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.
Graduate Institute of Pathology, National Taiwan University College of Medicine, Taipei, Taiwan.
Virchows Arch. 2020 Mar;476(3):475-481. doi: 10.1007/s00428-019-02673-y. Epub 2019 Nov 9.
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.
吻合性血管瘤（AH）是一种独特的良性血管肿瘤，在组织学上可能与血管肉瘤混淆。最近，AH 中发现了复发性 GNAQ 和 GNA14 突变。GNA11 是 GNAQ 的另一个旁系同源物，与 GNAQ 的同源性最高，但尚未发现其在 AH 中发生突变。在这项研究中，我们研究了 26 例 AH 的临床病理和分子特征。通过 Sanger 测序和 MassARRAY 分析，在 22 例研究肿瘤中，分别在 10、5 和 5 例肿瘤中鉴定出 GNAQ、GNA11 和 GNA14 外显子 5 中的互斥突变，总突变率为 91%。GNAQ、GNA11 或 GNA14 突变肿瘤的临床病理特征无明显差异。我们的研究结果表明，GNA11 突变以及其先前已知的旁系同源物 GNAQ 和 GNA14 的突变，是 AH 发病机制中的重要驱动因素。
