Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.

ABSTRACT:

Importance

Shared gene variants in benign-malignant process pairs, such as BRAF mutations common to benign nevi and melanoma, are associated with differing phenotypic manifestations. Study of gene mechanisms underlying cherry angioma may uncover previously unknown disease relationships.

Objective

To identify somatic mutations present in cherry angioma specimens by using targeted next-generation sequencing.

Design, setting, and participants

In a single-center case series, 10 formalin-fixed, paraffin-embedded cherry angioma specimens from biopsies performed at Massachusetts General Hospital in Boston from July 10, 2016, to January 23, 2018, were obtained and underwent sequencing across a panel of 323 genes most relevant to cancer. Somatic mutations were curated by exclu

SUBMITTER: Klebanov N 

PROVIDER: S-EPMC6440195 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature