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
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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.
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