ArticleEuropean journal of cancer (Oxford, England : 1990)2021
NF1-mutated melanomas reveal distinct clinical characteristics depending on tumour origin and respond favourably to immune checkpoint inhibitors.
Article in European journal of cancer (Oxford, England : 1990), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Role of Surgery in Metastatic Melanoma and Review of Melanoma Molecular Characteristics.Cells · 2024Pooled it
- Objective response to immune checkpoint inhibitor therapy inFrontiers in medicine · 2023Pooled it
- Genotype-driven tumor ecosystems drive immune evasion and immunotherapy resistance in melanoma.Molecular cancer · 2026Article
- Targeting MAPK Pathways in Skin, Thyroid, and Pancreatic Cancer: A Perspective on Synthetic Inhibitors and Natural Modulators.Advanced biology · 2026Review
- NF1 mutation may be associated with lung-tropic metastasis in cutaneous melanoma: a genomic analysis of 520 patients.Clinical & experimental metastasis · 2026Article
- Comprehensive Genomic Profiling of Acral Melanoma: Insights From the AACR Project GENIE Database.The American Journal of dermatopathology · 2026Article
- Surgical Management of Stage IV Melanoma: Clinical, Molecular, and Therapeutic Considerations.International journal of molecular sciences · 2026Review
- Prospective tumour mutation burden and neoantigen profiling predicts immunotherapy response in metastatic melanoma.NPJ precision oncology · 2026Article
- ATAD2 drives melanoma growth and progression and inhibits ferroptosis.EMBO reports · 2026Article
- Genetic diversity in melanomagenesis: a comprehensive analysis of BRAF, NRAS, KIT and novel mutations across melanoma subtypes.BMC cancer · 2025Article
- NF1 Loss Promotes EGFR Activation and Confers Sensitivity to EGFR Inhibition in NF1-Mutant Melanoma.Cancer research · 2025Article
- A novel germlinePathologica · 2025Article
- Ancestry and somatic profile predict acral melanoma origin and prognosis.medRxiv : the preprint server for health sciences · 2025Article
- Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2025Article
- In-depth assessment of BRAF, NRAS, KRAS, EGFR, and PIK3CA mutations on cell-free DNA in the blood of melanoma patients receiving immune checkpoint inhibition.Journal of experimental & clinical cancer research : CR · 2025Article
- Emodin and Aloe-Emodin Reduce Cell Growth and Disrupt Metabolic Plasticity in Human Melanoma Cells.Nutrients · 2025Article
- Melanoma Management: Exploring Staging, Prognosis, and Treatment Innovations.International journal of molecular sciences · 2024Review
- Development of Personalized Strategies for Precisely Battling Malignant Melanoma.International journal of molecular sciences · 2024Review
- Molecular Frontiers in Melanoma: Pathogenesis, Diagnosis, and Therapeutic Advances.International journal of molecular sciences · 2024Review
- NF1 mutations as biomarker of response to immune checkpoint blockades for lung adenocarcinoma patients.NPJ precision oncology · 2024Article
Corrections and comments
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Authors and funding
29 authors at 11 institutions in 2 countries.
Funding
Abstract
backgroundNF1-mutated tumours represent a small subset (10-15%) of melanomas, not sufficiently analysed in large clinical cohorts. This study investigated the largest multicentre collection of NF1-mutated melanomas to date.
methodsThis study analysed a multicentre tumour tissue sample cohort from 266 patients with NF1-mutated melanoma. Targeted next-generation sequencing of the TERT promoter and 29 relevant melanoma genes was performed. Survival was compared with NF1 wild-type cohorts from the Tissue Registry in Melanoma project (n = 432).
resultsMost NF1-mutated melanoma arose in the head-and-neck region of patients >60 years. NF1 alterations were frequently inactivating, primarily non-sense, less frequently truncating mutations. Non-inactivating NF1 mutations more frequently co-occurred with activating BRAF and RAS mutations. NF1-mutated tumours had higher numbers of gene mutations and UV signature C>T and CC>TT transitions than BRAF, RAS and triple wild-type melanomas. NF1-mutated acral and mucosal melanomas harboured a different mutation signature and were frequent in women (69% and 83%, respectively), differing from non-acral cutaneous NF1-mutated melanomas (men 73%, women 27%). Overall survival in stage IV disease was comparable for patients with NF1-mutated or wild-type melanoma. However, in patients receiving first-line immune checkpoint inhibitor treatment, better median overall survival (mOS) was observed for NF1-mutated than wild-type tumours (mOS = not reached vs mOS = 25.82, p = 0.0154, n = 80 and 432, respectively).
conclusionsCutaneous, acral and mucosal NF1-mutated melanomas vary in clinical and genetic characteristics and demonstrate a favourable outcome on immune checkpoint inhibition therapy.
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