ArticleMolecular oncology2017
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.
Article in Molecular oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 3 of them syntheses that pooled it.
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Who cites it
74 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Objective response to immune checkpoint inhibitor therapy inFrontiers in medicine · 2023Pooled it
- Systematic review and meta-analysis of genomic alterations in acral melanoma.Pigment cell & melanoma research · 2022Pooled it
- SEOM clinical guideline for the management of cutaneous melanoma (2020).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Guideline
- TMB and Inflammatory Gene Expression Associated with Clinical Outcomes following Immunotherapy in Advanced Melanoma.Cancer immunology research · 2021Trial
- Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.American journal of human genetics · 2026Article
- Genotype-driven tumor ecosystems drive immune evasion and immunotherapy resistance in melanoma.Molecular cancer · 2026Article
- Genetic landscape of stage II melanoma identifies CBL as a new driver gene and prognostic biomarker.British journal of cancer · 2026Article
- Benefit of immune checkpoint inhibitors as adjuvant treatment for acral melanomas.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Article
- Regulation and Implementation of Apoptosis in Melanoma Tumor Cells withCurrent issues in molecular biology · 2026Review
- Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.FEBS open bio · 2026Article
- Surgical Management of Stage IV Melanoma: Clinical, Molecular, and Therapeutic Considerations.International journal of molecular sciences · 2026Review
- Functional characterization of the 9q34.13 locus identifiesbioRxiv : the preprint server for biology · 2026Article
- Lactylation in cancer: molecular mechanisms and advances in clinical study.Molecular cancer · 2026Review
- Molecular effects of indoor tanning.Science advances · 2025Article
- Identification of the immune subtypes associated with the prognosis and immunotherapy of metastatic melanoma.Translational cancer research · 2025Article
- NF1 Loss Promotes EGFR Activation and Confers Sensitivity to EGFR Inhibition in NF1-Mutant Melanoma.Cancer research · 2025Article
- A novel germlinePathologica · 2025Article
- Review
- Ancestry and somatic profile predict acral melanoma origin and prognosis.medRxiv : the preprint server for health sciences · 2025Article
- Genomic profiles of patients with skin melanoma in the era of immune checkpoint inhibitors.Cancer science · 2025Article
14 more citing papers are in PubMed but not listed here.
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13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In general, melanoma can be considered as a UV-driven disease with an aggressive metastatic course and high mutational load, with only few tumors (acral, mucosal, and uveal melanomas) not induced by sunlight and possessing a lower mutational load. The most commonly activated pathway in melanoma is the mitogen-activated protein kinase (MAPK) pathway. However, the prognostic significance of mutational stratification is unclear and needs further investigation. Here, in silico we combined mutation data from 162 melanomas subjected to targeted deep sequencing with mutation data from three published studies. Tumors from 870 patients were grouped according to BRAF, RAS, NF1 mutation or triple-wild-type status and correlated with tumor and patient characteristics. We found that the NF1-mutated subtype had a higher mutational burden and strongest UV mutation signature. Searching for co-occurring mutated genes revealed the RASopathy genes PTPN11 and RASA2, as well as another RAS domain-containing gene RASSF2 enriched in the NF1 subtype after adjustment for mutational burden. We found that a larger proportion of the NF1-mutant tumors were from males and with older age at diagnosis. Importantly, we found an increased risk of death from melanoma (disease-specific survival, DSS; HR, 1.9; 95% CI, 1.21-3.10; P = 0.046) and poor overall survival (OS; HR, 2.0; 95% CI, 1.28-2.98; P = 0.01) in the NF1 subtype, which remained significant after adjustment for age, gender, and lesion type (DSS P = 0.03, OS P = 0.06, respectively). Melanoma genomic subtypes display different biological and clinical characteristics. The poor outcome observed in the NF1 subtype highlights the need for improved characterization of this group.
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