Succinate dehydrogenase-deficient tumors: diagnostic advances and clinical implications.
Just over 10 years ago, germline mutations in SDHD, a gene that encodes 1 of the 4 proteins of the succinate dehydrogenase (SDH) complex, were reported in a subset of patients with hereditary paraganglioma-pheochromocytoma syndrome. Since that time, rapid discoveries have been made in this area. It is now recognized that all of the SDH genes are involved in the tumorigenesis of not only paragangliomas/pheochromocytomas, but also other tumor types, most notably gastrointestinal stromal tumors. This review will outline the genetics of SDH-deficient tumors, discuss possible mechanisms of tumorigenesis, and describe how these tumors can be identified by immunohistochemistry.
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Justine A
JA
Barletta
Jason L
JL
Hornick
D000008:Abdominal Neoplasms / Q000235:genetics; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000235:genetics; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013899:Thoracic Neoplasms / Q000235:genetics
D013385:Succinate Dehydrogenase