other clinical features only detected in the paraneoplastic BAD group were vertigo (n = 2), hearing loss (n = 2) and ophthalmoplegia (n = 2). Electrodiagnostic studies in these patients revealed cervical myotome involvement, supportive of motor neuronopathy. All paraneoplastic cases but none of the neurodegenerative BAD cases exhibited inflammatory cerebrospinal fluid (CSF) findings (lymphocytic pleocytosis and/or supernumerary oligoclonal bands; p = 0.067). Despite the administration of immunotherapy and/or cancer treatment, none of the paraneoplastic patients reported clinical improvement. Discussion: BAD or bi-brachial neurogenic weakness is a rare phenotypic presentation associated with paraneoplastic autoimmunity. Co-existing features of brainstem dysfunction or cerebellar ataxia should prompt further paraneoplastic evaluation. Common serological and cancer associations among these cases include LUZP4-IgG and KLHL11-IgG, along with testicular germ cell tumors, respectively. [ABSTRACT FROM AUTHOR]
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- 2024
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37. Micro-RNA-371a-3p in Germ Cell Testicular Tumors on Diagnosis: A Prospective Case-Control Study in Turkish Population.
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Kılınç, Muzaffer Tansel, Göger, Yunus Emre, Özkent, Mehmet Serkan, Kılıç, Özcan, Altındaş, Betül Okur, Yıldırım, Mahmut Selman, and Karalezli, Giray
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TURKS , *GERM cell tumors , *TUMOR diagnosis , *RECEIVER operating characteristic curves , *CASE-control method , *LONGITUDINAL method - Abstract
Purpose: We aimed to evaluate the diagnostic sensitivity and specificity of the miRNA-371a-3p for the primary diagnosis of germ cell tumors (GCT) and to investigate its relationship with pathological factors and clinical stage in the Turkish population. Materials and Methods: In this prospective study, a total of 60 patients with GCTs, and 40 healthy male controls were examined for serum levels of miRNA-371a-3p before orchiectomy and again two weeks after surgery. The miRNA-371a-3p, alpha-fetoprotein (AFP), and beta-human chorionic gonadotropin (bHCG) levels in the preoperative and postoperative periods were compared at different clinical stages. Receiver operating characteristics curve analyses were performed to determine the sensitivity and specificity of miRNA-371a-3p. Clinical and pathological factors such as clinical stage (CS), tumor size, histology, rete testis invasion, and lymphovascular invasion, potentially impacting miRNA-371a-3p expression levels (relative quantity, RQ), were evaluated statistically. Results: The sensitivity of miR-371a-3p in GCT patients was 98.3%, and the specificity was 95% (AUC = 0.997 [95%Cl:0.99–1], p < .001). miR-371a-3p expression was not detected in two patients with teratoma. The median miR-371a-3p RQ was 489 times in GCT and 2.2 times in the Control group (p < .001). In the postoperative period, there was a significant decrease in AFP and bHCG levels in all CS-1 (p = .01) and 30% of the other CS (p = .3). Throughout this time there was a decrease of 19 times at the miR-371a-3p RQ in CS-1(p < .001) and 1.6 times in the other CS (p < .001). The miR-371a-3p RQs were correlated with tumor size and CS. Conclusion: The miR-371a-3p seems to have higher diagnostic accuracy than classical serum tumor markers in GCT. [ABSTRACT FROM AUTHOR]
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- 2024
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38. Primary lung chordoma: a case report.
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Shigeta, Naoko, Isaka, Tetsuya, Ono, Kyoko, Tanaka, Mio, Yokose, Tomoyuki, Adachi, Hiroyuki, Usuba, Wataru, and Ito, Hiroyuki
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LUNGS , *CHORDOMA , *GENE amplification , *FLUORESCENCE in situ hybridization , *GERM cell tumors , *LUNG tumors , *YOLK sac - Abstract
Background: Chordoma, a rare malignant tumor arising from notochordal tissue, usually occurs along the spinal axis. Only a few published reports of primary lung chordomas exist. Herein, we present a case of primary lung chordoma and discuss important considerations for diagnosing rare chordomas. Case presentation: We report a case of primary lung chordoma in a 39-year-old male with a history of testicular mixed germ-cell tumor of yolk sac and teratoma. Computed tomography revealed slow-growing solid lesions in the left lower lobe. We performed wedge resection for suspected germ-cell tumor lung metastasis. Histologically, large round or oval cells with eosinophilic cytoplasm were surrounded by large cells with granular, lightly eosinophilic cytoplasm. Tumor cells were physaliphorous. Immunohistochemistry was positive for brachyury, S-100 protein, epithelial membrane antigen, vimentin, and cytokeratin AE1/AE3, suggesting pulmonary chordoma. Re-examination of the testicular mixed germ-cell tumor revealed no notochordal elements. Although some areas were positive for brachyury staining, hematoxylin and eosin (HE) staining did not show morphological features typical of chordoma. Complementary fluorescence in situ hybridization (FISH) of the lung tumor confirmed the absence of isochromosome 12p and 12p amplification. Thus, a final diagnosis of primary lung chordoma was established. Conclusions: In patients with a history of testicular mixed germ cell tumors, comparison of histomorphology using HE and Brachyury staining of lung and testicular tumors, and analyzing isochromosome 12p and 12p amplification in lung tumors using FISH is pivotal for the diagnosis of rare lung chordomas. [ABSTRACT FROM AUTHOR]
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- 2024
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39. Occupational exposure to organic solvents and the risk of developing testicular germ cell tumors (TESTIS study): Effect of combined exposure assessment on risk estimation.
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Guth, M., Pilorget, C., Lefevre, M., Coste, A., Danjou, A., Dananché, B., Praud, D., Pérol, O., Daudin, M., Clarotti, M-A, Lattes, S., Bouillon, C., Paul, A., Schüz, J., Bujan, L., Olsson, A., Fervers, B., and Charbotel, B.
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TESTICULAR cancer ,TESTIS tumors ,GERM cell tumors ,OCCUPATIONAL exposure ,ORGANIC solvents ,RISK assessment ,TESTIS - Published
- 2024
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40. Effect of delayed diagnosis on neuroendocrine function in individuals with suprasellar germ cell tumors.
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Tao Tong, Jian Xu, Han Chen, Caiyan Mo, Dan Liang, and Liyong Zhong
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DELAYED diagnosis ,GERM cell tumors ,PITUITARY dwarfism ,TERATOCARCINOMA ,VASOPRESSIN ,END of treatment ,CANCER treatment - Abstract
Purpose: The impact of delayed diagnosis on tumor-related prognosis appears to be minimal in individuals with intracranial germ cell tumors (iGCTs). However, its effect on neuroendocrine functions remains unclear. We aimed to assess the effects of delayed diagnosis on neuroendocrine function in individuals with suprasellar GCTs. Methods: We conducted a retrospective cohort study of 459 individuals with suprasellar GCTs and categorized them into two groups based on disease duration: delayed diagnosis (> 6 months) and non-delayed diagnosis (= 6 months). We compared endocrinological symptoms, neuroendocrine dysfunction and its grading (categorized into 0-3 grades based on severity), and recovery from neuroendocrine dysfunction in both groups. Results: Patients with delayed diagnosis exhibited higher incidences of amenorrhea, slow growth, fatigue, and polyuria/polydipsia. Neuroendocrine dysfunction, including central adrenal insufficiency (CAI), central hypothyroidism (CHT), arginine vasopressin deficiency (AVP-D), growth hormone deficiency, hypogonadism, and hyperprolactinemia, was more pronounced in the delayed diagnosis group at diagnosis, the end of treatment, and the last follow-up. Furthermore, individuals with delayed diagnosis showed higher grades of neuroendocrine dysfunction at diagnosis (OR=3.005, 95% CI 1.929-4.845, p<0.001), end of oncologic treatment (OR=4.802, 95% CI 2.878-8.004, p<0.001), and last follow-up(OR=2.335, 95% CI 1.307-4.170, p=0.005) after adjusting for confounders. Finally, less recovery, particularly in CAI, CHT, and AVP-D, was seen among the group with delayed diagnosis after treatment. Conclusion: Among individuals with suprasellar GCTs, delayed diagnosis is associated with increased, more severe, and less recovered neuroendocrine dysfunction, emphasizing the importance of early diagnosis and treatment to reduce neuroendocrine dysfunction. [ABSTRACT FROM AUTHOR]
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- 2024
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41. Primary yolk sac tumor of the endometrium combined with situs inversus totalis: a case report and literature review
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Rong Liu, Yanru Wang, Xinfeng Wang, Xiujie Chen, and Jiangong Hu
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Yolk sac tumor ,Endometrium ,Situs inversus totalis ,Germ cell tumors ,Gynecology and obstetrics ,RG1-991 ,Public aspects of medicine ,RA1-1270 - Abstract
Abstract Background Yolk sac tumor (YST) is a highly malignant germ cell tumor, a majority of which originate from the gonads and are extremely rare from endometrium. Case presentation Here we present a case of a 42-year-old woman suffered from primary pure yolk sac tumor of the endometrium complicated with situs inversus totalis. The patient presented at our hospital with irregular vaginal bleeding. Imageological examination showed a space-occupying lesion in the cervix and the serum Alpha-fetoprotein (AFP) level was significantly high (more than 1210ng/ml). Then she underwent total hysterectomy, bilateral salpingo-oophorectomy and pelvic lymph node dissection. The subsequent postoperative pathological diagnosis was yolk sac tumor arising from the endometrium. Next, the patient was treated with 6 cycles of chemotherapy with Pingyangmycin, etoposide and cisplatin regimen and was alive without evidence of recurrence or distant metastases for 13 months. Conclusions This rare disease needs to be differentiated from endometrial epithelial neoplasia and the significant increase in AFP is helpful for diagnosis. Combined with previous literature reports, comprehensive staging laparotomy or maximum cytoreductive surgery complemented by standard chemotherapy can usually achieve a good efficacy.
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- 2024
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42. Utility of 18F-FDG PET/CT in Detecting Spinal Drop Metastases from Pineal Gland Tumors
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Kabilash Dhayalan, Harish Goyal, Pradap Palanivelu, and Dhanapathi Halanaik
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pineal gland ,spinal drops metastases ,18f-fdg pet/ct ,germ cell tumors ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 ,Biology (General) ,QH301-705.5 - Abstract
Pineal gland tumors are significant despite being rare (
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- 2024
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43. Perioperative Serum MicroRNA 371a-3p and 372-3p Levels in Patients with Clinically Localized Testicular Masses
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Richard S. Matulewicz, Fady Baky, Andrea Knezevic, Joel Sheinfeld, Brandon M. Williams, Rachel E. Kantor, Nicole Liso, Jahwa Hossain, Maria Bromberg, Alisa Valentino, Rachel So, Samuel A. Funt, Fei Ye, and Darren R. Feldman
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Biomarkers ,Germ cell tumors ,MicroRNA ,Testicular cancer ,Diseases of the genitourinary system. Urology ,RC870-923 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Background: MicroRNAs (miRNAs) show promise as blood-based tumor markers for germ cell tumors (GCTs), with miRNA-371-3p being the most studied. The marginal benefit of including other candidate miRNAs to aid with the management of testicular GCTs remains unclear. Objective: To assess the performance of our combined miRNA assay (371a-3p and 372-3p) in patients with clinically localized testicular masses. Design, setting, and participants: This was a retrospective review of patients prospectively enrolled in an ongoing protocol collecting serum miR-371a-3p and miR-372-3p levels (together, Memorial Sloan Kettering Cancer Center [MSK] miRNA assay [MMA]) in patients with a suspected or diagnosed testicular GCT. Outcome measurements and statistical analysis: The coprimary outcomes of interest were sensitivity and specificity of miR-371a-3p and 372-3p, individually and together, to detect nonteratomatous GCTs in the orchiectomy specimen. Secondary outcomes included additional assay diagnostic parameters, the relationship of patient and disease factors with variations in miRNA levels, and temporal patterns of miRNA normalization after orchiectomy. Results and limitations: Sixty-two patients were included, 52 had a viable GCT at orchiectomy, and ten had no cancer or a non-GCT. Forty-six patients with a GCT had positive preorchiectomy MMA (sensitivity 88.5% [95% confidence interval {CI}: 79.8, 97.2]), and one patient had positive preorchiectomy MMA but no GCT (specificity 90.0% [95% CI: 71.4, 100]). The diagnostic performance of miR-371a-3-p and miR-372-3p was similar. The time for miRNA to decrease to undetectable levels varied, with some patients having positive levels up to 3 wk after orchiectomy. Conclusions: The biomarkers miR-371a-3p and miR-372-3p demonstrated high sensitivity and specificity for localized testicular GCTs, but causes of variation in relative miRNA levels and time to normalization for individual patients remain unclear. Patient summary: We studied the ability of the blood-based biomarkers miR-371a-3p and miR-372-3p to detect testicular cancer (germ cell tumors) in patients with small testicular masses. We found that together and individually these were sensitive and specific for testicular cancer.
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- 2024
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44. Dominique Moceanu, Shannon Miller, and Dominique Dawes Take a Victory Lap.
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Yu, Christine
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SPORTS teams ,WOMEN'S sports ,SUSTAINABLE living ,COACH-athlete relationships ,RETIREMENT of athletes ,GERM cell tumors - Abstract
This article explores the experiences of three renowned gymnasts, Dominique Moceanu, Shannon Miller, and Dominique Dawes, who achieved gold medals at the 1996 Olympics in Atlanta. It examines their impact on women's sports and their aspirations for future generations of female athletes. The article also addresses the issue of abuse within the gymnastics community and advocates for changes that prioritize the well-being of athletes. These gymnasts have since become entrepreneurs, coaches, and advocates, utilizing their voices to promote safety in gymnastics and protect athletes. [Extracted from the article]
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- 2024
45. Cancer of Unknown Primary: When Imaging, Pathology, and Molecular Biology Do Not Match.
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Juarez-Vignon Whaley, Juan Jose, Pophali, Prateek, Chornenkyy, Yevgen, and Peters, Mary Linton
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CANCER of unknown primary origin , *MOLECULAR biology , *PATHOLOGY , *GERM cell tumors , *IMMUNOSTAINING , *LUNG cancer - Abstract
Cancers of unknown primary are aggressive and rare malignancies with a complex diagnosis and management. Here we present a case in which imaging, pathology, and molecular biology did not match for a specific tumor site and the importance of a multidisciplinary team for these complicated cases.Introduction: A man in his 70s with strong smoking history under workup for suspicion of metastatic lung cancer underwent lung mass biopsy. Immunohistochemical stains corresponded to hepatocellular/cholangiocarcinoma or germ cell tumor; however, dedicated liver and testicular studies including imaging and iscochrome 12p FISH were negative. Additionally, somatic variant profiling was not specific for any malignancy nor targetable variants. Given the pattern of disease, risk factors, and patient history, the patient received treatment for lung adenocarcinoma (carboplatin, pemetrexed, and pembrolizumab). The patient had a drastic improvement in dyspnea, weight gain, and was able to return to work.Case Presentation: This report describes a case in which immunohistochemistry and molecular profiling did not identify the tissue of origin and highlights the importance of a multidisciplinary team to reach a diagnosis and guide treatment without delaying patient care in patients with these diagnoses. [ABSTRACT FROM AUTHOR]Conclusion: - Published
- 2024
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46. Massive hemothorax induced by pulmonary arteriovenous malformation rupture: a case report and literature review.
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Li, Xiang, Duan, Lijun, Mu, Shengnan, Dong, Xin, Lu, Xiaoqian, and Cao, Dianbo
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HEMOTHORAX , *ARTERIOVENOUS malformation , *LITERATURE reviews , *HEREDITARY hemorrhagic telangiectasia , *GERM cell tumors , *ARTERIOVENOUS fistula - Abstract
Background: Pulmonary arteriovenous malformation (PAVM), also known as pulmonary arteriovenous fistula, is a rare vascular developmental anomaly. Most cases of PAVM are associated with hereditary hemorrhagic telangiectasia (HHT). Hemothorax associated with PAVM is even rarer, and management concerning this complication still challenges. Case presentation: A 55-year-old man with sudden onset of dyspnea and chest pain was admitted to our hospital. He had a medical history of epistaxis, intraperitoneal germ cell tumor and PAVM. Chest unenhanced CT revealed the left-sided pleural effusion together with partial passive atelectasis and gradual increase at the interval of six days. Diagnostic thoracocentesis further revealed hemorrhagic effusion. CT angiography (CTA) showed tortuously dilated lumen of the left lower pulmonary artery and PAVM with the formation of aneurysm. Due to his family's refusal of surgery, the patient underwent transcatheter embolization therapy. However, the left pleural effusion did not significantly reduce and there was a slow drop in hemoglobin value even after interventional treatment, indicating the possibility of ongoing active bleeding. Eventually, the patient received lobectomy of the left lower lobe with a satisfactory outcome. Conclusions: Massive hemothorax resulting from PAVM rupture into the pleural space can lead to fatal outcomes. CTA can accurately diagnose this pathologic condition. Transcatheter embolization is frequently used in the treatment of PAVM, but it may be challenging to achieve the desirable effect in patients with hemothorax. Combined with our case and literature review, direct radical surgery can lead to a successful outcome when PAVM complicated with hemothorax and a large diameter of the draining vein. [ABSTRACT FROM AUTHOR]
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- 2024
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47. Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis.
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Wang, Wen-Chung, Hou, Tai-Cheng, Kuo, Chen-Yun, and Lai, Yen-Chein
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COMPARATIVE genomic hybridization , *TERATOMA , *GERM cell tumors , *CHONDROGENESIS ,TUMOR genetics - Abstract
Background: Teratomas are a common type of germ cell tumor. However, only a few reports on their genomic constitution have been published. The study of teratomas may provide a better understanding of their stepwise differentiation processes and molecular bases, which could prove useful for the development of tissue-engineering technologies. Methods: In the present study, we analyzed the copy number aberrations of nine ovarian mature cystic teratomas using array comparative genomic hybridization in an attempt to reveal their genomic aberrations. Results: The many chromosomal aberrations observed on array comparative genomic hybridization analysis reveal the complex genetics of this tumor. Amplifications and deletions of large DNA fragments were observed in some samples, while amplifications of EVX2 and HOXD9-HOXD13 on 2q31.1, NDUFV1 on 11q13.2, and RPL10, SNORA70, DNASE1L1, TAZ, ATP6AP1, and GDI1 on Xq28 were found in all nine mature cystic teratomas. Conclusions: Our results indicated that amplifications of these genes may play an important etiological role in teratoma formation. Moreover, amplifications of EVX2 and HOXD9-HOXD13 on 2q31.1, found on array comparative genomic hybridization, may help to explain the characteristics of teratomas in chondrogenesis and osteogenesis. Summary: Nine ovarian mature cystic teratomas were analyzed by aCGH. The amplifications of EVX2 and HOXD9-HOXD13 on 2q31.1 can be used to explain the characteristics of teratomas in chondrogenesis and osteogenesis. [ABSTRACT FROM AUTHOR]
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- 2024
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48. Complex treatment of residual metastatic germ cell cancer: A single center experience.
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Fazekas, Fruzsina Eszter, Ujfaludi, Zsuzsanna, Biró, Krisztina, Páhi, Zoltán Gábor, Buzogány, István, Sükösd, Farkas, Pankotai, Tibor, and Beöthe, Tamás
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TERATOCARCINOMA , *URODYNAMICS , *GERM cells , *CANCER cells , *GERM cell tumors , *LYMPHADENECTOMY , *HEALTH facilities - Abstract
Testicular cancer is the most common solid malignancy among men aged 15–35. Radical orchiectomy and platinum-based chemotherapy (BEP) are curative in the majority of patients, including advanced, metastatic cases. According to current urooncology guidelines all non-seminoma patients harbouring post-chemotherapy residual masses of ≥ 1 cm should undergo salvage retroperitoneal lymph node dissection (RPLND). However, only 10% of residual tumors contain viable disease. To assess patient outcomes and complications considering different treatment regimens and clinical characteristics. In a retrospective cross-sectional study patients (n=127) who underwent postchemotherapy RPLND between 2007 and 2023 at our referral center were evaluated. The patients received systemic treatment at various oncology centers. The number of BEP cycles received were occasionally different from standard. Only patients with normal postchemotherapy serum tumor markers and primary testicular or extragonadal germ cell neoplasms were included. Treatment groups were established according to the number of BEP cycles received, and the extent of RPLND (bilateral or modified template). Treatment outcomes and complications were assessed. Standard 3–4 courses of BEP were received by 100 (78,7%) patients, while 11 (8,7%) patients underwent less, and 16 (12,6%) more courses than standard. On histopathologic evaluation viable germ cell tumor, teratoma, and necrosis/fibrosis was present in 26 (20,5%), 67 (52,7%) and 34 (26,8%) of specimen, respectively. In the 5–6 BEP series subgroup high rate of viable disease (37,5%) was found and significantly more nephrectomies were performed, than other chemotherapy subgroups. Extratesticular GCT, viable disease in residual mass or progression after RPLND indicated lower survival. Mild (Clavien-Dindo I-II) or no postoperative complications were reported in 93,7% of cases. The study suggests no significant benefit from exceeding 3–4 courses of BEP. Timely salvage RPLND should be performed in high volume centers for optimal treatment outcomes with acceptable complication rates. Adherence to the Heidenreich criteria is advisable where practical. • No benefit from more than 3–4 courses of chemotherapy in metastatic germ cell cancer. • Viable disease in residual mass indicated lower survival. • High rate of viable disease in patients receiving 5–6 courses of chemotherapy. • Heidenreich criteria is used for salvage retroperitoneal resection if feasible. • Perform retroperitoneal dissection in high volume centers for optimal outcomes. [ABSTRACT FROM AUTHOR]
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- 2024
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49. Germ Cell Tumor of the Testis: Lethal Subtypes of a Curable Cancer.
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Jackson, Jamaal C., Sanchez, Darren, Johns, Andrew C., Campbell, Matthew T., Aydin, Ahmet M., Gokden, Neriman, Maraboyina, Sanjay, Muesse, Jason L., Ward, John F., Pisters, Louis L., Zacharias, Niki M., Guo, Charles C., and Tu, Shi-Ming
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GERM cell tumors , *TESTIS tumors , *TROPHOBLASTIC tumors , *TREATMENT effectiveness , *TERATOMA , *SURGICAL excision - Abstract
Germ cell tumor of the testis (GCT) is a curable cancer even when it is widely metastatic; however, outcomes can differ based on tumor histology. Chemo-resistance in certain phenotypes, such as teratoma and yolk sac tumor, contributes to poor clinical outcomes in some patients with GCT. Despite this resistance to S-YSTemic therapy, many of these tumor subtypes remain amenable to surgical resection and possible cure. In this study, we report on a series of seven patients highlighting two chemo-resistant subtypes of nonseminomatous germ cell tumor (NSGCT), sarcomatoid yolk sac tumor (S-YST), and epithelioid trophoblastic tumor (ETT) for which early resection rather than additional salvage chemotherapy or high-dose intense chemotherapy might provide a superior clinical outcome and enhance cure rate. [ABSTRACT FROM AUTHOR]
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- 2024
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50. Unusual imaging findings associated with abdominal pediatric germ cell tumors.
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Gagnon, Marie-Helene, Derenoncourt, Paul-Robert, Rayamahi, Sampanna, Taylor, Susan, Parikh, Ashishkumar K., Ponisio, Maria R., and Khanna, Geetika
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GERM cell tumors , *ANTI-NMDA receptor encephalitis , *PRECOCIOUS puberty , *SYMPTOMS , *BIOMARKERS , *PARANEOPLASTIC syndromes - Abstract
Germ cell tumors of childhood are tumors arising from germline cells in gonadal or extragonadal locations. Extragonadal germ cell tumors are characteristically located in the midline, arising intracranially or in the mediastinum, retroperitoneum, or pelvis. These tumors are generally easily diagnosed due to typical sites of origin, characteristic imaging findings, and laboratory markers. However, germ cell tumors can be associated with unusual clinical syndromes or imaging features that can perplex the radiologist. This review will illustrate atypical imaging/clinical manifestations and complications of abdominal germ cell tumors in childhood. These features include unusual primary tumors such as multifocal primaries; local complications such as ovarian torsion or ruptured dermoid; atypical presentations of metastatic disease associated with burned-out primary tumor, growing teratoma syndrome, and gliomatosis peritonei; endocrine manifestations such as precocious puberty and hyperthyroidism; and antibody mediated paraneoplastic syndrome such as anti-N-methyl-D-aspartate-receptor antibody-mediated encephalitis. This review aims to illustrate unusual imaging features associated with the primary tumor, metastatic disease, or distant complications of abdominal germ cell tumors of childhood. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
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