Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors

SDHA SDHD公司 SDHB系统 主旨 生物 副神经节瘤 癌症研究 病理 种系突变 琥珀酸脱氢酶 突变 医学 间质细胞 遗传学 基因 线粒体
作者
Trisha Dwight,Diana E. Benn,Adele Clarkson,Ricardo E. Vilain,Lara Lipton,Bruce G. Robinson,Roderick Clifton‐Bligh,Anthony J. Gill
出处
期刊:The American Journal of Surgical Pathology [Ovid Technologies (Wolters Kluwer)]
卷期号:37 (2): 226-233 被引量:116
标识
DOI:10.1097/pas.0b013e3182671155
摘要

Succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GISTs) are a unique class of GIST defined by negative immunohistochemical staining for succinate dehydrogenase B (SDHB). SDH-deficient GISTs show distinctive clinical and pathologic features including absence of KIT and PDGFRA mutations, exclusive gastric location, common lymph node metastasis, a prognosis not predicted by size and mitotic rate, and indolent behavior of metastases. They may be syndromal with some being associated with the Carney Triad or germline SDHA, SDHB, SDHC, or SDHD mutations (Carney-Stratakis syndrome). It is normally recommended that genetic testing for SDHA, SDHB, SDHC, and SDHD be offered whenever an SDH-deficient GIST is encountered. However, testing for all 4 genes is burdensome and beyond the means of most centers. In this study we performed SDHA mutation and immunohistochemical analyses for SDHA on 10 SDH-deficient GISTs. Three showed negative staining for SDHA, and all of these were associated with germline SDHA mutations. In 2 tumors, 3 novel mutations were identified (p.Gln54X, p.Thr267Met, and c.1663+3G>C), none of which have previously been reported in GISTs or other SDH-associated tumors. Seven showed positive staining for SDHA and were not associated with SDHA mutation. In conclusion, 30% of SDH-deficient GISTs in this study were associated with germline SDHA mutation. Negative staining for SDHA can be used to triage formal genetic testing for SDHA when an SDH-deficient GIST is encountered.
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