For the first time, rare germinal variants in the BRCA2, RAD51D, FANGC, CYP24A1 genes were detected in a small Buryat ethnic group. Our data are consistent with existing data showing that variants in the RAD51D gene may be involved in the pathogenesis of breast/ovarian cancer. We also showed that the Mongolic-speaking Buryat populations exhibited strong genetic resemblance to those of Chinese.
14 days ago
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51D (RAD51 paralog D) • FANCG (FA Complementation Group G) • FOXL2 (Forkhead Box L2)
These results demonstrate that tgfb2b plays a significant role in ovarian differentiation and development. Further functional and molecular studies on the interplay between tgfb2b and the foxl2-cyp19a-esr axis will help elucidate the regulatory network underlying sex development in teleost.
27 days ago
Journal
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TGFB1 (Transforming Growth Factor Beta 1) • FOXL2 (Forkhead Box L2) • JUN (Jun proto-oncogene) • SMAD2 (SMAD Family Member 2)
Surgical resection is the mainstay of treatment in most cases. Consequently, we recommend that all patients with primary extra-ovarian granulosa cell tumors enter a protocol of long-term surveillance, including periodic imaging and hormonal marker assessment.
This Phase II clinical trial of a rare tumour achieved its enrolment target in under 1 year and completed primary analysis within 2 years. 87% (46 of 53 patients who received nirogacestat) had fresh or archival biopsies that were analysed by next-generation sequencing for mutational profiling. Of the 3 patients with activating NOTCH1 mutations, all achieved 6-month progression-free survival (PFS6); 8 other patients also achieved PFS6 but did not share a common mutation.
Transcriptomic analysis revealed no significant correlation between ovarian GLI1 fusion tumors and sclerosing stromal tumors. These findings underscore the necessity of molecular testing for GLI1 rearrangements in SCST-like ovarian tumors to ensure accurate diagnosis and appropriate clinical management.
2 months ago
Journal
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GLI1 (GLI Family Zinc Finger 1) • MME (Membrane Metalloendopeptidase) • FOXL2 (Forkhead Box L2) • FUBP1 (Far Upstream Element Binding Protein 1)
Second-line treatment with tislelizumab, nab-paclitaxel, carboplatin, and anlotinib led to temporary stabilization. Salvage chemotherapy with doxorubicin, ifosfamide, and dacarbazine failed, and the patient died two months later...Patients who undergo complete resection of metastatic lesions tend to achieve better outcomes, whereas responses to systemic therapy are generally poor. Early identification of high-risk features and consideration of retroperitoneal lymph node dissection may improve prognosis in selected patients.
This is the first study to clearly demonstrate its practical application of FOXL2 in the diagnosis of aGCTs. Application of the molecular analysis to a large aGCT cohort is crucial for understanding true characteristics and establishing novel treatment strategy of this disease.
Systematic adnexal evaluation during cesarean sections is essential for detecting occult ovarian neoplasms, emphasizing the importance of multidisciplinary collaboration and accessible intraoperative frozen section analysis, particularly in resource-limited settings.
These findings establish FGFR1 alterations as an alternative oncogenic driver in a subset of FOXL2-wildtype aGCTs. From a diagnostic standpoint, the absence of FOXL2 p.C134W mutation does not exclude the diagnosis of aGCT when the morphology and immunoprofile are characteristic.