Predominance of triple wild-type and IGF2R mutations in mucosal melanomas.

ABSTRACT:

Background

Primary mucosal melanoma (MM) is a rare subtype of melanoma that arises from melanocytes in the mucosa. MM has not been well profiled for mutations and its etiology is not well understood, rendering current treatment strategies unsuccessful. Hence, we investigated mutational landscape for MM to understand its etiology and to clarify mutations that are potentially relevant for MM treatment.

Methods

Forty one MM and 48 cutaneous melanoma (CM) tissues were profiled for mutations using targeted deep next-generation sequencing (NGS) for 89 cancer-related genes. A total of 997 mutations within exons were analyzed for their mutational spectrum and prevalence of mutation, and 685 non-synonymous variants were investigated to identify mutations in individual genes and pathw

SUBMITTER: Iida Y 

PROVIDER: S-EPMC6206730 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature