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Succinate Dehydrogenase-deficient Tumors: Diagnostic Advances and Clinical Implications

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

Advances in Anatomic Pathology: July 2012 - Volume 19 - Issue 4 - p 193–203
doi: 10.1097/PAP.0b013e31825c6bc6
Review Articles

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

The authors have no funding or conflicts of interest to disclose.

Reprints: Jason L. Hornick, MD, PhD, Department of Pathology, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115 (e-mail: jhornick@partners.org).

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.