ArticleScientific reports2019
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
- Melanoma treatment in the era of nanotechnology and precision medicine.Journal of nanobiotechnology · 2025Review
- High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.Endocrine pathology · 2025Article
- Analysis of IDH1 and IDH2 mutations as causes of the hypermethylator phenotype in colorectal cancer.The Journal of pathology · 2025Article
- Relapse-free survival in a pediatric patient with recurrent EZH2-mutant melanoma treated with adjuvant tazemetostat.NPJ precision oncology · 2025Article
- Genome-based analysis of the genetic pattern of black sheep in Qira sheep.BMC genomics · 2025Article
- miRNAs Involvement in Modulating Signalling Pathways Involved in Ros-Mediated Oxidative Stress in Melanoma.Antioxidants (Basel, Switzerland) · 2024Review
- Melanoma genomics - will we go beyond BRAF in clinics?Journal of cancer research and clinical oncology · 2024Review
- Discovery of a small molecule that inhibits Bcl-3-mediated cyclin D1 expression in melanoma cells.BMC cancer · 2024Article
- Refining mutanome-based individualised immunotherapy of melanoma using artificial intelligence.European journal of medical research · 2024Review
- From standard therapies to monoclonal antibodies and immune checkpoint inhibitors - an update for reconstructive surgeons on common oncological cases.Frontiers in immunology · 2024Review
- A novel method to assess copy number variation in melanoma: Droplet digital PCR for precise quantitation of the RREB1 gene in formalin-fixed, paraffin-embedded melanocytic neoplasms, a proof-of-concept study.Journal of cutaneous pathology · 2023Article
- Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion.Diagnostic pathology · 2023Article
- Review: The Key Factors to Melanomagenesis.Life (Basel, Switzerland) · 2023Review
- Dermokine mutations contribute to epithelial-mesenchymal transition and advanced melanoma through ERK/MAPK pathways.PloS one · 2023Article
- Targeting wild-type TP53 using AMG 232 in combination with MAPK inhibition in Metastatic Melanoma; a phase 1 study.Investigational new drugs · 2022Article
- Characteristics of amelanotic acantholytic-like melanoma resembling squamous cell carcinoma.Journal of cutaneous pathology · 2022Article
- SWI/SNF Chromatin Remodeling Enzymes in Melanoma.Epigenomes · 2022Review
- Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases.Virchows Archiv : an international journal of pathology · 2022Article
- Emerging Roles and Mechanisms of lncRNA FOXD3-AS1 in Human Diseases.Frontiers in oncology · 2022Review
- Impact of molecular testing in advanced melanoma on outcomes in a tertiary cancer center and as reported in a publicly available database.Cancer reports (Hoboken, N.J.) · 2021Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The most common histological subtypes of cutaneous melanoma include superficial spreading and nodular melanoma. However, the spectrum of somatic mutations developed in those lesions and all potential druggable targets have not yet been fully elucidated. We present the results of a sequence capture NGS analysis of 114 primary nodular and superficial spreading melanomas identifying driver mutations using biostatistical, immunohistochemical and/or functional approach. The spectrum and frequency of pathogenic or likely pathogenic variants were identified across 54 evaluated genes, including 59 novel mutations, and the newly identified TP53 loss-of-function mutations p.(L194P) and p.(R280K). Frequently mutated genes most commonly affected the MAPK pathway, followed by chromatin remodeling, and cell cycle regulation. Frequent aberrations were also detected in the genes coding for proteins involved in DNA repair and the regulation and modification of cellular tight junctions. Furthermore, relatively frequent mutations were described in KDR and MET, which represent potential clinically important targets. Those results suggest that with the development of new therapeutic possibilities, not only BRAF testing, but complex molecular testing of cutaneous melanoma may become an integral part of the decision process concerning the treatment of patients with melanoma.
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