P592: Diagnostic utility of next-generation sequencing for somatic mosaicism: Insights from routine clinical practice

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Reger R. Mikaeel, Meagan M. Corliss, Kevin M. Bowling, Kilannin Krysiak, Jason Walker, Molly C. Schroeder, Bijal A. Parikh, Julie Neidich, Yang Cao
DOI: 10.1016/j.gimo.2026.104083
Cited by: 0

Abstract

Postzygotic (somatic) variants are a major driver of vascular anomalies and segmental overgrowth, with recurrent mutational hotspots in PI3K–AKT–mTOR (eg, PIK3CA, and TEK/TIE2), RAS–MAPK signaling (eg, KRAS, NRAS, and BRAF), and Gαq signaling (eg, GNAQ/GNA11) pathways. These alterations are typically confined to the lesion and present at low variant-allele fractions (VAFs), making lesion-directed, high-depth sequencing essential for detection and interpretation. However, real-world performance of clinical testing to genetically diagnose disorders of somatic mosaicism (DoSM) remains incompletely characterized.

Fields of Study & Subjects

Genomics and Rare Diseases Vascular Malformations and Hemangiomas Cancer Genomics and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104083–104083
Publication date
1 January 2026
Language
EN