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01-03-2020 | Hemangioma | Brief Report

GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma

Authors: Jau-Yu Liau, Jia-Huei Tsai, Jui Lan, Chih-Chi Chen, Ying-Hao Wang, Jen-Chieh Lee, Hsuan-Ying Huang

Published in: Virchows Archiv | Issue 3/2020

Abstract

Anastomosing hemangioma (AH) is a distinct benign vascular tumor that may be histologically confused with an angiosarcoma. Recently, recurrent GNAQ and GNA14 mutations were identified in AH. GNA11, another paralogue of GNAQ and the one that shows the highest degree of homology to GNAQ, has not yet been found to be mutated in AH. In this study, we investigated the clinicopathological and molecular features of 26 AHs. By Sanger sequencing and MassARRAY analysis, mutually exclusive mutations in exon 5 of GNAQ, GNA11, and GNA14 were identified in 10, 5, and 5 tumors, respectively, of the 22 investigated tumors, with an overall mutation rate of 91%. No notable differences in the clinicopathological features were observed between GNAQ-, GNA11-, or GNA14-mutated tumors. Our results implicated GNA11 mutations, as well as previously known mutations of its paralogues GNAQ and GNA14, as essential drivers in the pathogenesis of AH.

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Title: GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma
Authors: Jau-Yu Liau
Jia-Huei Tsai
Jui Lan
Chih-Chi Chen
Ying-Hao Wang
Jen-Chieh Lee
Hsuan-Ying Huang
Publication date: 01-03-2020
Publisher: Springer Berlin Heidelberg
Keywords: Hemangioma
Hemangioma
Hemangioma
Vascular Tumor
Hemangioma
Vascular Tumor
Hemangioma
Published in: Virchows Archiv / Issue 3/2020
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-019-02673-y

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GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma

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