Publications by authors named "Z Sapi"
Article Synopsis
- Succinate dehydrogenase-deficient renal cell carcinoma (SDH-deficient RCC) is a rare and aggressive subtype of kidney cancer mostly seen in younger patients, marked by mutations in SDHx genes, especially type B.
- The tumors have unique histological characteristics, including eosinophilic cells in solid nests or microcysts that can trap normal kidney tubules.
- In a study of three cases, all tumors showed a lack of SDHB expression and had pathogenic mutations, with two cases confirming the hereditary nature; diagnostic and treatment challenges arise due to overlapping features with other renal tumors.
Purpose: Medullary thyroid carcinoma (MTC) in MEN2B syndrome is associated with germline mutation. Patients harboring de novo mutations are usually diagnosed at more advanced disease stages. We present a young woman with Met918Th mutation diagnosed with stage IV MTC at age 10 years.
View Article and Find Full Text PDFIntroduction: Dedifferentiated liposarcoma (DDLPS) is a common form of liposarcoma with challenging treatment modalities. Pan-TRK immunopositivity can be often observed without NTRK gene fusion in soft tissue sarcomas with myogenic differentiation. Expression and the role of NTRK in DDLPS are under-studied.
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