Abstract：Objective To investigate the gene mutation of c-kit and PDGFRa in gastrointestinal stromal tumors(GIST).Methods Immunohistochemistry, PCR amplification and sequencing were used to detect immunophenotypic characteristics and mutations of c-kit and PDGFRa genes of 79 cases of gastrointestinal stromal tumors which were documented in the Department of Pathology of our hospital between January 2005 and December 2017.Results In this study, most of the elderly patients with GIST ranged 65 to 75 in age. c-kit and/or PDGFRa gene mutations were detected in 77/79 cases, including c-kit mutation (70 cases, 88.6%), PDGFRa mutation (7 cases, 8.9%) and wild type (2 cases, 2.5%). Exon 11 mutation of c-kit genes was the most common (65/77, 82.3%).Conclusions Most of the aged patients with GIST typically carry c-kit and/or PDGFRa gene mutations, which provides molecular evidence for confirmation of the diagnosis and for targeted therapies.
王晓红,刘然. 老年人胃肠道间质瘤的c-kit和PDGFRa基因突变检测[J]. 武警医学, 2019, 30(3): 237-239.
WANG Xiaohong, LIU Ran. Detection of c-kit and PDGFRa gene mutation in gastrointestinal stromal tumors in elderly. Med. J. Chin. Peop. Armed Poli. Forc., 2019, 30(3): 237-239.
Mazur M T, Clark H B. Gastric stromal tumors: reappraisal of histogenesis [J]. Am J Surg Pathol, 1983, 7: 507-519.
[2]
Novelli M, Rossi S, Rodriguez J M, et al. DOG1 and CD117 are the antibodies of choice in the diagnosis of gastrointestinal stromal tumors [J]. Histopathology, 2010, 57(2): 259-270.
Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors[J]. Science, 1998,279(5350):577-580.
[5]
Heinrich M C, Corless C L, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors[J]. Science, 2003, 299(5607):708-710.
[6]
Miettinen M, Wang Z F, Laota J. DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases [J]. Am J Surg Pathol, 2009, 33(9):437-446.
[7]
Liegl B A, Fletcher J A, Fletcher C D. Gastrointestinal stromal tumors [J]. Vichows Arch 2010,456(2):111-137.
Makar R R, Waheeb S, John B, et al. Gastrointestinal stromal tumor: clinicopathological and inmmunohistochemical features [J]. Med Princ Pract, 2002, 11(1): 93-97.
Yamamoto H,Kojima A,Nagata S,et al.KIT-negative gastrointestinal stromal tumor of the abdominal soft tissue:a clinicopathologic and genetic study of 10 cases [J].Am J Surg Pathol,2011,35(9):1287-1295.
2019, Vol. 30 
