TERT and AURKA Gene Copy Number Gains Enhance the Detection of Acral Lentiginous Melanomas by Fluorescence in Situ Hybridization

摘要: The study of specific chromosomal loci through fluorescence in situ hybridization (FISH) is useful differential diagnosis melanocytic tumors. However, sensitivity rates vary, probably because molecular heterogeneity. Acral lentiginous melanomas are characterized by copy number gains small genomic regions, including CCND1, TERT, and AURKA. In a series 58 acral lesions, we explored the value four-color FISH probe, used addition to determining MYC gene status, assessed potential diagnostic usefulness newly developed probes targeting TERT Moreover, tested AURKA protein expression immunohistochemistry. probe detected 85.3% 29.4% gains. Sensitivity was 97% (confidence interval 95%, 82.9% 99.8%) for combined results all probes. No were detected. nevi showed aberrations. Immunohistochemistry revealed higher percentage cells positive than (P ≤ 0.001). A significant correlation between gain found CCND1 (P = 0.015). Our indicate that current could improve melanomas. Further studies larger numbers cases needed validate these results.