Distinct gene signatures define the epithelial cell features of mucinous appendiceal neoplasms and pseudomyxoma metastases.

ABSTRACT:

Introduction

Appendiceal mucinous neoplasms (AMN) are rare tumors of the gastrointestinal tract. They metastasize with widespread abdominal dissemination leading to pseudomyxoma peritonei (PMP), a disease with poor prognosis. There are many unknowns about the cellular features of origin, differentiation and progression of AMN and PMP.

Methods

We characterized AMNs, PMPs and matched normal tissues using single-cell RNA-sequencing. We validated our findings with immunohistochemistry, mass spectrometry on malignant ascites from PMP patients and gene expression data from an independent set of PMP tumors.

Results

We identified previously undescribed cellular features and heterogeneity in AMN and PMP tumors. There were gene expression signatures specific to the tumor epithe

SUBMITTER: Ayala C 

PROVIDER: S-EPMC11865047 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature