Journal Article DKFZ-2026-01469

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Melanocortin-1 receptor variants and telomerase reverse transcriptase promoter mutations as prognostic biomarkers in stage IIB-IIC melanoma.

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2026
Lippincott Williams & Wilkins Hagerstown, Md.

Melanoma research 36(4), 286-295 () [10.1097/CMR.0000000000001113]
 GO

Abstract: Stage IIB-IIC cutaneous melanomas carry a substantial risk of recurrence and disease-related mortality despite complete surgical excision, highlighting the need for reliable prognostic biomarkers. We retrospectively analyzed 153 patients with stage IIB-IIC cutaneous melanoma who underwent surgery at the Instituto Valenciano de Oncología between May 2000 and August 2024. Recurrence-free survival (RFS), disease-free survival (DFS), and overall survival (OS) were estimated using Kaplan-Meier methods. Associations between clinicopathologic and molecular characteristics and survival outcomes were assessed by log-rank test and Cox proportional hazards models. At a median follow-up of 81.6 months, median RFS, DFS, and OS were 43, 31, and 50 months, respectively. In univariate analyses, both telomerase reverse transcriptase (TERT) promoter mutations [hazard ratio = 0.38, 95% confidence interval (CI) = 0.18-0.8, P = 0.008] and the absence of melanocortin-1 receptor (MC1R) variants (hazard ratio = 0.38, 95% CI = 0.16-0.91, P = 0.024) were significantly associated with RFS. In multivariate analyses, only TERT promoter mutations remained an independent predictor of both RFS (hazard ratio = 0.44, 95% CI = 0.20-0.96, P = 0.038) and DFS (hazard ratio = 0.47, 95% CI = 0.24-0.93, P = 0.030). Patients harboring TERT promoter mutations exhibited significantly poorer survival outcomes compared with those with wild-type TERT promoter status. Combined analysis supported the contrasting prognostic roles of TERT and MC1R. Our findings identify TERT promoter mutations as an independent prognostic factor and suggest a potential protective role of MC1R variants in stage IIB-IIC cutaneous melanoma.

Keyword(s): adjuvant therapy ; cutaneous melanoma ; melanocortin-1 receptor variants ; prognostic biomarker ; stage IIB–IIC melanoma ; telomerase reverse transcriptase promoter mutations

Classification:

Note: 2026 Aug 1;36(4):286-295 / Division of Functional Genome Analysis, Deutsches Krebsforschüngzentrum, Heidelberg, Germany

Contributing Institute(s):
  1. AG Funktionelle Genomanalyse (B070)
Research Program(s):
  1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2026
Database coverage:
Medline ; Allianz-Lizenz ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection
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 Record created 2026-06-17, last modified 2026-06-24



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