GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma
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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.
KeywordsAnastomosing hemangioma GNAQ GNA11 GNA14
The authors are grateful to Dr. Yi-Jia Lin at Tri-Service General Hospital, Taipei, Taiwan and Dr. Yu-Chien Kao at Shuang Ho Hospital, Taipei Medical University, Taipei, Taiwan for contributing the two consultation cases.
JYL conceived the study and wrote the manuscript. JYL, JCL, and HYH reviewed the histological sections and designed the experiments. JYL, JHT, and JL analyzed the data. CCC and YHW performed the experiments.
This work was in part supported by grants MOST 106-2320-B-002-028-MY3 from the Ministry of Science and Technology, Taiwan to Dr. Jen-Chieh Lee, 108-S4200 from National Taiwan University Hospital to Jau-Yu Liau, and Chang Gung Hospital (CMRPG8G0881) to Hsuan-Ying Huang.
Compliance with ethical standards
The data and experiments reported here were carried out in agreements with the Declaration of Helsinki principles and in agreement with the Ethics Committee of National Taiwan University Hospital.
Conflict of interest
The authors declare that they have no conflicts of interest.
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