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.
Highlights
Mutations in the promoter of the telomerase reverse transcriptase (TERT) gene have been described as the most common hot-spot mutations in various solid tumors [1]
In our cohort of 104 vascular tumors from 102 patients, the TERT promoter region showed wild-type reads in 97 tumors (93.3%) and harbored one mutation in 7 cases
We analyzed the presence of TERT promoter mutations in a previously characterized cohort of vascular tumors comprising benign hemangiomas, vascular malformations, angiosarcomas, and Kaposi’s sarcomas by targeted next-generation sequencing [2]
Summary
Mutations in the promoter of the telomerase reverse transcriptase (TERT) gene have been described as the most common hot-spot mutations in various solid tumors [1]. The recurrent hotspot point mutations, primarily affecting two sites, were first identified in melanomas [2,3] and described in more than 50 distinct cancer types [1]. Based on their hg 19 genomic coordinates, the mutations are referred to as Chr.5:1295228.
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call