Analysis of mutation and loss of heterozygosity by whole-exome sequencing yields insights into pseudomyxoma peritonei

Pseudomyxoma peritonei is a clinical syndrome characterized by gross mucinous ascites originating from a disseminated intraperitoneal neoplasm. Although typically confined to the abdomen, mortality is high if untreated. Biomarkers, including genetic mutation profiles, may aid treatment selection and decision making. We applied whole-exome sequencing to five patients diagnosed with low grade appendiceal mucinous neoplasms, utilizing paired tumor and germline samples identify biomarkers. Multiple bioinformatic approaches were applied to these data to assess both somatic mutation profiles and loss of heterozygosity events.

Source: Journal of Molecular Diagnostics - June 21, 2018 Category: Pathology Authors: Reuben J. Pengelly, Babatunde Rowaiye, Karen Pickard, Brendan Moran, Sanjeev Dayal, William Tapper, Alex Mirnezami, Tom Cecil, Faheez Mohamed, Norman Carr, Sarah Ennis Tags: Regular Article Source Type: research