Evidence map›Paper›PMID 42697112›Full record

ArticleESMO open2026

Anatomical location defines distinct molecular subtypes of mucosal melanoma.

E-R Zhou, J Rusheen, R Baumann, S Ariyan, H M Kluger, S Gabizon-Peretz

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Article in ESMO open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

E-R ZhouDepartment of Medicine, Yale University, New Haven, USA.
J RusheenDepartment of Medicine, Yale University, New Haven, USA.
R BaumannDepartment of Medicine, Yale University, New Haven, USA.
S AriyanDepartment of Surgery, Yale University, New Haven, USA.
H M KlugerMedical Oncology, Yale University, New Haven, USA; Smilow Cancer Hospital at Yale New Haven, New Haven, USA. Electronic address: Harriet.Kluger@Yale.edu.
S Gabizon-PeretzMedical Oncology, Yale University, New Haven, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMucosal melanoma (MM) is a rare and aggressive melanoma subtype that is understudied. The relationships between anatomical location, genomic alterations, stage at presentation, and survival remain incompletely characterized.

methodsWe carried out a retrospective single tertiary center study of 105 patients with histologically confirmed MM diagnosed between 1996 and 2025. Clinical and genomic data were analyzed to evaluate associations between anatomical location, mutational profile, stage at presentation, and survival outcomes, including melanoma-specific mortality.

resultsLower-body tumors arising in the anus or genital areas were enriched for KIT and splicing factor 3 subunit B1 alterations, whereas NRAS mutations were distributed across anatomical regions. Among the two most common mutated genes, NRAS-mutant tumors were more likely than KIT-mutant tumors to present with metastatic disease [53% versus 19%; P = 0.046, odds ratio (OR) 4.7, 95% confidence interval (CI) 1.15-19.41]. Lower-body tumors were associated with worse overall survival (OS) than upper-body tumors (median 2.81 versus 8.40 years; OR = 0.05) and with higher melanoma-specific mortality. In multivariable analyses, upper-body location remained independently associated with improved OS (hazard ratio 0.14, 95% CI 0.05-0.36, P < 0.001).

conclusionsAnatomical location of MMs and genomic alterations define biologically and clinically distinct subtypes.

Indexed as

anatomical locationgenomic alterationsKIT mutationmucosal melanomaNRAS mutation

Identifiers

PMID42697112
PMCPMC13572300

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