Subungual melanoma and atypical lentiginous melanocytic proliferations: New insights for the use of molecular analyses

In the study, researchers investigated acral melanomas, particularly subungual melanomas (SUM), which are primarily characterized by whole genome copy number variations (CNV) such as amplifications, gains, and losses. Previous research has utilized various cytogenetic or molecular analyses ranging from targeted methods focused on specific genes to comprehensive whole genome and whole transcriptome sequencing techniques. To differentiate between malignant and benign lesions, fluorescence in situ hybridization (FISH) methods have been commonly employed, utilizing probes targeting genes like CCND1, RREB1, MYB, CDKN2A, or MYC either individually or in combination.In this study a Comparative Genomic Hybridization on array (array-CGH) was performed to detect whole genome CNV. This approach aimed to improve the classification of malignant and benign lesions in a cohort consisting of 31 SUM cases and 8 subungual lentiginous melanocytic proliferations with or without atypia. The study employed a Comparative Genomic Hybridization on array (array-CGH) methodology to identify whole genome copy number variations (CNV) within a cohort comprising 31 cases of subungual melanomas (SUM) and 8 cases of subungual lentiginous melanocytic proliferations, with or without atypia. Please note that CGH/SNP-array showed CNA only in 14 samples of SUM. For the remaining cases, no quantitative abnormalities have been detected, and therefore they are not included in the records.