Journal article

Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology

Anthony J Gill, Nicholas S Pachter, Angela Chou, Barbara Young, Adele Clarkson, Katherine M Tucker, Ingrid M Winship, Peter Earls, Diana E Benn, Bruce G Robinson, Stewart Fleming, Roderick J Clifton-Bligh

The American Journal of Surgical Pathology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2011

Abstract

Germline succinate dehydrogenase B (SDHB) mutation causes pheochromocytoma/paraganglioma syndrome type 4 (PGL4). PGL4 is characterized by pheochromocytoma and paraganglioma, type 2 (SDHB negative) gastrointestinal stromal tumors and renal tumors, which are usually classified as carcinoma. We report 4 kindreds with 5 PGL4-associated renal tumors. Four of the tumors occurred before the age of 30 years, 4 were in the left kidney, 3 were in female patients, and 4 demonstrated consistent but previously unrecognized morphology. The tumors were composed of cuboidal cells with bubbly eosinophilic cytoplasm and indistinct cell borders. Many of the cells displayed distinctive cytoplasmic inclusions, w..

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