Prognosis conferred by molecular features of appendix-derived Pseudomyxoma Peritonei.

ABSTRACT:

Introduction

Pseudomyxoma Peritonei (PMP) is an extremely rare disease characterized by progressive accumulation of mucinous ascites and implants in the peritoneum. We investigated the prognostic value for response to cytoreductive surgery (CRS) or hyperthermic intraperitoneal chemotherapy (HIPEC) and dissected potential beneficial targeted therapy utilizing genomic characteristics.

Methods

Whole-exome sequencing (WES) was performed on tissue specimens and matched white blood cells from 81 patients with PMP. The study investigated mutational signatures, profiling, and their correlation with progression-free survival (PFS) and overall survival (OS).

Results

Signature 3 (HRD) and signature 15 (dMMR) were dominant. NMF cluster 1, characterized by signature 4, exhibited a

SUBMITTER: Ma R 

PROVIDER: S-EPMC11867523 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature