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Background <p>Melanoma 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.</p> Objective <p>We aimed to characterize genomic alterations in cutaneous melanoma and compare mutation prevalences between primary and metastatic tumors to improve therapeutic strategies.</p> Methods <p>We 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<sup>2</sup> statistics. This study was reported in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.</p> Results <p>Ninety-nine publications were included, encompassing 10,386 primary cutaneous melanoma samples and 4273 metastatic samples. The most frequently mutated genes in both settings were <i>BRAF</i>, <i>TERT</i>, <i>TP53</i>, <i>NRAS</i>, and <i>NF1</i>. The prevalence of <i>BRAF</i>, <i>NRAS</i>, <i>TERT</i>, <i>CDKN2A</i>, and <i>PTEN</i> mutations was significantly higher in metastatic lesions. <i>NRAS</i> mutations were more common in central nervous system metastases than in other metastatic sites. In contrast, <i>KIT</i> mutations were more common in primary tumors. Acral melanoma exhibited a distinct molecular profile, with an overall lower mutation prevalence, particularly involving <i>BRAF</i>. Chromosomal losses at 9p21.3 and 9p21 were commonly observed in both primary and metastatic tumors, with higher prevalence in primary tumors.</p> Conclusions <p>Our findings highlight distinct genomic differences between primary and metastatic melanoma, underscoring the value of metastatic tumor biopsies in informing molecularly guided treatment decisions.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月14日

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

摘要

Background

Melanoma 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.

Objective

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

Methods

We 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 I2 statistics. This study was reported in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

Results

Ninety-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.

Conclusions

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