Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Adv Anat Pathol. 2012 Jul;19(4):193-203. doi: 10.1097/PAP.0b013e31825c6bc6.
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.
就在 10 多年前，在线粒体琥珀酸脱氢酶（SDH）复合物的 4 种蛋白之一的编码基因 SDHD 中发现了种系突变，该基因存在于一部分遗传性副神经节瘤-嗜铬细胞瘤综合征患者中。自那时以来，该领域取得了快速进展。现在已经认识到，所有 SDH 基因不仅参与了副神经节瘤/嗜铬细胞瘤的肿瘤发生，而且还参与了其他肿瘤类型的肿瘤发生，其中最显著的是胃肠道间质瘤。这篇综述将概述 SDH 缺陷型肿瘤的遗传学，讨论肿瘤发生的可能机制，并描述如何通过免疫组织化学方法来识别这些肿瘤。
