GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors.
dermatology
next generating sequencing
oncogene
oncology
vascular tumor
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
03
02
2021
accepted:
07
04
2021
entrez:
27
5
2021
pubmed:
28
5
2021
medline:
28
5
2021
Statut:
epublish
Résumé
Cutaneous vascular tumors consist of a heterogeneous group of benign proliferations, including a range of hemangiomas and vascular malformations, as well as heterogeneous groups of both borderline and malignant neoplasms such as Kaposi's sarcoma and angiosarcomas. The genetics of these tumors have been assessed independently in smaller individual cohorts making comparisons difficult. In our study, we analyzed a representative cohort of benign vascular proliferations observed in a clinical routine setting as well as a selection of malignant vascular proliferations. Our cohort of 104 vascular proliferations including hemangiomas, malformations, angiosarcomas and Kaposi's sarcoma were screened by targeted next-generation sequencing for activating genetic mutations known or assumed to be potentially relevant in vascular proliferations. An association analysis was performed for mutation status and clinico-pathological parameters. Frequent activating hotspot mutations in
Identifiants
pubmed: 34040639
doi: 10.3389/fgene.2021.663272
pmc: PMC8141909
doi:
Types de publication
Journal Article
Langues
eng
Pagination
663272Informations de copyright
Copyright © 2021 Jansen, Müller, Lodde, Zaremba, Möller, Sucker, Paschen, Esser, Schaller, Gunzer, Standl, Bauer, Schadendorf, Mentzel, Hadaschik and Griewank.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer BS declared a past co-authorship with the authors DS, PJ, AP, AS, KG, EH, and AZ to the handling editor.
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