Acral melanoma (AM) is a rare and aggressive subtype of melanoma affecting the palms, soles, and nail apparatus with similar incidence among different ethnicities.,AM is unrelated to ultraviolet radiation and has a low mutation burden but frequent chromosomal rearrangements and gene amplifications.,Next generation sequencing of 33 genes and somatic copy number variation (CNV) analysis with genome-wide single nucleotide polymorphism arrays were performed in order to molecularly characterize 48 primary AMs of Italian patients in association with clinicopathological and prognostic features.,BRAF was the most commonly mutated gene, followed by NRAS and TP53, whereas TERT promoter, KIT, and ARID1A were less frequently mutated.,Gains and losses were recurrently found in the 1q, 6p, 7, 8q, 20 and 22 chromosomes involving PREX2, RAC1, KMT2C, BRAF, CCND1, TERT, and AKT3 genes, and in the 6q, 9, 10, 11q and 16q chromosomes including CDKN2A, PTEN, and ADAMTS18 genes, respectively.,This study confirmed the variety of gene mutations and the high load of CNV in primary AM.,Some genomic alterations were associated with histologic prognostic features.,BRAF mutations, found with a higher rate than previously reported, correlated with a low Breslow thickness, low mitotic count, low CNV of the AMs, and with early-stage of disease.
The aim of this study was to investigate the feasibility of using serum miR-221 as a noninvasive prognostic biomarker for cutaneous malignant melanoma (CMM).,We measured the expression levels of miR-221 in serum samples from 72 CMM patients and 54 healthy controls by real-time quantitative polymerase chain reaction (RT-PCR).,The overall survival (OS) and disease-free survival (DFS) were calculated using the Kaplan-Meier method.,The differences between the survival curves were tested by using the log-rank test.,The COX proportional hazards regression model was used to determine the joint effects of several variables on survival.,The serum miR-221 levels were significantly higher in patients with CMM than in healthy controls (p<0.0001).,Patients with high serum miR-221 levels had a significantly lower 5-year OS rate (22.1% vs.,54.6%; P=0.018) and RFS rate (12.5% vs.,45.2%; P=0.008) than those with low serum miR-221 level.,In a multivariate Cox model, we found that miR-221 expression was an independent predictor of poor 5-year OS (hazards ratio [HR]=3.189, 95% confidence interval [CI]=1.782-6.777, P=0.007) and 5-year DFS (HR=2.119, CI=1.962-8.552, P=0.01) in CMM patients.,Our data indicate that serum miR-221expression level has prognostic value in patients with CMM.