Open AccessSDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling
Author(s) -
Y Wilczek,
Ashwin Sachdeva,
H. M. Stanley Turner,
Rajan Veeratterapillay
Publication year - 2021
Publication title -
annals of the royal college of surgeons of england
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.39
H-Index - 63
eISSN - 1478-7083
pISSN - 0035-8843
DOI - 10.1308/rcsann.2020.0196
Subject(s) - sdhb , renal cell carcinoma , medicine , germline mutation , paraganglioma , sdhd , stromal cell , carcinoma , germline , pathology , genetic counseling , succinate dehydrogenase , pheochromocytoma , cancer research , mutation , bioinformatics , oncology , gene , biology , genetics , mitochondrion
Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) accounts for 0.05-2% of all RCCs. The majority of patients have germline mutations, most frequently in the SDHB gene. People with these mutations are predisposed to developing paragangliomas, phaeochromocytomas and gastrointestinal stromal tumours. Patients should be referred to genetic services for further workup and close surveillance imaging due to the risk of development of further tumours. We present a woman with SDH-deficient RCC and review the literature associated with this uncommon entity.