Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients

Gill AJ, Hes O, Papathomas T, Sedivcova M, Tan PH, Agaimy A, Andresen PA, Kedziora A, Clarkson A, Toon CW, Sioson L, Watson N, Chou A, Paik J, Clifton-Bligh RJ, Robinson BG, Benn DE, Hills K, Maclean F, Niemeijer ND, Vlatkovic L, Hartmann A, Corssmit EPM, Van Leenders GJLH, Przybycin C, Mckenney JK, Magi-Galluzzi C, Yilmaz A, Yu D, Nicoll KD, Yong JL, Sibony M, Yakirevich E, Fleming S, Chow CW, Miettinen M, Michal M, Trpkov K (2014)

Publication Type: Journal article

Publication year: 2014

Journal

Book Volume: 38

Pages Range: 1588-602

Journal Issue: 12

DOI: 10.1097/PAS.0000000000000292

Abstract

Succinate dehydrogenase (SDH)-deficient renal carcinoma has been accepted as a provisional entity in the 2013 International Society of Urological Pathology Vancouver Classification. To further define its morphologic and clinical features, we studied a multi-institutional cohort of 36 SDH-deficient renal carcinomas from 27 patients, including 21 previously unreported cases. We estimate that 0.05% to 0.2% of all renal carcinomas are SDH deficient. Mean patient age at presentation was 37 years (range, 14 to 76 y), with a slight male predominance (M:F=1.7:1). Bilateral tumors were observed in 26% of patients. Thirty-four (94%) tumors demonstrated the previously reported morphology at least focally, which included: solid or focally cystic growth, uniform cytology with eosinophilic flocculent cytoplasm, intracytoplasmic vacuolations and inclusions, and round to oval low-grade nuclei. All 17 patients who underwent genetic testing for mutation in the SDH subunits demonstrated germline mutations (16 in SDHB and 1 in SDHC). Nine of 27 (33%) patients developed metastatic disease, 2 of them after prolonged follow-up (5.5 and 30 y). Seven of 10 patients (70%) with high-grade nuclei metastasized as did all 4 patients with coagulative necrosis. Two of 17 (12%) patients with low-grade nuclei metastasized, and both had unbiopsied contralateral tumors, which may have been the origin of the metastatic disease. In conclusion, SDH-deficient renal carcinoma is a rare and unique type of renal carcinoma, exhibiting stereotypical morphologic features in the great majority of cases and showing a strong relationship with SDH germline mutation. Although this tumor may undergo dedifferentiation and metastasize, sometimes after a prolonged delay, metastatic disease is rare in the absence of high-grade nuclear atypia or coagulative necrosis.

Authors with CRIS profile

Involved external institutions

Royal North Shore Hospital (RNSH) Australia (AU) Erasmus University Medical Center (MC) Netherlands (NL) Charles University Hospital Pilsen Czech Republic (CZ) Singapore General Hospital Singapore (SG) Oslo University Hospital / Oslo Universitetssykehus Rikshospitalet Norway (NO) Gold Coast University Hospital (GCUH) Australia (AU) Douglass Hanly Moir (DHM) Pathology Australia (AU) Leiden University Netherlands (NL) Cleveland Clinic United States (USA) (US) Calgary Laboratory Services (CLS) Canada (CA) Sydney South West Pathology Service (SSWPS) Australia (AU) University of Paris 5 - René Descartes / Université Paris V René Descartes France (FR) Brown University United States (USA) (US) University of Dundee United Kingdom (GB) Royal Children's Hospital Parkville Australia (AU) National Cancer Institute (NCI) United States (USA) (US)

How to cite

APA:

Gill, A.J., Hes, O., Papathomas, T., Sedivcova, M., Tan, P.H., Agaimy, A.,... Trpkov, K. (2014). Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. American Journal of Surgical Pathology, 38(12), 1588-602. https://dx.doi.org/10.1097/PAS.0000000000000292

MLA:

Gill, Anthony J., et al. "Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients." American Journal of Surgical Pathology 38.12 (2014): 1588-602.

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