Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare subtype of renal neoplasm predominantly affecting younger individuals. It is characterized by germline mutations in SDHx genes, particularly type B. Histologically, SDH-deficient RCC features eosinophilic cytoplasmic cells forming solid nests or microcysts, sometimes entrapping normal tubules. We present three SDH-deficient RCC cases with overlapping morphological features with fumarate hydratase-deficient RCC and TFEB-rearranged RCC, an appearance that has not been previously described. All tumors lacked SDHB expression and harbored pathogenic SDHB mutations, with the germline nature confirmed in two cases. Metastasis developed in two patients. Our case set highlights the diagnostic challenges of molecularly defined renal tumors and expands the morphological spectrum of SDH-deficient RCC with unusual histological features. Clinically, these tumors appear to be aggressive.

• Klíčová slova
• RCC, Renal cell carcinoma, SDHB, Succinate dehydrogenase,
• MeSH
• dediferenciace buněk MeSH
• dospělí MeSH
• fumarasa nedostatek   genetika   MeSH
• karcinom z renálních buněk * genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery genetika   analýza   MeSH
• nádory ledvin * patologie   genetika   MeSH
• senioři MeSH
• sukcinátdehydrogenasa * nedostatek   genetika   MeSH
• transkripční faktory BHLH-Zip genetika   MeSH
• zárodečné mutace MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• fumarasa MeSH
• nádorové biomarkery MeSH
• SDHB protein, human MeSH Prohlížeč
• sukcinátdehydrogenasa * MeSH
• TFEB protein, human MeSH Prohlížeč
• transkripční faktory BHLH-Zip MeSH