Telomere Maintenance Associated Mutations in the Genetic Landscape of Gynecological Mucosal Melanoma.

ABSTRACT:

Purpose

Gynecological melanomas (GMs) are rare tumors with a poor prognosis. Here, we performed exome sequencing to generate the mutational landscape of GMs.

Methods

Next-generation sequencing was carried out on mucosal melanoma samples (n = 35) obtained from gynecological sites. The alternative telomere lengthening (ALT) phenotype was verified by fluorescence in situ hybridization and the C-circle assay. Immunohistochemistry was performed to detect ATRX protein. Copy number variations in TERT were detected by droplet digital polymerase chain reaction.

Results

In the 58 formalin-fixed paraffin-embedded samples, we identified 33 (56.9%) ALT-positive cases, with 23 showing loss of ATRX protein. TERT promoter mutation was not detected in GMs (

SUBMITTER: Yuan G 

PROVIDER: S-EPMC7492295 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature