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

Authors:
Nikolai Klebanov
Nikolai Klebanov
Tufts University
United States
William M Lin
William M Lin
Harvard Medical School
United States
Mykyta Artomov
Mykyta Artomov
Massachusetts Institute of Technology
United States
Michael Shaughnessy
Michael Shaughnessy
College of Veterinary Medicine
United States
Romi Bloom
Romi Bloom
University of Miami Miller School of Medicine
United States
Agda Karina Eterovic
Agda Karina Eterovic
The University of Texas MD Anderson Cancer Center
United States
Ken Chen
Ken Chen
The University of Texas MD Anderson Cancer Center
United States

JAMA Dermatol 2019 Feb;155(2):211-215

Department of Dermatology, Massachusetts General Hospital, Boston.

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 excluding variants that were presumed to be germline or of low mapping quality.

Main Outcomes And Measures: Identification of somatic mutations associated with cherry angiomas.

Results: In 10 cherry angioma tissue samples originating from 6 female and 4 male patients with a median (range) age of 54 (26-79) years, 5 samples (50%) revealed somatic missense mutations in GNAQ (Q209H, Q209R, and R183G) and GNA11 (Q209H). Individually, these mutational hot spots are known to be involved in entities that include congenital and anastomosing hemangiomas, hepatic small-vessel neoplasms (Q209), port-wine stains, and Sturge-Weber syndrome (R183). Both hot spots are associated with blue nevi, melanoma associated with blue nevus, and uveal melanoma.

Conclusions And Relevance: In this case series study, the high prevalence of 5 known genetic drivers within the benign cherry angioma entity appears to support the context-dependent role of gene alterations in both benign and malignant proliferations from various cellular origins.

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Source
http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamadermatol.2018.4231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440195PMC
February 2019
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