GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma.
Anastomosing hemangioma
GNA11
GNA14
GNAQ
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
14
06
2019
accepted:
22
09
2019
revised:
28
08
2019
pubmed:
11
11
2019
medline:
31
3
2020
entrez:
11
11
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31707589
doi: 10.1007/s00428-019-02673-y
pii: 10.1007/s00428-019-02673-y
doi:
Substances chimiques
GNA11 protein, human
0
GNAQ protein, human
0
GTP-Binding Protein alpha Subunits
0
GNA14 protein, human
EC 3.6.5.1
GTP-Binding Protein alpha Subunits, Gq-G11
EC 3.6.5.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
475-481Subventions
Organisme : Ministry of Science and Technology, Taiwan
ID : MOST 106-2320-B-002-028-MY3
Organisme : National Taiwan University Hospital
ID : 108-S4200
Organisme : Kaohsiung Chang Gung Memorial Hospital
ID : CMRPG8G0881
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