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Simple Summary: Sarcomas represent a group of rare tumors consisting of more than 100 different entities. A precise diagnosis is crucial to optimal treatment. In addition, a significant proportion of sarcomas are characterized by a specific genetic abnormality. This study was designed by the Hellenic Group of Sarcoma and Rare Cancers to assess the effect of expert pathology review, coupled with the application of molecular methods to detect genetic abnormalities, on the diagnosis and management of sarcoma patients in Greece. We found that histological diagnosis review by a sarcoma pathologist led to modifications in diagnosis in almost one-third of patients, resulting in modifications in management in 14% of patients. The use of molecular tests led to modifications in diagnosis in 26% of patients, resulting in modifications in management in almost 11% of patients. Our study highlights the importance of expert pathologists, assisted in some cases by molecular methods, in sarcoma diagnosis and treatment. Precise classification of sarcomas is crucial to optimal clinical management. In this prospective, multicenter, observational study within the Hellenic Group of Sarcoma and Rare Cancers (HGSRC), we assessed the effect of expert pathology review, coupled with the application of molecular diagnostics, on the diagnosis and management of sarcoma patients. Newly diagnosed sarcoma patients were addressed by their physicians to one of the two sarcoma pathologists of HGSRC for histopathological diagnostic assessment. RNA next-generation sequencing was performed on all samples using a platform targeting 86 sarcoma gene fusions. Additional molecular methods were performed in the opinion of the expert pathologist. Therefore, the expert pathologist provided a final diagnosis based on the histopathological findings and, when necessary, molecular tests. In total, 128 specimens from 122 patients were assessed. Among the 119 cases in which there was a preliminary diagnosis by a non-sarcoma pathologist, there were 37 modifications in diagnosis (31.1%) by the sarcoma pathologist, resulting in 17 (14.2%) modifications in management. Among the 110 cases in which molecular tests were performed, there were 29 modifications in diagnosis (26.4%) through the genomic results, resulting in 12 (10.9%) modifications in management. Our study confirms that expert pathology review is of utmost importance for optimal sarcoma diagnosis and management and should be assisted by molecular methods in selected cases. [ABSTRACT FROM AUTHOR]

Invasive lobular carcinoma (ILC) represents a rare subtype of breast carcinoma, originating from the lobule. Unlike ductal carcinoma, ILC does not express E-cadherin and thus can metastasize to uncommon sites. We aimed to investigate the clinicopathological characteristics of the rare subgroup of ILC patients with gastrointestinal (GI) metastases. A PubMed search was undertaken using the terms "Lobular Breast Carcinoma" AND "Gastrointestinal Metastasis." We identified 169 cases, with metachronous GI metastatic disease being approximately twice as common as synchronous GI metastases. The median age at initial diagnosis was 56.7 years (24-88). The majority of patients were hormonal receptor-positive and only a small minority was HER2-positive. The appearance of a gastrointestinal lesion was often the mode of revelation of ILC. Differential diagnosis from primary gastrointestinal cancer is sometimes challenging, especially in the case of signet-ring cell carcinoma. The median time from breast cancer diagnosis to GI metastases was 6.5 years (0-33). Most common metastatic sites include the stomach, colon, and rectum, in order of decreasing frequency, whereas metastases were found in every part of the digestive tract. In conclusion, metastases of ILC can arise in the gastrointestinal tract and they should be managed similarly to metastatic breast cancer., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Kioleoglou et al.)

Background/aim: Everolimus in combination with exemestane was shown to offer benefit versus exemestane monotherapy in hormone receptor (HR)-positive, HER2-negative advanced breast cancer patients who progressed after aromatase inhibitor (AI) therapy., Patients and Methods: The medical records of metastatic breast cancer patients, treated with everolimus, were retrospectively reviewed to generate real life safety and efficacy data., Results: Sixty-eight percent of the patients had received chemotherapy (for early or metastatic disease) and 26% had received chemotherapy for metastatic disease. Among the 25 included patients, the most common adverse events were fatigue, neutropenia, epistaxis, stomatitis, and pneumonitis. Toxicity led to treatment discontinuation in 3 patients (12%). The median progression-free survival (PFS) was 7 months (95%CI=3.5-10.5). With a median follow-up of 73.3 months, the median overall survival was not reached. Twenty-five percent of the patients had received prior therapy with CDK4/6 inhibitors. Median PFS was significantly shorter in this subgroup (p=0.025). There was also a trend towards a longer PFS in patients with grade 3 breast cancer (p=0.085) and in patients receiving everolimus as first-line treatment (p=0.081). Some long responses were noted, with four patients exhibiting a PFS >5 years., Conclusion: These real-life data show that everolimus in combination with AI in patients with HER2-negative, HR-positive advanced breast cancer is an effective treatment with an acceptable toxicity profile., (Copyright © 2024 International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

Purpose: Primary squamous cell carcinoma (SCC) of the ovary is rare. Most cases arise from a cystic teratoma or less frequently from Brenner tumor or endometriosis. We reviewed 36 cases of primary ovarian SCC reported in the literature including a case diagnosed and treated in our institution., Methods: Data was collected by using the key-words "primary squamous cell carcinoma" and "ovary" on Google Scholar and PubMed in April 2018. All reviewed cases were analyzed according to diagnosis, surgical approach, adjuvant therapy and outcome., Results: To date 23 articles presenting 36 cases of primary ovarian SCC are reported. Nine patients had stage I, 8 stage II, 11 stage III and 5 stage IV disease, whereas 3 patients had in situ carcinoma. All patients underwent surgery (mainly hysterectomy with bilateral salpingo-oophorectomy). Adjuvant therapy was reported in 24 patients, 15 of which received chemotherapy, 6 radiotherapy and 3 a combination of both. Chemotherapy regimens were similar to the ones used in ovarian carcinoma (more often platinum plus paclitaxel). Follow-up period was in general short and survival varied between 9 days and 14 years, depending on the stage at diagnosis., Conclusions: Primary ovarian SCC is a rare entity with poor prognosis, compared to serous carcinoma. Treatment is usually extrapolated from classical ovarian carcinoma algorithms, including surgical management combined with adjuvant chemotherapy with or without radiotherapy. Further investigations are needed to define optimal treatment, such as chemotherapy regimens and the role of radiotherapy and lymph node dissection.

Purpose: Ewing Sarcoma/Primitive Neuroectodermal Tumor (ES/PNET) is a malignant small round cell tumor belonging to the Ewing Sarcoma Family of Tumors. It occurs more commonly in children and young adults. Its localization in the adrenal gland is extremely rare. We reviewed 35 cases of ES/PNET of the adrenal gland reported in the literature and presented our case., Methods: Data were collected by searching for ES/PNET and adrenal gland key words on Google Scholar and PubMed in March 2018, including a case diagnosed in our department. We analyzed all reviewed cases for diagnosis, surgical and systemic therapy and outcome., Results: To date 24 articles presenting cases of ES/PNET of the adrenal gland are reported in the literature. We included in our review 35 cases previously described and one new case. Histologically all cases consisted of sheets of small round cells. Immunohistochemistry was also performed in all cases. Most cases stained positive for CD99 and negative for lymphocytic markers. Markers of epithelial differentiation displayed variable results. In all cases tested, characteristic translocations were displayed supporting the diagnosis. All patients but four were treated surgically and the majority received adjuvant therapy. Only very few cases received neoadjuvant chemotherapy., Conclusions: Primary ES/PNET of the adrenal gland is a rare tumor, showing specific morphological, immunohistochemical and cytogenetic characteristics. Treatment consists of surgery, chemotherapy and radiotherapy. Further investigations paired with long term follow-up are necessary to define prognosis for this rare entity.

Background/aim: During recent years, a survival advantage was reported for first-line treatment of advanced pancreatic cancer with two new regimens, FOLFIRINOX and gemcitabine/nab-paclitaxel, over gemcitabine monotherapy. Gemcitabine/nab-paclitaxel administration on days 1, 8 and 15 of a 4-week cycle is associated with some practical disadvantages. We adopted a biweekly regimen with the same dose density., Patients and Methods: Patients with Eastern Cooperative Oncology Group performance status 0-2 diagnosed with advanced histologically or cytologically confirmed pancreatic cancer and no prior treatment were included in the study. Study combination included 1.5 g/m 2 gemcitabine and 175 mg/m 2 nab-paclitaxel given every 2 weeks. Survival analysis was performed using the Kaplan-Meier method., Results: Forty-six patients were treated with this regimen. Adverse events were similar to those of the original regimen. Median progression-free and overall survival were 5 and 10 months, respectively., Conclusion: Biweekly gemcitabine/nab-paclitaxel seems to have a similar safety and efficacy profile as the original regimen., (Copyright© 2018, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)