Objective To investigate the clinical and pathological characteristics of succinate dehydrogenase (SDH) deficient gastrointestinal stromal tumors (GIST). Method: A retrospective analysis was conducted on the clinical and pathological data of 12 patients with SDH deficient GIST at the First People's Hospital of Tianmen City, Hubei Province from June 2010 to January 2016; Immunohistochemical method was used to detect SDH subunit B (SDHB), CD117, DOG-1, CD34, Desmin, smooth muscle actin (SMA), and S-100. Gene detection of c-kit exons 9, 11, 13, 17, and platelet derived growth factor receptor was performed α (PDGFR α） Exons 12 and 18, and review relevant literature. Results Nodular or lobulated tumors were more common, with a diameter of 3-7 cm; The tumor cells are mainly epithelioid, with 6 cases showing intravascular tumor thrombi. 12 cases of c-kit and PDGFRA were all wild-type in gene testing, while 12 cases of immunohistochemistry showed negative SDHB, positive expression of CD117, DOG-1, and CD34, and negative expression of SMA, desmin, and S-100 proteins. Conclusion: Combining the pathological characteristics of tumors, immunohistochemistry of SDHB protein, c-kit, and gene detection of PDGFRA can diagnose SDH deficient GIST. The biological behavior of such tumors is inert, and molecular targeted therapy has little benefit.
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