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

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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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Acknowledgments

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.

Funding

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.

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Authors and Affiliations

  1. Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, No. 7, Chung-Shan South Rd., Zhong Zheng District, Taipei, Taiwan

    Jau-Yu Liau, Jia-Huei Tsai & Jen-Chieh Lee

  2. Graduate Institute of Pathology, National Taiwan University College of Medicine, Taipei, Taiwan

    Jau-Yu Liau, Jia-Huei Tsai, Chih-Chi Chen, Ying-Hao Wang & Jen-Chieh Lee

  3. Department of Anatomic Pathology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, No. 123, Ta Pei Rd., Niao Sung District, Kaohsiung, Taiwan

    Jui Lan & Hsuan-Ying Huang

Authors
  1. Jau-Yu Liau
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  2. Jia-Huei Tsai
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  3. Jui Lan
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  4. Chih-Chi Chen
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  5. Ying-Hao Wang
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  6. Jen-Chieh Lee
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  7. Hsuan-Ying Huang
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Contributions

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.

Corresponding authors

Correspondence to Jen-Chieh Lee or Hsuan-Ying Huang.

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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.

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The authors declare that they have no conflicts of interest.

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Liau, JY., Tsai, JH., Lan, J. et al. GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma. Virchows Arch 476, 475–481 (2020). https://doi.org/10.1007/s00428-019-02673-y

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  • DOI: https://doi.org/10.1007/s00428-019-02673-y

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