ArticleScientific reports2022
Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 15 citations in OpenAlex.
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- Characterization of Mutational Signatures in Tumors from a Large Chinese Population.Cancer research communications · 2025Article
- Recent Advances in Molecular Research and Treatment for Melanoma in Asian Populations.International journal of molecular sciences · 2025Review
- Genomic profiling and personalized treatment strategies for skin malignancies: findings from the center for cancer genomics and advanced therapeutics database.International journal of clinical oncology · 2025Review
- Genomic landscape of cutaneous, acral, mucosal, and uveal melanoma in Japan: analysis of clinical comprehensive genomic profiling data.International journal of clinical oncology · 2024Article
- Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.Cancer medicine · 2024Article
- Proteogenomic insights into the biology and treatment of pan-melanoma.Cell discovery · 2024Article
- Comparative transcriptomic analysis reveals differences in gene expression and regulatory pathways between nonacral and acral melanoma in Asian individuals.The Journal of dermatology · 2024Article
- Optimal strategy in managing advanced melanoma.The Journal of dermatology · 2024Review
- RPTOR mutation: a novel predictor of efficacious immunotherapy in melanoma.Investigational new drugs · 2024Article
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- The expression pattern of pyroptosis-related genes predicts the prognosis and drug response of melanoma.Scientific reports · 2022Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limited studies have interrogated the genomic landscape of Chinese melanoma in which acral and mucosal melanoma are the mainstay. In this study, we carried out a retrospective analysis on 81 Chinese melanoma patients (15 acral, 25 mucosal and 41 cutaneous melanoma). With the identification of 1114 mutations spanning 248 genes, we summarized that the mutation spectrum varied significantly by subtypes. Acral melanoma and mucosal melanoma had significantly more CNVs. MYC amplification was one of the most commonly detected CNVs, other frequent CNVs in mucosal melanoma included NBN and KDR, which were associated with the poor survival of melanoma patients. A generally low TMB, with a median of only 5.1 mut/Mb, was observed in three groups including cutaneous melanoma. Additionally, over 50% variants in DNA damage repair pathway were detected in all three subtypes, most of which were HRD related genes. Patients with alterations of HRD related genes had a longer survival time after immunotherapy. This study revealed a molecular profiling of Chinese patients with advanced melanoma, and proposed the high variant rate in DDR pathway as a biomarker of immunotherapy, which might provide therapeutic targets and guidance in making clinical decision for different Chinese melanoma.
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