作者: Lu Wang , Mamta Rao , Yuqiang Fang , Meera Hameed , Agnes Viale
DOI: 10.1016/J.JMOLDX.2013.04.001
关键词: Fluorescence in situ hybridization 、 Comparative genomic hybridization 、 Pathology 、 Cutaneous melanoma 、 Bioinformatics 、 Melanoma 、 Concordance 、 Copy number analysis 、 Genome 、 clone (Java method) 、 Biology
摘要: Benign melanocytic nevi and cutaneous melanomas can be difficult to differentiate by means of routine microscopic analysis. Recent evidence has suggested that cytogenomic analysis may a useful diagnostic method for evaluation proliferations. We investigated the array-based comparative genomic hybridization (aCGH) platform DNA copy number formalin-fixed, paraffin-embedded (FFPE) tissues in tumors compared aCGH with fluorescence situ (FISH) assays diagnosis melanoma. findings FISH results were interpreted independently blinded fashion. Positive not noted any benign at analysis, whereas substantial unbalanced aberrations revealed 92% melanomas. obtained 72% via four-probe assay (RREB1/MYB/CEP6/CCND1). A few additional studies performed verify some focal amplification oncogenes homozygous deletion tumor suppressor genes. The overall concordance detected using two methods was 90%. Most discrepancies due minor abnormal clone identified below analytical sensitivity FFPE test. Our study demonstrated samples is a robust reliable melanoma tests should used as complementary improve accuracy genetic tumors.