Mutational landscape of gastrointestinal stromal tumors using next-generation sequencing of a 73-gene panel.

ABSTRACT:

Purpose

Mutational analysis guides therapeutic decision-making for patients with advanced-stage gastrointestinal stromal tumors (GISTs).

Materials and methods

A total of 491 patients with GISTs were retrospectively included, and their genomic profiles were determined by targeted NGS of 73 or 1,021 gene panels.

Results

KIT mutations were identified in 84.7% (416/491) of patients with GISTs, and PDGFRA mutations were identified in 4.5% (22/491) of patients. Among the patients with KIT mutant-GISTs, most had KIT mutations in exon 11 (81.3%, 338/416). PDGFRA mutations were located mainly in exon 18 (77.3%, 17/22). In the remaining 11% of patients with GISTs without KIT or PDGFRA mutations (wild-type GISTs), BRAF and NF1 were the most commonly mutated genes. Compared with

SUBMITTER: Wang C 

PROVIDER: S-EPMC12649021 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature