ArticleOncotarget2017
Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 85 citations in OpenAlex.
- Nilotinib in KIT-driven advanced melanoma: Results from the phase II single-arm NICAM trial.Cell reports. Medicine · 2024Trial
- Advanced Mucosal Melanoma Therapies: Current Status and Future Directions.Current treatment options in oncology · 2026Review
- Exploring Molecular Characteristics and Therapeutic Strategies for Primary Sinonasal Mucosal Melanoma With Distant Metastasis.Laboratory investigation; a journal of technical methods and pathology · 2025Article
- Review
- Primary Melanoma of the Urinary Bladder: Clinical, Histopathologic, and Comprehensive Molecular Analysis of a Rare Tumor.International journal of surgical pathology · 2025Article
- Dissecting the MAPK signaling landscape in malignant melanoma: from BRAF and NRAS mutations to precision combination therapies.Frontiers in cell and developmental biology · 2025Review
- Cutaneous Melanoma: An Overview of Physiological and Therapeutic Aspects and Biotechnological Use of Serine Protease Inhibitors.Molecules (Basel, Switzerland) · 2024Review
- Multidisciplinary approach and treatment of acral and mucosal melanoma.Frontiers in oncology · 2024Review
- Multimodal treatment and immune checkpoint inhibition in sinonasal mucosal melanoma: real-world data of a retrospective, single-center study.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2023Article
- Experimental Models for Rare Melanoma Research-The Niche That Needs to Be Addressed.Bioengineering (Basel, Switzerland) · 2023Review
- Review
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Genomics and Epigenomics in the Molecular Biology of Melanoma-A Prerequisite for Biomarkers Studies.International journal of molecular sciences · 2022Review
- Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors.International journal of cancer · 2022Article
- Genetic and Methylation Analysis of CTNNB1 in Benign and Malignant Melanocytic Lesions.Cancers · 2022Article
- Anorectal and Genital Mucosal Melanoma: Diagnostic Challenges, Current Knowledge and Therapeutic Opportunities of Rare Melanomas.Biomedicines · 2022Review
- Urethral Melanoma - Clinical, Pathological and Molecular Characteristics.Bladder cancer (Amsterdam, Netherlands) · 2022Article
- NF1-mutated melanomas reveal distinct clinical characteristics depending on tumour origin and respond favourably to immune checkpoint inhibitors.European journal of cancer (Oxford, England : 1990) · 2021Article
- Genetic alteration of Chinese patients with rectal mucosal melanoma.BMC cancer · 2021Article
- Molecular pathology as a diagnostic aid in difficult-to-classify melanocytic tumours with spitzoid morphology.European journal of cancer (Oxford, England : 1990) · 2021Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMucosal melanoma represents ~1% of all melanomas, frequently having a poor prognosis due to diagnosis at a late stage of disease. Mucosal melanoma differs from cutaneous melanoma not only in terms of poorer clinical outcome but also on the molecular level having e.g. less BRAF and more frequent KIT mutations than cutaneous melanomas. For the majority of mucosal melanomas oncogenic driver mutations remain unknown. EXPERIMENTAL DESIGN AND
resultsIn our study, 75 tumor tissues from patients diagnosed with mucosal melanoma were analyzed, applying a targeted next generation sequencing panel covering 29 known recurrently mutated genes in melanoma. NF1 and RAS mutations were identified as the most frequently mutated genes occurring in 18.3% and 16.9% of samples, respectively. Mutations in BRAF were identified in 8.4% and KIT in 7.0% of tumor samples.
conclusionsOur study identifies NF1 as the most frequently occurring driver mutation in mucosal melanoma. RAS alterations, consisting of NRAS and KRAS mutations, were the second most frequent mutation type. BRAF and KIT mutations were rare with frequencies below 10% each. Our data indicate that in mucosal melanomas RAS/NF1 alterations are frequent, implying a significant pathogenetic role for MAPK and potentially PI3K pathway activation in these tumors.
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