Recurrent GNAQ mutations in anastomosing hemangiomas

Anastomosing hemangiomas are recently described benign vascular lesions that occur chiefly in the genitourinary tract and paravertebral soft tissues. Owing to their rarity and unusual cytoarchitectural features, anastomosing hemangiomas are frequently confused with low-grade angiosarcomas. The speci...

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Bibliographic Details
Published in:Modern pathology 2017-05, Vol.30 (5), p.722-727
Main Authors: Bean, Gregory R, Joseph, Nancy M, Gill, Ryan M, Folpe, Andrew L, Horvai, Andrew E, Umetsu, Sarah E
Format: Article
Language:English
Subjects:
45/23
631/67/69
692/420/2489/68
Adult
Aged
Archives & records
Cancer
DNA Mutational Analysis
Female
Genomes
Genomics
GTP-Binding Protein alpha Subunits, Gq-G11 - genetics
Hemangioma
Hemangioma - genetics
Humans
Hysterectomy
Laboratory Medicine
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
original-article
Ovaries
Pathogenesis
Pathology
Retrospective Studies
Signal transduction
Tumors
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Summary:Anastomosing hemangiomas are recently described benign vascular lesions that occur chiefly in the genitourinary tract and paravertebral soft tissues. Owing to their rarity and unusual cytoarchitectural features, anastomosing hemangiomas are frequently confused with low-grade angiosarcomas. The specific genetic alterations underlying these lesions are currently unknown. We performed capture-based next-generation DNA sequencing analysis on 13 anastomosing hemangiomas and identified frequent somatic mutations in the heterotrimeric G-protein alpha-subunit, GNAQ. Nine of 13 cases (69%) harbored a somatic mutation at GNAQ codon 209, a known hotspot that is commonly mutated in uveal melanoma and blue nevi, as well as various congenital vascular proliferations. No other pathogenic or likely pathogenic mutations were identified in these genetically simple lesions. The finding of a recurrent driver mutation in the G-protein signal transduction pathway provides strong evidence that anastomosing hemangiomas are indeed clonal vascular neoplasms.
ISSN:0893-3952
1530-0285
DOI:10.1038/modpathol.2016.234