Molecular characterization of gallbladder cancer using somatic mutation profiling.

摘要: Gallbladder cancer is relatively uncommon, with a high incidence in certain geographic locations, including Latin America, East and South Asia, Eastern Europe. Molecular characterization of this disease has been limited, targeted therapy options for advanced remain an open area investigation. In the present study, surgical pathology obtained from resected gallbladder cases (n = 72) was examined presence targetable, somatic mutations. All were formalin fixed paraffin embedded (FFPE). Two approaches used: (a) mass spectroscopy-based profiling 159 point ("hot spot") mutations 33 genes commonly involved solid tumors (b) next-generation sequencing (NGS) platform that complete coding sequence 182 cancer-related genes. Fifty-seven analyzed hot spot mutations; 15, NGS. Fourteen identified 9 cases. Of these, KRAS mutation significantly associated poor survival on multivariate analysis. Other targetable included PIK3CA 2) ALK 1). On NGS, 26 noted 15 TP53 PI3 kinase pathway (STK11, RICTOR, TSC2) common. One case had FGF10 amplification, whereas another FGF3-TACC gene fusion, not previously described cancer. conclusion, using archival FFPE samples feasible. particular, may be useful identifying novel therapy.