Skip Navigation LinksHome > July 2012 - Volume 19 - Issue 4 > Succinate Dehydrogenase-deficient Tumors: Diagnostic Advanc...
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Advances in Anatomic Pathology:
doi: 10.1097/PAP.0b013e31825c6bc6
Review Articles

Succinate Dehydrogenase-deficient Tumors: Diagnostic Advances and Clinical Implications

Barletta, Justine A. MD; Hornick, Jason L. MD, PhD

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Abstract

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.

© 2012 Lippincott Williams & Wilkins, Inc.

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