In:
Dermato, MDPI AG, Vol. 1, No. 1 ( 2021-06-25), p. 18-25
Abstract:
Mutations in the promoter of the telomerase reverse transcriptase (TERT) gene have been described as the most common hot-spot mutations in different solid tumors. High frequencies of TERT promoter mutations have been reported to occur in tumors arising in tissues with low rates of self-renewal. For cutaneous vascular tumors, the prevalence of TERT promoter mutations has not yet been investigated in larger mixed cohorts. With targeted next-generation sequencing (NGS), we screened for different known recurrent TERT promoter mutations in various cutaneous vascular proliferations. In our cohort of 104 representative cutaneous vascular proliferations, we identified 7 TERT promoter mutations. We could show that 4 of 64 (6.3%) hemangiomas and vascular malformations harbored TERT promoter mutations (1 Chr.5:1295228 C 〉 T mutations, 1 Chr.5:1295228_9 CC 〉 TT mutation, and 2 Chr.5:1295250 C 〉 T mutations), 1 of 19 (5.3%) angiosarcomas harbored a Chr.5:1295250 C 〉 T TERT promoter mutation, and 2 of 21 (9.5%) Kaposi’s sarcomas harbored TERT promoter mutations (2 Chr.5:1295250 C 〉 T mutations). To our knowledge, this is the first general description of the distribution of TERT promoter mutations in a mixed cohort of cutaneous vascular tumors, revealing that TERT promoter mutations seem to occur with low prevalence in both benign and malignant cutaneous vascular proliferations.
Type of Medium:
Online Resource
ISSN:
2673-6179
DOI:
10.3390/dermato1010003
Language:
English
Publisher:
MDPI AG
Publication Date:
2021
detail.hit.zdb_id:
3136544-9
Permalink