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Morphological diversity in SDH-deficient renal carcinomas: a three-case exploration of variant features and dedifferentiation

F. Sánta, A. Dabaghian, B. Pósfai, B. Vasas, L. Kaizer, A. Jenei, B. Scheich, V. Téglási, Z. Sápi, K. Bíró, A. Maráz, M. Stelios, H. Butz, P. Martínek, K. Pivovarčíková, Z. Melegh, M. Akgul, L. Kuthi

. 2024 ; 485 (6) : 1167-1173. [pub] 20241120

Jazyk angličtina Země Německo

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc25003149

Grantová podpora
5S340A202 Szent-Györgyi Albert Orvostudományi Kar, Szegedi Tudományegyetem
ÚNKP-23-2-SZTE-366 Magyarország Kormánya

E-zdroje Online Plný text

NLK ProQuest Central od 2003-01-01 do Před 1 rokem
Medline Complete (EBSCOhost) od 2011-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest) od 2003-01-01 do Před 1 rokem
Health & Medicine (ProQuest) od 2003-01-01 do Před 1 rokem

Odkazy

PubMed 39562336
DOI 10.1007/s00428-024-03978-3
Knihovny.cz E-zdroje

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.

Citace poskytuje Crossref.org

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