Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases.

ABSTRACT:

Background

Small bowel adenocarcinoma is a rare disease. The genomic profiling tumours according to clinical characteristics and its impact on the prognosis remains unclear.

Methods

A pooled analysis of clinical data, genomic profiling and MisMatch Repair (MMR) status from three databases was performed.

Results

A total of 188 tumour samples were analysed. A predisposing disease was reported in 22.3%, mainly Lynch syndrome and Crohn's disease. The tumours were localized in 80.2% and metastatic in 18.8%. The most frequent mutations were KRAS (42.0%) among them 7/79 are G12C, TP53 (40.4%), APC (19.1%), PIK3CA (18.6%), SMAD4 (12.8%) and ERBB2 (9.6%). Mutation distribution differed according to predisposing disease for TP53, ERBB2, IDH1, FGFR3, FGFR1 and KDR. KRAS and SMAD

SUBMITTER: Aparicio T 

PROVIDER: S-EPMC11231144 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature