Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma

doi:10.1001/jamanetworkopen.2019.12416

Paper

Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma

Published Oct 1, 2019 · Nathan D. Seligson, Achal Awasthi, S. Millis

JAMA Network Open

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Abstract

Key Points Question Can next-generation sequencing reveal rationale for the dichotomous biological activity of epithelioid hemangioendothelioma (EHE) while illuminating potentially actionable alterations? Findings In a cross-sectional study of next-generation sequencing results collected from 49 participants diagnosed with EHE, more than half of patients with EHE profiled exhibited pathogenic genomic variants in addition to the WWTR1-CAMTA1 fusion, with 18.4% of participants exhibiting a potentially targetable variant. Participants with stage III/IV EHE were more likely to exhibit a secondary pathogenic variant. Meaning Next-generation sequencing may identify secondary genomic variants that are associated with EHE aggressiveness; additionally, these variants may represent potential therapeutic targets.

Observational StudyVery Rigorous Journal

Study Snapshot

Next-generation sequencing can identify secondary genomic variants associated with epithelioid hemangioendothelioma aggressiveness and potential therapeutic targets.

PopulationOlder adults (50-71 years)

Sample size24

MethodsObservational

OutcomesBody Mass Index projections

ResultsSocial networks mitigate obesity in older groups.

Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma

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