Succinate Dehydrogenase-deficient Tumors: Diagnostic Advances and Clinical Implications

被引：59

作者：

Barletta, Justine A. ^{[1
]}

Hornick, Jason L. ^{[1
]}

机构：

[1] Harvard Univ, Brigham & Womens Hosp, Dept Pathol, Sch Med, Boston, MA 02115 USA

来源：

ADVANCES IN ANATOMIC PATHOLOGY | 2012年 / 19卷 / 04期

关键词：

succinate dehydrogenase; paraganglioma; pheochromocytoma; gastrointestinal stromal tumor; Carney-Stratakis syndrome; GASTROINTESTINAL STROMAL TUMORS; CARNEY-STRATAKIS-SYNDROME; OF-FUNCTION MUTATIONS; GERM-LINE MUTATIONS; COMPLEX-II GENE; SDHB MUTATION; EXTRAADRENAL PARAGANGLIOMA; FAMILIAL PARAGANGLIOMA; MOLECULAR-GENETICS; YOUNG-ADULTS;

D O I：

10.1097/PAP.0b013e31825c6bc6

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：193 / 203

页数：11

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