Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

ABSTRACT:

Background

Mucinous neoplasms of the appendix (MNA) are rare tumors which may progress from benign to malignant disease with an aggressive biological behavior. MNA is often diagnosed after metastasis to the peritoneal surfaces resulting in mucinous carcinomatosis peritonei (MCP). Genetic alterations in MNA are poorly characterized due to its low incidence, the hypo-cellularity of MCPs, and a lack of relevant pre-clinical models. As such, application of targeted therapies to this disease is limited to those developed for colorectal cancer and not based on molecular rationale.

Methods

We sequenced the whole exomes of 10 MCPs of appendiceal origin to identify genome-wide somatic mutations and copy number aberrations and validated significant findings in 19 additional cases.

SUBMITTER: Alakus H 

PROVIDER: S-EPMC4062050 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature