The extent of whole-genome copy number alterations predicts aggressive features in primary melanomas

Greta Gandolfi, Caterina Longo, Elvira Moscarella, Iris Zalaudek, Valentina Sancisi, Margherita Raucci, Gloria Manzotti, Mila Gugnoni, Simonetta Piana, Giuseppe Argenziano, Alessia Ciarrocchi

Research output: Contribution to journalArticlepeer-review


Recent evidence indicates that melanoma comprises distinct types of tumors and suggests that specific morphological features may help predict its clinical behavior. Using a SNP-array approach, we quantified chromosomal copy number alterations (CNA) across the whole genome in 41 primary melanomas and found a high degree of heterogeneity in their genomic asset. Association analysis correlating the number and relative length of CNA with clinical, morphological, and dermoscopic attributes of melanoma revealed that features of aggressiveness were strongly linked to the overall amount of genomic damage. Furthermore, we observed that melanoma progression and survival were mainly affected by a low number of large chromosome losses and a high number of small gains. We identified the alterations most frequently associated with aggressive melanoma, and by integrating our data with publicly available gene expression profiles, we identified five genes which expression was found to be necessary for melanoma cells proliferation. In conclusion, this work provides new evidence that the phenotypic heterogeneity of melanoma reflects a parallel genetic diversity and lays the basis to define novel strategies for a more precise prognostic stratification of patients.

Original languageEnglish
Pages (from-to)163-175
Number of pages13
JournalPigment Cell and Melanoma Research
Issue number2
Publication statusPublished - Mar 1 2016


  • Aggressiveness
  • Copy number alterations
  • Dermoscopy
  • Primary melanoma
  • Whole-genome SNP array

ASJC Scopus subject areas

  • Dermatology
  • Oncology
  • Biochemistry, Genetics and Molecular Biology(all)


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