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Adenosine deaminases acting on RNA (ADARs) impact diverse cellular processes and pathological conditions, but their functions in early cell-fate specification remain less understood. To gain insights here, we began by charting time-course RNA editing profiles in human organs from fetal to adult stages. Next, we utilized hPSC differentiation to experimentally probe ADARs, harnessing brain organoids as neural specific, and teratomas as pan-tissue developmental models. We show that time-series teratomas faithfully recapitulate fetal developmental trends, and motivated by this, conducted pan-tissue, single-cell CRISPR-KO screens of ADARs in teratomas. Knocking out ADAR leads to a global decrease in RNA editing across all germ-layers. Intriguingly, knocking out ADAR leads to an enrichment of adipogenic cells, revealing a role for ADAR in human adipogenesis. Collectively, we present a multi-pronged framework charting time-resolved RNA editing profiles and coupled ADAR perturbations in developmental models, thereby shedding light on the role of ADARs in cell-fate specification.

•Chronic chemical peritonitis caused by spontaneous rupture of a mature cystic teratoma may result in prolonged hospitalization and respiratory decline and can mimic a gynecologic malignancy.•Earlier surgical intervention for mature teratoma may prevent morbidity.•Inclusion of a gynecologic oncologist is advised for management discussions and/or surgical back-up.•Complex benign gynecologic surgeries may have some benefit for gynecologic oncologic trainees, which can be used for later oncologic cases.

Testicular germ cell tumors (TGCTs) are relatively common in young men, making accurate diagnosis and prognosis assessment essential. MicroRNAs (miRNAs), including microRNA-371a-3p (miR-371a-3p), have shown promise as biomarkers for TGCTs. This review discusses the recent advancements in the use of miRNA biomarkers in TGCTs, with a focus on the challenges surrounding the noninvasive detection of teratomas. Circulating miR-371a-3p, which is expressed in undifferentiated TGCTs but not in teratomas, is a promising biomarker for TGCTs. Its detection in serum, plasma, and, potentially, cystic fluid could be useful for TGCT diagnosis, surveillance, and monitoring of therapeutic response. Other miRNAs, such as miR-375-3p and miR-375-5p, have been investigated to differentiate between TGCT subtypes (teratoma, necrosis/fibrosis, and viable tumors), which can aid in treatment decisions. However, a reliable marker for teratoma has yet to be identified. The clinical applications of miRNA biomarkers could spare patients from unnecessary surgeries and allow for more personalized therapeutic approaches. Particularly in patients with residual masses larger than 1 cm following chemotherapy, it is critical to differentiate between viable tumors, teratomas, and necrosis/fibrosis. Teratomas, which mimic somatic tissues, present a challenge in differentiation and require a comprehensive diagnostic approach. The combination of miR-371 and miR-375 shows potential in enhancing diagnostic precision, aiding in distinguishing between teratomas, viable tumors, and necrosis. The implementation of miRNA biomarkers in TGCT care could improve patient outcomes, reduce overtreatment, and facilitate personalized therapeutic strategies. However, a reliable marker for teratoma is still lacking. Future research should focus on the clinical validation and standardization of these biomarkers to fully realize their potential.

A very large fetal pericardial teratoma was diagnosed at 28 weeks gestation, prompting urgent multidisciplinary expert consultations to weigh the risks and benefits of various prenatal invasive procedures and preterm delivery for postnatal surgical management. Ultimately, the infant was born by planned cesarean section and underwent immediate cardiopulmonary bypass and surgical resection.

Central nervous system (CNS) embryonal tumors represent a diverse group of neoplasms and have a peak incidence in early childhood. These tumors can be located anywhere within the CNS, and presenting symptoms typically represent tumor location. These tumors display distinctive findings on neuroimaging and are staged using magnetic resonance imaging of the brain and spine as well as evaluation of cerebrospinal fluid. Diagnosis is made based on an integrated analysis of histologic and molecular features via tissue sampling. Risk stratification is based on integration of clinical staging and extent of resection with histologic and molecular risk factors. The therapeutic approach for these tumors is multimodal and includes surgery, chemotherapy, and radiation, tailored to the individual patient factors (including age) and specific tumor type. Comprehensive supportive care including management of nausea, nutrition support, pain, fertility preservation, and mitigation of therapy-related morbidity (including hearing protection) is imperative through treatment of CNS embryonal tumors. Despite advances in therapy and supportive care, the long-term consequences of current treatment strategies are substantial. Integration of less toxic, molecularly targeted therapies and a comprehensive, multidisciplinary approach to survivorship care are essential to improving survival and the overall quality of life for survivors. [ABSTRACT FROM AUTHOR]

Mature teratoma is a subtype of intracranial germ cell tumors (GCTs), distinguished from malignant GCTs by its benign nature and excellent prognosis. Typically, no adjuvant therapy is recommended following gross total resection (GTR). We report a case of a prepubertal girl with a suprasellar mature teratoma that recurred as a germinoma 6 months post-GTR. A 7-year-old girl presented with headache and polydipsia. Imaging revealed a suprasellar mass. The patient underwent GTR, and pathological diagnosis confirmed a mature teratoma without other GCT components. Six months later, MRI identified a newly developed suprasellar mass adjacent to the optic chiasm. A second surgery confirmed the mass as a germinoma. The patient subsequently underwent adjuvant chemotherapy combined with proton therapy, resulting in complete remission. The diagnosis of mature teratoma must be approached with caution, and thorough follow-up is imperative, particularly in cases involving female patients, prepubertal age, or non-pineal locations. [ABSTRACT FROM AUTHOR]

The treatment of patients affected by a teratoma with somatic-type malignancy (STM) is challenging, since they are characterized by a poor prognosis, due to chemoresistance to standard cisplatin-based regimens. Only five more case reports were described for melanomatous STM and for which there are no data available for efficacy evidences of immune checkpoint inhibitors in this setting. Here we report the case of a patient with an initial diagnosis of mediastinal pure seminoma at the first biopsy. After four cycles of a standard cisplatin-based regimen and a partial response, a radical surgery was performed, revealing a mediastinal teratoma with triple STM component (melanoma, leiomyoarcoma and primitive neuroectodermal tumor). However, during post-surgical follow-up, he developed distant metastases from the melanomatous component and a first-line treatment with immune checkpoint inhibitors (ICI) was started. [ABSTRACT FROM AUTHOR]

Primary mediastinal apocrine adenocarcinoma is extremely rare, with only one case reported to date. Here, we report a surgical case of primary mediastinal apocrine adenocarcinoma. An anterior mediastinal cystic tumor with calcification was identified on chest computed tomography scan in a 51‐year‐old female patient undergoing maintenance hemodialysis. The tumor was 19 mm in size, did not invade the adjacent organs or show distant metastases, and was surgically removed. Microscopic examination revealed that the tumor cells exhibited cribriform or solid proliferation patterns with thick fibrous capsules. The tumor cells had an abundant eosinophilic cytoplasm, and decapitation secretion was noted. Immunohistochemistry revealed positivity for GCDFP‐15 and androgen receptors, with Ki‐67 positivity at 10%. The cyst wall exhibited extensive fibrosis and keratinized material, with bone and bronchial glands identified at the cyst periphery; the tumor cells were contiguous with those structures. The patient was diagnosed with apocrine adenocarcinoma arising from a mature cystic teratoma. The patient has maintained a recurrence‐free status without adjuvant therapy for 6 years after surgery. This case presents a small primary mediastinal apocrine adenocarcinoma that achieved remarkable long‐term survival. [ABSTRACT FROM AUTHOR]

Background: We present the case of a rare occurrence of an anterior mediastinal mature teratoma extending into the neck, commonly referred to as a cervicothoracic mature teratoma. Case presentation: A 19-year-old female presented with right-sided neck pain and swelling, which were found to be attributed to a 14 cm cystic lesion originating from the right thyroid lobe and extending into the mediastinum. A diagnosis of mediastinal teratoma with extension to the neck was made. Robot-assisted thymectomy was initiated but was complicated by dense tumor adherence to the superior vena cava and brachiocephalic veins, prompting a switch to a midline sternotomy. Simultaneous resection of the right thyroid lobe was performed due to inflammation. The transition to a midline sternotomy allowed successful excision of the tumor, which was confirmed to be a mature teratoma confined to the thoracic region. The patient's favorable postoperative course led to discharge on day 5 with no recurrence at nine months. Conclusions: Emphasizing the challenges and the importance of prompt intervention in the management of mediastinal teratomas with neck extension. [ABSTRACT FROM AUTHOR]

Central nervous system (CNS) cancers are responsible for high rates of morbidity and mortality worldwide. Malignant CNS tumors such as adult Glioblastoma (GBM) and pediatric embryonal CNS tumors such as medulloblastoma (MED) and atypical teratoid rhabdoid tumors (ATRT) present relevant therapeutic challenges due to the lack of response to classic treatment regimens with radio and chemotherapy. Recent findings on the Zika virus' (ZIKV) ability to infect and kill CNS neoplastic cells draw attention to the virus' oncolytic potential. Studies demonstrating the safety of using ZIKV for treating malignant CNS tumors, enabling the translation of this approach to clinical trials, are scarce in the literature. Here we developed a co-culture model of mature human cerebral organoids assembled with GBM, MED or ATRT tumor cells and used these assembloids to test ZIKV oncolytic effect, replication potential and preferential targeting between normal and cancer cells. Our hybrid co-culture models allowed the tracking of tumor cell growth and invasion in cerebral organoids. ZIKV replication and ensuing accumulation in the culture medium was higher in organoids co-cultured with tumor cells than in isolated control organoids without tumor cells. ZIKV infection led to a significant reduction in tumor cell proportion in organoids with GBM and MED cells, but not with ATRT. Tumoroids (3D cultures of tumor cells alone) were efficiently infected by ZIKV. Interestingly, ZIKV rapidly replicated in GBM, MED, and ATRT tumoroids reaching significantly higher viral RNA accumulation levels than co-cultures. Moreover, ZIKV infection reduced viable cells number in MED and ATRT tumoroids but not in GBM tumoroids. Altogether, our findings indicate that ZIKV has greater replication rates in aggressive CNS tumor cells than in normal human cells comprising cerebral organoids. However, such higher ZIKV replication in tumor cells does not necessarily parallels oncolytic effects, suggesting cellular intrinsic and extrinsic factors mediating tumor cell death by ZIKV. [ABSTRACT FROM AUTHOR]

ABSTRACT: Aims: This study aims to review our experience of treating ovarian masses in children with an emphasis on clinical presentation, diagnosis, treatment, and outcome. Methods: We retrospectively reviewed the electronic medical records of all patients below 18 years of age who underwent surgical treatment for ovarian masses at our institute between 2009 and 2023. Study variables included demography, clinical presentation, physical findings, tumor markers, radiologic features, operative details, histopathology, follow-up status, and overall survival. Results: During the study period, 30 patients with a mean age of 10.07 years (range: 15 days–18 years) underwent surgical treatment for ovarian masses. Nonneoplastic ovarian masses were seen in 5 (16.7%) patients, whereas 25 (83.3%) patients had benign (10 [33.3%], borderline 3 [10%], or malignant 12 [40%]) ovarian neoplasms. The most common clinical presentation in the benign group was abdominal pain (n = 6), whereas painless abdominal mass (n = 6) was the predominant complaint in children with malignant tumors. A functional ovarian mass presenting with precocious puberty or virilization was seen in 5 (16.7%) patients. On imaging, nonneoplastic and benign lesions had a mean size of 4.33 (range: 3.1–6) cm and 12.63 (range: 2.8–28) cm, respectively, whereas borderline and malignant masses had a mean tumor size of 22.5 (range: 6.5–32) cm and 12.55 (range: 3.5–18.7) cm, respectively (P < 0.05). The cystic component was identified in all nonneoplastic and benign tumors, whereas the solid component was present in all borderline and malignant lesions (P < 0.05). Tumor markers such as serum alpha-fetoprotein and beta-human chorionic gonadotropin were raised in 8 (66.67%) of malignant tumors, whereas markers were normal in all benign lesions and borderline malignant lesions and 4 (33.33%) of malignant tumors. Lactate dehydrogenase (LDH) was also raised in all malignant masses (n = 12), whereas it was normal in all benign and borderline malignant masses (n = 18). In 6 (20%) patients with nonneoplastic and benign masses with maximum tumor size <6 cm, the laparoscopic approach was adopted, whereas open surgery was preferred in the rest of the patients. At a mean follow-up of 53.5 (range: 4–117) months, all patients are alive and disease free. Conclusions: Preoperative imaging characteristics (tumor size and solid component) and raised tumor markers may help us to differentiate between benign and malignant ovarian pathologies. The overall prognosis of pediatric ovarian tumors seems to be favorable. [ABSTRACT FROM AUTHOR]

Objectives: Mediastinal germ cell tumors are rare and few large-scale studies on mediastinal germ cell tumors are reported. We aimed to investigate the clinical characteristics and survival outcomes of patients with mediastinum germ cell tumors in Japan. Methods: A hospital-based cancer registry data in Japan was used to identify and enroll patients diagnosed with mediastinal germ cell tumors in 2012–2013. The datasets were registered from 80 institutions. Results: The selection criteria were met by 123 patients, the majority of whom were male. The median age at diagnosis was 39 years (range 25–89 years) and the most common age groups at diagnosis was 30–39 years, followed by 40–49 years and ≥ 50 years. The histology of non-seminoma (55.3%) was slightly more frequent than that of seminoma (44.7%). The most common histological subtype in non-seminoma was yolk sac tumor, followed by mixed germ cell tumor. The 5-year survival of seminoma and non-seminoma were 96.4% and 57.3%, respectively (p < 0.001). Non-seminomatous mediastinal germ cell tumors, malignant teratomas, mixed germ cell tumors, and yolk sac tumors had comparable survival rates, while those with choriocarcinoma showed the worst prognosis. Conclusions: This is the first report showing the clinical characteristics and survival outcomes of mediastinal germ cell tumors in Japan using a real-world large cohort database. [ABSTRACT FROM AUTHOR]

Testicular germ cell tumours (GCT) are divided into three different subtypes (types I–III) regarding to their developmental origin, histological differences and molecular features. Type I GCT develop from disturbed primordial germ cells and most commonly occur in children and young adolescents, which is why they are referred to as prepubertal GCT. Type II GCT develop from a non‐invasive germ cell neoplasia in situ (GCNIS) and show an isochromosome 12p (i12p) or gain of 12p material as a common and characteristic molecular alteration. Type III GCT originate from distorted postpubertal germ cells (e.g. spermatogonia) in adult patients and have changes on chromosome 9 with amplification of the DMRT1 gene. Type I GCT encompass prepubertal‐type teratomas and yolk‐sac tumours (YST). Type II GCT include seminoma, embryonal carcinoma, choriocarcinoma, postpubertal‐type teratoma and postpubertal‐type YST. Types I and II GCT both show similar morphology, but are separated from each other by the detection of a GCNIS and an i12p in type II GCT. For type II GCT it is especially important to detect non‐seminomatous elements, as these tumours have a worse biological behaviour and need a different treatment to seminomas. In contrast to types I and II GCT, type III tumours are equivalent to spermatocytic tumours and usually occur in elderly men, with few exceptions in young adults. The development of types I and II GCT seems to depend not upon driver mutations, but rather on changes in the epigenetic landscape. Furthermore, different pluripotency associated factors (e.g. OCT3/4, SOX2, SOX17) play a crucial role in GCT development and can be used as immunohistochemical markers allowing to distinguish the different subtypes from each other in morphologically challenging tissue specimens. Especially in metastatic sites, a morphological and immunohistochemical diagnostic algorithm is important to detect small subpopulations of each non‐seminomatous GCT subtype, which are associated with a poorer prognosis and need a different treatment. Furthermore, primary extragonadal GCT of the retroperitoneum or mediastinum develop from misguided germ cells during embryonic development, and might be challenging to detect in small tissue biopsies due to their rarity at corresponding sites. This review article summarises the pathobiological and developmental aspects of the three different types of testicular GCT that can be helpful in the histopathological examination of tumour specimens by pathologists. [ABSTRACT FROM AUTHOR]

Ectopic thyroid tissue along the line of descent of thyroid from foramen caecum along thyroglossal duct to the normal anatomic location in neck has been reported. Ectopic thyroid tissue in adrenal gland (ETTAG) is rarely encountered and very few cases have been reported in literature. The most common differential diagnosis to be considered when thyroid follicles are noted in adrenal gland are metastasis from a thyroid malignancy or a teratoma or an ectopic thyroid tissue in adrenal gland. We present a case of an adrenal incidentaloma in a young pregnant female which was diagnosed to be ectopic thyroid tissue in adrenal gland. The review of literature of similar cases of this rare embryological aberrance is discussed. To our knowledge, only 16 such cases have been documented in literature and our case is the first one from Indian subcontinent and the largest documented with respect to size. [ABSTRACT FROM AUTHOR]

Human amniotic epithelial cells (hAECs) have shown promising therapeutic effects in numerous studies on various diseases due to their properties such as low immunogenicity, immunomodulation, paracrine effect, and no teratoma formation in vivo. Nevertheless, there are still many problems in archiving the large-scale clinical application of hAECs, ranging from the vague definition of cell properties to the lack of clarification of the motion of actions in cell therapies, additionally, to the gap between cell quantities with limited proliferation capacity. This review provides a detailed overview of hAECs in the aspects of the lineage development of amniotic epithelial cell, cell characteristics and functional roles, ex vivo cell cultivation and expansion systems, as well as their current status and limitations in clinical applications. This review also discusses the advantages, limitations and feasibility of hAECs, and anticipates their prospects as cell therapy products, with the aim of further promoting their clinical applications. [ABSTRACT FROM AUTHOR]

Inactivating mutations in SMARCB1 confer an oncogenic dependency on EZH2 in atypical teratoid rhabdoid tumors (ATRTs), but the underlying mechanism has not been fully elucidated. We found that the sensitivity of ATRTs to EZH2 inhibition (EZH2i) is associated with the viral mimicry response. Unlike other epigenetic therapies targeting transcriptional repressors, EZH2i-induced viral mimicry is not triggered by cryptic transcription of endogenous retroelements, but rather mediated by increased expression of genes enriched for intronic inverted-repeat Alu (IR-Alu) elements. Interestingly, interferon-stimulated genes (ISGs) are highly enriched for dsRNA-forming intronic IR-Alu elements, suggesting a feedforward loop whereby these activated ISGs may reinforce dsRNA formation and viral mimicry. EZH2i also upregulates the expression of full-length LINE-1s, leading to genomic instability and cGAS/STING signaling in a process dependent on reverse transcriptase activity. Co-depletion of dsRNA sensing and cytoplasmic DNA sensing completely rescues the viral mimicry response to EZH2i in SMARCB1-deficient tumors. Here the authors suggest that in Atypical Teratoid Rhabdoid Tumors, EZH2 inhibition triggers a viral mimicry response via the activation of genes with intronic IR-Alu elements. This response also involves enhanced LINE-1 expression, leading to activation of cGAS/STING signalling. [ABSTRACT FROM AUTHOR]

Purposes: Intradural spinal teratomas are very rare in adults and may cause severe neurological deficits. Tumors often tightly attached to the spinal cord, making complete resection difficult. The purpose of this study was to evaluate the impact of surgical resection extent on neurologic outcomes in these patients. Methods: A retrospective study of IST patients who underwent microsurgery in our center was performed. Age, sex, symptoms, duration of symptoms, tumors size, neurologic status, extent of resection, and surgical outcome were reviewed for each patient. The Kruskal-Wallis test and multivariate logistic regression were used to assess affecting factors on neurological outcomes. Results: A total of 26 adult patients underwent microsurgical management were studied. The mean age at surgery was 41.3 years (range 23–66 years). The mean follow-up was 109.5 months (range 17–216 months). Gross total resection (GTR) was achieved in 12 (46.2%) cases and subtotal resection (STR) in 14 (53.8%) cases. 6 patients (23.1%) had recurrence, and the mean time to recurrence (TTR) was 86.0 months (range 3–168 months) after the first surgery. No recurrence was found after the second surgery during follow-up. All tumors were pathologically confirmed as mature teratomas. In analysis of neurological outcomes, patients with shorter symptom duration (p = 0.035) and lower MMcS grade (p = 0.025) had better postoperative neurological outcomes. The neurological prognosis of STR patients was better than that of GTR patients (p = 0.041). Multivariate logistic regression confirmed that the extent of resection differences remained significant (p = 0.017). Conclusions: Surgical resection is optimal therapeutical management of IST and can obtain a good prognosis. STR appeared to be superior to GTR in terms of neurological improvement. Considering the characteristics of slow growth and long TTR of IST, STR may be a feasible option for highly adherent tumors. [ABSTRACT FROM AUTHOR]

Fetal teratomas, though rare, represent a significant proportion of tumors arising during fetal development. These tumors arise from pluripotent cells and can present in varying degrees of severity, ranging from incidental findings to life-threatening conditions. Prenatal imaging, via ultrasound and MRI, is necessary for diagnosis and risk assessment. The management of fetal teratomas, particularly those associated with complications like hydrops or airway obstruction, often requires a multidisciplinary approach. Interventions such as ex-utero intrapartum treatment (EXIT) procedures and minimally invasive alternatives have emerged as critical tools to improve neonatal outcomes in severe cases. Despite advances in fetal therapies, careful prenatal monitoring and individualized management remain essential, especially for tumors with high vascularity or those that risk compromising cardiac output. This review explores the diagnostic methods, management strategies, and outcomes associated with fetal teratomas, highlighting recent advancements that contribute to improving survival and reducing morbidity in affected neonates. [ABSTRACT FROM AUTHOR]

Background: Anti‐NMDA receptor (A‐NMDAR) encephalitis is an autoimmune condition often associated with ovarian teratoma. Surgical removal of the teratoma is generally curative, and recurrence is uncommon. Case: A 14‐year‐old female presented with psychiatric symptoms and was ultimately diagnosed with A‐NMDAR encephalitis during a prolonged hospitalization. She was found to have bilateral ovarian teratomas, underwent laparoscopic bilateral ovarian cystectomy, and returned to neurologic baseline within 2 months. One year later, the patient was re‐presented with similar symptoms and was diagnosed with recurrent A‐NMDAR encephalitis. Initial imaging was negative for ovarian teratomas. After another prolonged hospitalization, repeat imaging ultimately demonstrated a suspected left ovarian teratoma. A left salpingo‐oophorectomy was performed, and the patient's condition again fully recovered. Conclusion: This case of A‐NMDAR encephalitis presented with many atypical features including neuropsychiatric presenting symptoms, bilateral teratomas, and severe recurrence of disease. While imaging is the recommended modality for investigation of etiology, no teratoma was identified on the second presentation, leading to an ethical and clinical conundrum in this adolescent patient. More research is needed to investigate other diagnostic methods for A‐NMDAR encephalitis without distinct teratoma on imaging in female patients. [ABSTRACT FROM AUTHOR]

Background: Thymic pathologies represent the most common lesions of the anterior mediastinum. They may be classified as malignant or benign. Current diagnostic pathways recommend an initial assessment with computed tomography (CT) imaging to delineate potentially malignant thymic lesions. Despite this, high rates of non-therapeutic thymectomy continue to be observed. This carries with it significant anaesthetic, operative, and post-operative risks, in addition to healthcare costs. Consequently, there is a growing interest in magnetic resonance imaging (MRI) as a primary diagnostic modality for lesions of the anterior mediastinum. This narrative review outlines the current approaches to the evaluation of thymic lesions, with a discussion of the strengths and limitations of CT and MRI imaging modalities. It also evaluates the current discourse on the use of upfront MRI for thymic and anterior mediastinal lesion assessment. Methods: A narrative review was performed following a search on the Medline database. Articles that were evaluated had explored the role of MRI on the evaluation of thymic and anterior mediastinal lesions. Results: Current work-up for thymic and anterior mediastinal lesions are highly variable and centre around the use of CT. Upfront MRI demonstrates a similar accuracy to CT for various thymic and anterior mediastinal pathologies; however, the efforts to integrate this approach into routine practice remain in their infancy, with no standardised guidelines that exist. Conclusions: This narrative review demonstrates that there is a paucity of evidence relating to the sensitivity and specificity of MRI compared to CT for thymic lesion analysis and their subsequent relationship with non-therapeutic thymectomy. Future prospective trials to assess the role of MRI in thymic lesion determination are required to understand whether MRI can more accurately characterise these lesions to reduce non-therapeutic thymectomy. Additionally, further research efforts are required to characterise best-practice methods for integrating MRI into diagnostic pathways for these lesions in a cost-effective and resource-conscious manner. [ABSTRACT FROM AUTHOR]

Aneuploidy, a deviation of the chromosome number from euploidy, is one of the hallmarks of cancer. High levels of aneuploidy are generally correlated with metastasis and poor prognosis in cancer patients. However, the causality of aneuploidy in cancer metastasis remains to be explored. Here we demonstrate that teratomas derived from aneuploid murine embryonic stem cells (ESCs), but not from isogenic diploid ESCs, disseminated to multiple organs, for which no additional copy number variations were required. Notably, no cancer driver gene mutations were identified in any metastases. Aneuploid circulating teratoma cells were successfully isolated from peripheral blood and showed high capacities for migration and organ colonization. Single-cell RNA sequencing of aneuploid primary teratomas and metastases identified a unique cell population with high stemness that was absent in diploid ESCs-derived teratomas. Further investigation revealed that aneuploid cells displayed decreased proteasome activity and overactivated endoplasmic reticulum (ER) stress during differentiation, thereby restricting the degradation of proteins produced from extra chromosomes in the ESC state and causing differentiation deficiencies. Noticeably, both proteasome activator Oleuropein and ER stress inhibitor 4-PBA can effectively inhibit aneuploid teratoma metastasis. Aneuploidy is associated with cancer metastasis, but the causal relationship between them is unclear. Here the authors show that aneuploid murine embryonic stem cells lead to teratomas that can spread to multiple organs without requiring additional driver gene mutations and identify unique cell populations with high stemness in aneuploid teratomas. [ABSTRACT FROM AUTHOR]

Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder with a variety of clinical manifestations. It has been established that anti-NMDAR encephalitis may be related to ovarian teratoma in female patients. However, a considerable number of patients have no obvious evidence of ovarian teratoma during the onset of the disease. Case: A 25-year-old previously-healthy female experienced a series of acute symptoms within two days, including confusion, disorientation, short-term memory loss, auditory hallucinations, abnormal behavior, refractory status epilepticus, etc. Her brain MRI and abdominal imaging showed no definite abnormality while her electroencephalogram exhibited the presence of low to moderate amplitude sharp, spike, and multi-spike waves. Serum and cerebrospinal fluid tests yielded positive results for anti-NMDAR antibodies. However, an ultrasound scan failed to identify an ovarian teratoma. Consequently, the diagnosis of anti-NMDAR encephalitis without teratoma was made after 4 days onset. After the plasma exchange and immunoglobulin therapy, her neurological symptoms improved and obtained a clinical cure. In the next eight months of follow-up, the patient accidentally touched a lump in the lower abdomen without any symptoms, and abdominal ultrasound and CT scan revealed a left ovarian tumor. Then she underwent left ovarian teratoma resection surgery and histopathology showed a mature cystic teratoma with neural components. The patient continued to receive five years of follow-up, and her condition remained stable without any recurrence, except that there had been a low titer of anti-NMDAR antibody in her serum. Conclusion: Our case demonstrated the importance of long-term follow-up for female patients with anti-NMDAR encephalitis, since anti-NMDAR encephalitis-associated ovarian teratomas may develop in a delayed manner, even without any symptoms. [ABSTRACT FROM AUTHOR]

Case: A 1-year old boy was presented with cauda equina syndrome and progressive loss of motor function in lower limbs. MRI and CT scans revealed a sacrococcygeal teratoma with metastases para-aortically and in L3 producing compression into the epidural space. Despite metastases and a progressive cauda equina, neoadjuvant treatment was given to achieve cytoreduction for neurological recovery and facilitate curative treatment. Conclusion: Malignant sacrococcygeal teratoma with intraspinal infiltration or metastasis requires surgical and adjuvant treatment. If primary neurologic function-sparing surgery makes curative treatment impossible, adequate and quick decompression of neural structures with similar results can be achieved by preoperative chemotherapy, avoiding the local spill of malignant cells. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Sacrococcygeal teratoma (SCT), a rare germ cell malignancy in newborns, necessitates prompt surgical intervention for complete resection. Long‐term follow‐up is crucial for monitoring recurrence and managing potential complications, regardless of histopathological findings, ensuring optimal outcomes and early intervention if needed. [ABSTRACT FROM AUTHOR]

Germ cell tumors (GCTs) are categorized as gonadal or extra‐gonadal, based on the origin. Extra‐gonadal GCTs predominantly manifest within the central nervous system (CNS), mediastinum, retroperitoneum, and sacrococcygeal region. These malignancies are most frequently diagnosed in the pediatric, adolescent, and young adult demographics. Incidences of GCT within the nasal cavity are notably scarce, with only six cases documented. This report details the case of a 70‐year‐old man who presented with a left nasal mass ultimately diagnosed as immature teratoma. A remarkable aspect of this case was the detection of SMARCA4 (BRG1) loss through immunohistochemical analysis. In addition, methylation profiling aligned this case with CNS GCTs, specifically those classified as non‐germinomatous GCTs. This molecular characterization informed a tailored therapeutic strategy incorporating carboplatin and etoposide, alongside localized irradiation. This individualized treatment regimen achieved favorable outcomes, with the patient remaining recurrence free for over three years. This highlights the need for precise therapeutic approaches in the management of extragonadal GCTs, particularly those arising in atypical anatomical locations. The present case accentuates the significance of thorough diagnostic evaluations and customized treatment plans for rare GCT presentations. Further empirical and clinical investigations are warranted to enhance our understanding of and refine therapeutic protocols for such exceptional cases. [ABSTRACT FROM AUTHOR]

Teratomas are rare tumors that originate from all three primary germinal layers and can develop anywhere along the body's midline, most commonly in the sacrococcygeal area. Within the head-and-neck region, they are infrequent, especially in the oropharyngeal area, and predominantly occur in infants. This case report presents an unusual instance of a teratoma in the left palatine tonsil, also known as giant epignathus, of a 25-year-old female. The patient experienced a progressively enlarging mass over six to seven months without recurrent sore throat, fever, respiratory difficulties, or weight loss. Clinical and imaging assessments revealed a 2 cm x 3 cm irregular mass in the left palatine tonsil, which was surgically excised. Histopathology confirmed a mature teratoma. The patient was followed up for six months without evidence of recurrence. This case underlines the importance of considering teratomas in the differential diagnosis of tonsillar masses, even in adults, and highlights complete surgical excision as the treatment of choice to minimize recurrence risks and achieve optimal patient outcomes. [ABSTRACT FROM AUTHOR]

Teratoma is a germ cell tumor composed of 2 or 3 germ cell layers, and it can occur in various parts of the human body. However, teratomas of the renal hilum are particularly rare, and those complicated by carcinoids are even more uncommon. Herein, we report the example of an asymptomatic 49-year-old woman in whom a tumor in the right renal hilum was unexpectedly discovered on imaging. Histological examination revealed a carcinoid tumor arising from a simple cyst composed of teratomatous tissue. Although the tumor was located in the renal hilum and touched the renal parenchyma, it appeared independent of the kidney and urinary tract. This report highlights the rare occurrence of teratomas with carcinoids and provides insights into their origins. [ABSTRACT FROM AUTHOR]

Surgery to expose the anterior occiptocervical junction (OCJ) is exacting, and optimal approaches are debatable. The close proximity of vital structures and difficult surgical access present a unique challenge to treat lesions in this area. Routine access to the upper anterior cervical spine remains limited. The authors present a modified retropharyngeal approach and instrumentation in order to resect an exceptionally rare atypical rhabdoid teratoid tumor involving the craniovertebral junction. The technical aspects of this approach in anatomical perspectives are discussed in this article. [ABSTRACT FROM AUTHOR]

Purpose: We evaluated the magnetic resonance imaging (MRI) features of ovarian teratomas with somatic-type malignancy (TSMs) and benign ovarian mature cystic teratomas (MCTs) to determine the diagnostic contribution of the MRI findings for differentiating these two teratomas. Methods: We compared the MRI findings between ovarian TSMs (n = 10) and MCTs (n = 193), and we conducted a receiver operating characteristic (ROC) analysis to determine the MRI findings' contribution to the differentiation of TSMs from MCTs. Results: The maximum diameters of whole lesion and the largest solid component in the TSMs were larger than those of the MCTs (p = 0.0001 and p < 0.0001, respectively). Fat tissue in solid components was seen in 73/116 (62.9%) MCTs but in none of the TSMs (p = 0.0001). Ring-like enhancement in solid components was seen in 60/116 (51.7%) MCTs and none of the TSMs (p = 0.0031). On dynamic contrast-enhanced MRI (DCE MRI), all of the solid components in the TSMs showed a high- or intermediate-risk time intensity curve (TIC), and those in 113 of the 116 (97.4%) MCTs showed a low-risk TIC (p < 0.0001). The area under the curve of the ROC analysis using the high-/intermediate-risk TIC on DCE MRI was the highest (0.99) for differentiating TSMs from MCTs: sensitivity 100%, specificity 97.4%, positive predictive value 75.0%, negative predictive value 100%, and accuracy, 97.6%. Conclusion: Compared to ovarian MCTs, ovarian TSMs are larger and have larger solid components with high- or intermediate-risk TICs on DCE MRI. Ovarian MCTs frequently show small solid components with fat tissue, ring-like enhancement, and a low-risk TIC on DCE MRI. [ABSTRACT FROM AUTHOR]

Introduction Sacrococcygeal teratomas (SCTs) are rare tumors occurring in approximately 1 in 35,000 to 40,000 live births. The Altman classification is used to describe SCTs. There are four types, with type 1 predominantly external through to type IV which is a presacral, completely internal mass. As far as the authors are aware, this is the first study to focus on type IV SCT lesions. Materials and Methods Using ICD-10- AM (The International Statistical Classification of Diseases and Related Health Problems, Tenth Revision, Australian Modification) codes, we identified all patients in the Republic of Ireland with a diagnosis of SCT from 2004 to 2020. The following information was obtained for each patient: gender, time of diagnosis, clinical presentation, method of diagnosis, Altman classification, biomarkers, age at operation, surgical technique, pathology, recurrence, and age at most recent follow-up. Results There were 29 patients in total; 23 females (79%) and 6 males (21%). In total, 16 (55%) were diagnosed antenatally, 4 (14%) at less than 1 month, 4 (14%) less than 1 year, 3 (10%) age 2 to 4 years, and 2 (7%) were aged 5 to 12 years. In addition, 22 (76%) were mature teratomas, 2 (7%) immature teratomas, and 5 (17%) were malignant tumors. There were 6 (21%) type I lesions, 9 (30%) type II, 6 (21%) type III, and 8 (28%) type IV lesions. Conclusion In Altman's original 1974 study, type IV lesions were present in 10% of cases. As a result, this is the most frequently quoted figure. Type IV lesions were present in 28% of cases in our study. We propose that type IV lesions may be more common than the current literature suggests and consequently a higher index of suspicion of their presence should be entertained. [ABSTRACT FROM AUTHOR]

The malignant transformation of mature cystic teratomas during pregnancy is a rare occurrence in medical literature. In this case report, we present a remarkable instance of mucinous intestinal adenocarcinoma arising from a mature ovarian cystic teratoma diagnosed during pregnancy. This is among the few reports detailing the effective use of the FOLFOX 6 chemotherapy regimen for treating this type of intestinal cancer. Furthermore, we emphasize the immunohistochemical results that confirm the colorectal histological origin. [ABSTRACT FROM AUTHOR]

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Pediatric intracranial germ cell tumors (GCT) are clinically rare but highly heterogeneous tumors, primarily occurring in children and adolescents. The treatment method depends on the tumor type. Pure germinoma can be cured with radiotherapy and chemotherapy, while mature teratomas can be cured with surgical resection. Non-germinomatous germ cell tumors (NGGCT) require comprehensive treatment. Current domestic and international guidelines or expert consensus recommend initial chemotherapy, followed by surgical resection for those not achieving complete remission. However, clinical practice has found that surgery risks increase after chemotherapy, leading some experts to advocate for direct surgery. Beijing Tiantan Hospital, Capital Medical University proposed a clinical diagnosis and treatment strategy for pediatric intracranial NGGCT (2023 Tiantan version), recommending joint evaluation by neurosurgeons and oncologists for individualized treatment to provide better treatment plans for children. [ABSTRACT FROM AUTHOR]

Recently, DNA methylation clocks have been proven to be precise age predictors, and the application of these clocks in cancer tissue has revealed a global age acceleration in a majority of cancer subtypes when compared to normal tissue from the same individual. The polycomb repressor complex 2 plays a pivotal role in the aging process, and its targets have been shown to be enriched in CpG sites that gain methylation with age. This complex is further regulated by the chromatin remodeling complex SWItch/Sucrose Non-Fermentable and its core subunit, notably the tumor suppressor gene SMARCB1, which under physiological conditions inhibits the activity of the polycomb repressor complex 2. Hence, the loss of function of core members of the SWItch/sucrose non-fermentable complex, such as the tumor suppressor gene SMARCB1, results in increased activity of polycomb repressor complex 2 and interferes with the aging process. SMARCB1-deficient neoplasms represent a family of rare tumors, including amongst others malignant rhabdoid tumors, atypical teratoid and rhabdoid tumors, and epithelioid sarcomas. As aging pathways have recently been proposed as therapeutic targets for various cancer types, these tumors represent candidates for testing such treatments. Here, by deriving epigenetic age scores from more than 1000 tumor samples, we identified epigenetic age acceleration as a hallmark feature of epithelioid sarcoma. This observation highlights the potential of targeting aging pathways as an innovative treatment approach for patients with epithelioid sarcoma. [ABSTRACT FROM AUTHOR]

Background: Teratomas are germ cell tumors derived from totipotent cells, with presentation outside the gonads being rare, and adrenal location being even rarer. Prenatally detected adrenal teratomas are extremely uncommon. Case report: We report a rare case of a 5-month-old girl with a prenatally detected left suprarenal mass, which was initially suspected to be a congenital neuroblastoma. Abdominal computed tomography showed a cystic lesion measuring 7.9 x 8.8 × 11.5 cm in the left suprarenal region compatible with adrenal teratoma. The infant underwent laparotomy with excision of the lesion. The histopathological diagnosis was cystic immature teratoma. Conclusion: Although adrenal teratoma is extremely rare, it should be included in the clinical and radiologic differential diagnosis of prenatally detected suprarenal masses.

Background: Primary retroperitoneal teratoma of infancy is rare, comprising only 3.5%–4% of all germ cell tumors. The presentation may range from an asymptomatic mass to an abdominal lump causing symptoms due to mass effect on the neighbouring organs. We present a young infant with an abdominal mass who posed a diagnostic challenge. Clinical Description: A 3monthold female infant with an uneventful antenatal and perinatal history presented with complaints of abdominal distension since 1½ months of age. A lump was palpable involving the entire right side of the abdomen, crossing the midline. Management and Outcome: Despite detailed radiological imaging and trucut biopsy, the diagnosis was unclear. A complete open laparoscopic excision of the mass followed by a biopsy confirmed the diagnosis of grade 2/3 immature teratoma. Serum alphafetoprotein levels and betahuman chorionic gonadotropin levels were normal. Chemotherapy was not administered. The patient has been on followup for the past 2½ years, doing well without any complaints. Conclusion: Early recognition and complete excision of primary retroperitoneal teratoma with mature or partly immature histopathology carries a good prognosis.

Aims: This study aims to review our experience of treating ovarian masses in children with an emphasis on clinical presentation, diagnosis, treatment, and outcome. Methods: We retrospectively reviewed the electronic medical records of all patients below 18 years of age who underwent surgical treatment for ovarian masses at our institute between 2009 and 2023. Study variables included demography, clinical presentation, physical findings, tumor markers, radiologic features, operative details, histopathology, follow-up status, and overall survival. Results: During the study period, 30 patients with a mean age of 10.07 years (range: 15 days–18 years) underwent surgical treatment for ovarian masses. Nonneoplastic ovarian masses were seen in 5 (16.7%) patients, whereas 25 (83.3%) patients had benign (10 [33.3%], borderline 3 [10%], or malignant 12 [40%]) ovarian neoplasms. The most common clinical presentation in the benign group was abdominal pain (n = 6), whereas painless abdominal mass (n = 6) was the predominant complaint in children with malignant tumors. A functional ovarian mass presenting with precocious puberty or virilization was seen in 5 (16.7%) patients. On imaging, nonneoplastic and benign lesions had a mean size of 4.33 (range: 3.1–6) cm and 12.63 (range: 2.8–28) cm, respectively, whereas borderline and malignant masses had a mean tumor size of 22.5 (range: 6.5–32) cm and 12.55 (range: 3.5–18.7) cm, respectively (P < 0.05). The cystic component was identified in all nonneoplastic and benign tumors, whereas the solid component was present in all borderline and malignant lesions (P < 0.05). Tumor markers such as serum alpha-fetoprotein and beta-human chorionic gonadotropin were raised in 8 (66.67%) of malignant tumors, whereas markers were normal in all benign lesions and borderline malignant lesions and 4 (33.33%) of malignant tumors. Lactate dehydrogenase (LDH) was also raised in all malignant masses (n = 12), whereas it was normal in all benign and borderline malignant masses (n = 18). In 6 (20%) patients with nonneoplastic and benign masses with maximum tumor size

Abstract There is an unmet need for a more accurate molecular imaging radiotracer in the field of non-seminomatous germ cell tumors (NSGCT). The clinical problem is that no single imaging modality is able to differentiate teratoma from necrotic tissue in NSGCTs, which the nuclear medicine techniques are no exception. The exponential growth in the list of potentially promising radiotracers may hold promise in the future for imaging of NSGCTs. Here, we have reviewed the past efforts and potential future advances in this field.

Fetus in fetu (FIF) is a rare abnormality where a vertebrate parasitic fetus develops inside the body of another normally developing fetus. It is distinct from teratomas, tumors composed of cells from multiple germ layers and have malignant potential. Symptoms of FIF arise from the mass effect, causing abdominal distension, feeding difficulties, and pressure effects on organs. FIF is commonly found in the retroperitoneal region but can also occur in other locations. It often includes certain organs such as the vertebral column, limbs, central nervous system, gastrointestinal tract, vessels, and genitourinary tract. Early diagnosis of FIF by ultrasound, computed tomography, and magnetic resonance imaging can improve patient outcomes. Surgical resection is the primary treatment approach, aiming to alleviate symptoms, and molecular analysis helps differentiate FIF from malignant teratomas. Regular follow-up is necessary due to the potential recurrence of teratomas.

Abstract Ectopic thyroid tissue along the line of descent of thyroid from foramen caecum along thyroglossal duct to the normal anatomic location in neck has been reported. Ectopic thyroid tissue in adrenal gland (ETTAG) is rarely encountered and very few cases have been reported in literature. The most common differential diagnosis to be considered when thyroid follicles are noted in adrenal gland are metastasis from a thyroid malignancy or a teratoma or an ectopic thyroid tissue in adrenal gland. We present a case of an adrenal incidentaloma in a young pregnant female which was diagnosed to be ectopic thyroid tissue in adrenal gland. The review of literature of similar cases of this rare embryological aberrance is discussed. To our knowledge, only 16 such cases have been documented in literature and our case is the first one from Indian subcontinent and the largest documented with respect to size.

Mature mediastinal teratoma is a rare benign tumor in children. Few cases have been reported in the literature. Moreover, this tumor is often characterized by slow growth, reaching a large volume and frequently causing nonspecific symptoms, making its diagnosis more difficult. It raises the question of differential diagnosis with malignant mediastinal tumors in pediatric patients, requiring histological confirmation by biopsy or excision. The purpose of this article is to report an atypical clinical finding characterized by spinal deformity, and to contribute to medical knowledge concerning this uncommon pediatric tumor.

Fetal intracranial teratoma presents a rare and devastating diagnosis. Typically, this condition is first detected during routine prenatal ultrasounds, appearing as an irregular heterogeneous lesion. Further insights are gained through fetal magnetic resonance imaging (MRI), better characterizing the anomaly. The combination of these modalities provides detail-oriented high resolution MRI images, while follow-up ultrasounds capture dynamic growth changes, serving as a cost-effective and easily accessible adjunct. This fast-growing tumor leads to macrocephaly and ventriculomegaly, causing severe distortion of the brain parenchyma. Early detection is crucial for effective fetal management and preventing maternal complications. Unfortunately, treatment options are limited due to the tumor's aggressive nature, typically resulting in fetal demise shortly after birth. Here, we present the sonographic and MRI findings of a congenital intracranial teratoma, reaching massive proportions and replacing the entire cerebral hemisphere.