Mutational signatures define immune and Wnt-associated subtypes of ampullary carcinoma.

ABSTRACT:

Background and objective

Ampullary carcinoma (AMPAC) taxonomy is based on morphology and immunohistochemistry. This classification lacks prognostic reliability and unique genetic associations. We applied an approach of integrative genomics characterising patients with AMPAC exploring molecular subtypes that may guide personalised treatments.

Design

We analysed the mutational landscapes of 170 patients with AMPAC. The discovery included 110 tumour/normal pairs and the validation comprised 60 patients. In a tumour subset, we interrogated the transcriptomes and DNA methylomes. Patients were stratified based on mutational signatures and associated with molecular and clinical features. To evaluate tumour and immune cellularity, 22 tumours were independently assessed histomorpholo

SUBMITTER: Zhuravleva E 

PROVIDER: S-EPMC12013699 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature