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Virchows Archiv

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09.11.2019 | Brief Report

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

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

Erschienen in: Virchows Archiv | Ausgabe 3/2020

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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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Titel: GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma
verfasst von: Jau-Yu Liau
Jia-Huei Tsai
Jui Lan
Chih-Chi Chen
Ying-Hao Wang
Jen-Chieh Lee
Hsuan-Ying Huang
Publikationsdatum: 09.11.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 3/2020
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-019-02673-y

Springer Medizin

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

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

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