Differences in survival according to the pTERT mutation subtypes (−124C > T, −146C > T, and tandem −138_139CC > TT) have been observed. The present study aimed to describe the clinical as the histopathological and molecular cutaneous melanoma features according to the presence of the three most prevalent pTERT mutation subtypes (−124C > T, −146C > T, and tandem −138_139CC > TT). A retrospective cross-sectional study including 684 patients was designed, and a Partial Least-Squares Discriminant Analysis (PLS-DA) was performed. After the PSL-DA, it was observed that the tandem −138_139CC > TT subtype differs from the other subtypes. The model demonstrated that the −124C > T and the −138_139 CC > TT subtypes were associated with fast-growing melanomas (OR 0.5, CI 0.29–0.86, p = .012) and with Breslow >2 mm (OR 0.6, CI 0.37–0.97, p = .037), compared to the −146C > T mutation. Finally, the −124C > T appeared to be more associated with the presence of TILs (non-brisk) than the −146C > T (OR 0.6, CI 0.40–1.01, p = .05). These findings confirmed that the −124C > T and the tandem −138_139 CC > TT subtypes are both highly associated with the presence of features of aggressiveness; however, only the −124C > T was highly associated with TILs. This difference could explain the worse survival rate associated with the tandem −138_139CC > TT mutations.

中文翻译：

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由于不同的 TERT 启动子突变亚型导致黑色素瘤的临床、组织学和分子差异。684 名黑色素瘤患者的回顾性横断面研究

已观察到根据pTERT突变亚型（−124C > T、−146C > T 和串联−138_139CC > TT）的生存差异。本研究旨在根据三种最常见的pTERT突变亚型（-124C > T、-146C > T 和串联 -138_139CC > TT）的存在，将临床描述为组织病理学和分子皮肤黑色素瘤特征。设计了一项纳入 684 名患者的回顾性横断面研究，并进行了偏最小二乘判别分析 (PLS-DA)。PSL-DA 后，观察到串联 -138_139CC > TT 亚型与其他亚型不同。该模型证明，−124C > T 和−138_139 CC > TT 亚型与快速生长的黑色素瘤相关（OR 0.5，CI 0.29–0.86，p  = 0.012），并且与 Breslow >2 mm（OR 0.6，CI 0.37）相关。 –0.97，p  = .037)，与 -146C > T 突变相比。最后，-124C > T 似乎比 -146C > T 与 TIL（非轻快）的存在更相关（OR 0.6，CI 0.40–1.01，p  = 0.05）。这些发现证实，-124C > T 和串联的 -138_139 CC > TT 亚型均与攻击性特征的存在高度相关。然而，只有 -124C > T 与 TIL 高度相关。这种差异可以解释与串联 -138_139CC > TT 突变相关的较差生存率。