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. Author manuscript; available in PMC: 2020 Apr 1.
Published in final edited form as: Am J Dermatopathol. 2019 Apr;41(4):264–272. doi: 10.1097/DAD.0000000000001259

Table 2.

TERT promoter mutation status in 86 primary melanomas, 72 nevi, and 40 diagnostically uncertain melanocytic proliferations

TERT promoter mutation* Primary Melanomas (n=86) Nevi (n=72) Uncertain (n=40)
Number (%) Number (%) Number (%)
Hotspot mutations creating ETS/TCF sites n=67 (77.9%) n=1 (1.4%) n=2 (5.0%)
-124C>T 29 (33.7) 1 (1.4) 1 (2.5)
-124_125CC>TT 1 (1.2)
-138_139CC>TT 4 (4.7)
-146C>T§ 33 (38.4) 1 (2.5)
Less common mutations creating ETS/TCF sites n=4 (4.7%) n=1 (2.5%)
-103C>T|| 1 (1.2)
-105_106CC>TT 1 (1.2)
-148C>T** 2 (2.3)
-156C>T†† 1 (2.5)
Mutations not creating an ETS/TCF site n=2 (2.3%) n=7 (9.7%) n=2 (5.0%)
 -85C>T;-154C>T 1 (2.5)
 -106C>T;-117C>T;-149C>T 1 (1.4)
 -107C>T 1 (1.2)
 -116C>T;-179C>T 1 (1.4)
 -125C>T 1 (1.4)
 -149C>T 2 (2.8)
 -149C>T;-127C>T 1 (1.4)
 -149C>T;-160C>T 1 (2.5)
 -151C>T 1 (1.2)
 -161C>T 1 (1.4)
No mutations 13 (15.2) 64 (88.9) 35 (87.5)
*

Bolded mutations create de novo ETS/TCF binding sites.

Mutations create confirmed functional ETS/TCF binding sites.

Six melanomas with -124C>T mutations had additional mutations: -124C>T;-101C>T (n=2), -124C>T;-103C>T (n=1), -124C>T;-126C>T (n=1), -124C>T;-131C>T;-166C>T (n=1) and -124C>T;-148C>T (n=1).

§

Twelve melanoma with -146C>T mutations had additional mutations: -146C>T;-107C>T;-117C>T (n=1), -146C>T;-149C>T;-153G>A (n=1), -146C>T;-165C>G (n=1), -146C>T;-116C>T (n=1), -146C>T;-125C>T (n=2), -146C>T;-126C>T;-195C>A (n=1), -146C>T;-127C>T (n=1), -146C>T;-149C>T (n=1), -146C>T;-150C>T (n-1), -146C>T;-150C>T;-166C>T (n=1) and -146C>T;-101C>T;-165C>T (n=1).

Mutations create ETS/TCF sites but less common and not confirmed to be functional.

||

The melanoma with the -103C>T mutation also had a -160C>T mutation.

**

One of the melanomas with a -148C>T mutation also had the following mutations: -161C>T;-175C>T;-187C>T;-242C>T

††

The uncertain sample with the -156C>T mutation also had a -149C>T mutation.