Evidence map›Paper›PMID 42133201›Full record

SynthesisAmerican journal of clinical dermatology2026

Genomics of Primary and Metastatic Cutaneous Melanoma: A Systematic Review and Meta-Analysis.

Manh Duc Hoang, Thi Oanh Bui, Van Tu Dao, Van Quang Le, Céleste Lebbé, Guilhem Bousquet

Erratum issuedAbstract readSystematic ReviewMeta-Analysis
In one paragraph

Synthesis in American journal of clinical dermatology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Manh Duc HoangNational Cancer Hospital, Cancer Research and Clinical Trials Center, Hanoi, Vietnam.
Thi Oanh BuiNational Cancer Hospital, Cancer Research and Clinical Trials Center, Hanoi, Vietnam.
Van Tu DaoNational Cancer Hospital, Cancer Research and Clinical Trials Center, Hanoi, Vietnam.
Van Quang LeNational Cancer Hospital, Cancer Research and Clinical Trials Center, Hanoi, Vietnam.
Céleste LebbéUniversité Paris Cité, INSERM U976 HIPI, Paris, France.
Guilhem BousquetNational Cancer Hospital, Cancer Research and Clinical Trials Center, Hanoi, Vietnam. guilhem.bousquet@aphp.fr.ORCID http://orcid.org/0000-0001-5594-6694

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMelanoma is an aggressive skin cancer with limited durable responses despite therapeutic advances. Comprehensive characterization of genomic alterations may improve understanding of disease progression and inform therapeutic strategies.

objectiveWe aimed to characterize genomic alterations in cutaneous melanoma and compare mutation prevalences between primary and metastatic tumors to improve therapeutic strategies.

methodsWe conducted a systematic review and meta-analysis of genomic data from primary and metastatic cutaneous melanomas to assess the prevalence of gene mutations and copy number alterations. Relevant studies were identified in MEDLINE and Embase up to October 2024 using the search algorithm ((Mutation) OR "Genomics"[Mesh]) AND ("Melanoma"[Mesh]). Data were synthesized using random-effects meta-analyses to estimate the pooled prevalence of gene mutations and copy number variations, with heterogeneity assessed using I

resultsNinety-nine publications were included, encompassing 10,386 primary cutaneous melanoma samples and 4273 metastatic samples. The most frequently mutated genes in both settings were BRAF, TERT, TP53, NRAS, and NF1. The prevalence of BRAF, NRAS, TERT, CDKN2A, and PTEN mutations was significantly higher in metastatic lesions. NRAS mutations were more common in central nervous system metastases than in other metastatic sites. In contrast, KIT mutations were more common in primary tumors. Acral melanoma exhibited a distinct molecular profile, with an overall lower mutation prevalence, particularly involving BRAF. Chromosomal losses at 9p21.3 and 9p21 were commonly observed in both primary and metastatic tumors, with higher prevalence in primary tumors.

conclusionsOur findings highlight distinct genomic differences between primary and metastatic melanoma, underscoring the value of metastatic tumor biopsies in informing molecularly guided treatment decisions.

Indexed as

MelanomaSkin NeoplasmsCutaneous Malignant MelanomaDNA Copy Number VariationsGenomicsHumansMutation

Identifiers

PMID42133201
PMCPMC13578081

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.