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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F24%3A10487604" target="_blank" >RIV/00669806:_____/24:10487604 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11140/24:10487604

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=vFQTLGnr6J" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=vFQTLGnr6J</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00428-024-03978-3" target="_blank" >10.1007/s00428-024-03978-3</a>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30109 - Pathology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Virchows Archiv

ISSN

0945-6317

e-ISSN

1432-2307

Volume of the periodical

485

Issue of the periodical within the volume

6

Country of publishing house

DE - GERMANY

Number of pages

7

Pages from-to

1167-1173

UT code for WoS article

001358612100001

EID of the result in the Scopus database

2-s2.0-85209550359