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

Journal article


Publication Details

Author(s): 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
Journal: American Journal of Surgical Pathology
Publication year: 2014
Volume: 38
Journal issue: 12
Pages range: 1588-602
ISSN: 0147-5185


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.



FAU Authors / FAU Editors

Hartmann, Arndt Prof. Dr. med.
Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie


External institutions
Brown University
Calgary Laboratory Services (CLS)
Charles University Hospital Pilsen
Cleveland Clinic
Douglass Hanly Moir (DHM) Pathology
Erasmus University Medical Center
Gold Coast University Hospital (GCUH)
Leiden University
National Cancer Institute (NCI)
Oslo University Hospital / Oslo Universitetssykehus
Royal Children's Hospital Parkville
Royal North Shore Hospital (RNSH)
Singapore General Hospital
Sydney South West Pathology Service (SSWPS)
University of Dundee
University of Paris 5 - René Descartes / Université Paris V René Descartes


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.

BibTeX: 

Last updated on 2018-09-10 at 07:21