ArticleJournal of translational medicine2019
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Article in Journal of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Genetic Concordance in Primary Cutaneous Melanoma and Matched Metastasis: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2023Pooled it
- The tumoural landscape of lymphocytes and immune pathways in immunotherapy-treated melanoma patients.Genes and immunity · 2026Article
- Clinical, Histopathological, Dermoscopic Features, andCancers · 2025Article
- Identification of genetic fingerprint of type I interferon therapy in visceral metastases of melanoma.Scientific reports · 2024Article
- Cancer, metastasis, and the epigenome.Molecular cancer · 2024Review
- Article
- Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.Diagnostics (Basel, Switzerland) · 2024Article
- Integrating generative AI with ABCDE rule analysis for enhanced skin cancer diagnosis, dermatologist training and patient education.Frontiers in medicine · 2024Article
- Differences in the Clinical and Molecular Profiles of Subungual Melanoma and Acral Melanoma in Asian Patients.Cancers · 2023Article
- Review
- Article
- Oncogenic alterations reveal key strategies for precision oncology in melanoma treatment.Annals of translational medicine · 2022Article
- Tissue Displacement Versus Two Primary Colorectal Carcinomas? A Case Report on the Utility of Comparative Sequencing.JCO precision oncology · 2022Article
- Recommendations for the Use of Next-Generation Sequencing and the Molecular Tumor Board for Patients with Advanced Cancer: A Report from KSMO and KCSG Precision Medicine Networking Group.Cancer research and treatment · 2022Article
- Article
- Detection and Localization of Solid Tumors Utilizing the Cancer-Type-Specific Mutational Signatures.Frontiers in bioengineering and biotechnology · 2022Article
- Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era.Diagnostics (Basel, Switzerland) · 2021Article
- TheJournal of personalized medicine · 2021Article
- The Genetic Evolution of Treatment-Resistant Cutaneous, Acral, and Uveal Melanomas.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Molecular Epidemiology of the Main Druggable Genetic Alterations in Non-Small Cell Lung Cancer.International journal of molecular sciences · 2021Review
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCutaneous malignant melanoma (CMM) is one of the most common skin cancers worldwide. Limited information is available in the current scientific literature on the concordance of genetic alterations between primary and metastatic CMM. In the present study, we performed next-generation sequencing (NGS) analysis of the main genes participating in melanoma pathogenesis and progression, among paired primary and metastatic lesions of CMM patients, with the aim to evaluate levels of discrepancies in mutational patterns.
methodsParaffin-embedded tumor tissues of the paired lesions were retrieved from the archives of the institutions participating in the study. NGS was performed using a specific multiple-gene panel constructed by the Italian Melanoma Intergroup (IMI) to explore the mutational status of selected regions (343 amplicons; amplicon range: 125-175 bp; coverage 100%) within the main 25 genes involved in CMM pathogenesis; sequencing was performed with the Ion Torrent PGM System.
resultsA discovery cohort encompassing 30 cases, and a validation cohort including eleven Sardinian patients with tissue availability from both the primary and metachronous metastatic lesions were identified; the global number of analyzed tissue specimens was 90. A total of 829 genetic non-synonymous variants were detected: 101 (12.2%) were pathogenic/likely pathogenic, 131 (15.8%) were benign/likely benign, and the remaining 597 (72%) were uncertain/unknown significance variants. Considering the global cohort, the consistency in pathogenic/pathogenic like mutations was 76%. Consistency for BRAF and NRAS mutations was 95.2% and 85.7% respectively, without statistically significant differences between the discovery and validation cohort.
conclusionsOur study showed a high level of concordance in mutational patterns between primary and metastatic CMM, especially when pathogenic mutations in driver genes were considered.
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