| [ Summary ] |
Representative gene alterations in gastrointestinal submucosal tumors (SMTs) include c-kit and PDGFRA gene mutations in gastrointestinal stromal tumors (GISTs), which account for approximately 80 % of clinically relevant SMTs. The former is observed in 80-85 % and the latter in approximately 10 % of all GISTs. A minor proportion of GISTs have SDH gene complex abnormalities and NF1 and BRAF gene mutations. These gene alterations in GISTs are mutually exclusive. Smooth muscle tumors do not show particular causative gene abnormalities. Schwannomas frequently have biallelic inactivation of the NF2 gene. Desmoids, solitary fibrous tumors, inflammatory myofibroblastic tumors, inflammatory fibroid polyps, and PEComas, which are rare types of SMTs, often have unique gene abnormalities. |