High-resolution melting amplicon analysis as a method to detect c-kit and platelet-derived growth factor receptor α activating mutations in gastrointestinal stromal tumors

摘要: High-resolution melting amplicon analysis (HRMAA) was used to detect c- kit and platelet-derived growth factor receptor α ( PDGFRA ) activating mutations in 96 gastrointestinal stromal tumors (GISTs). HRMAA detected 87 GISTs (91%). Of the cases, 69 (79%) contained 18 (21%), mutations. One mutation–positive case an exon 9 mutation, ins FY at codon 503, that has not been previously described. mutation D842V del 843, also 3 (17%) were strongly positive for expression as measured by CD117 immunohistochemical analysis. 66 (96%) showed strong expression, but (4%) negative weak expression. (9%) wild type c-kit PDGFRA. wild-type 8 still whereas 1 expression. GISTs with found stomach, omentum, peritoneum small intestine. primarily intestine. HRMAA is a sensitive technique can be rapidly identify GISTs.