Copy number variations in malignant melanoma: genomic regions, biomarkers, and therapeutic targets

Neoplasma. 2024 Apr;71(2):143-152. doi: 10.4149/neo_2024_240207N58.

Abstract

Malignant melanoma is a skin tumor arising from melanocytes, occurring mostly in predisposed individuals. Melanomas are frequently present with copy number variations (CNVs), i.e., gains or losses of specific DNA regions that have provided immense potential for disease diagnosis and classification. The methodology of CNV detection has revolutionized in past decades, and current high throughput technologies enable us to analyze the entire spectrum of CNV alterations at the whole genome scale. Thus, identifying novel CNV biomarkers and evaluating their applicability in biomedicine are becoming increasingly important. The aim of this review was to summarize copy number changes occurring in malignant melanomas. We made an overview of specific genes and chromosomal locations affected in sporadic and familial melanoma and also of known germline alterations in melanoma-prone families. We summarized genomic regions aberrant in malignant melanoma and highlighted those frequently discussed in the literature, suggesting 7q, 11q, 12q, 9p, and 1q, but also others, as the most affected ones.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor* / genetics
  • DNA Copy Number Variations*
  • Humans
  • Melanoma* / genetics
  • Melanoma* / pathology
  • Melanoma, Cutaneous Malignant
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology