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.