A highly specific and discriminatory FISH assay for distinguishing between benign and malignant melanocytic neoplasms.

摘要: The diagnosis of certain melanocytic proliferations remains one the most challenging areas in pathology. In recent times, fluorescence situ hybridization (FISH) has emerged as a promising diagnostic aid to conventional microscopy. We previously showed that 4-probe FISH assay targeting 6p25 (RREB1), 6q23 (MYB), Cep6 (centromere 6), and 11q13 (CCND1) could discriminate between histologically unequivocal melanomas benign nevi with sensitivity 86.7% specificity 95.4%. However, is approximately 70% spitzoid morphology. Furthermore, differentiating true gains from tetraploidy may cause difficulties interpretation by inexperienced examiners. Here we refine current probe set better target more easily distinguish cells imbalanced copy number aberrations tetraploid cells. Using data 3 training sets 322 tumors, including 152 170 nevi, identified 9p21, 6p25, 11q13, 8q24 improved discriminatory power nevi. validation 51 this had 94% 98%, compared original 75% 96% same cohort. propose incorporating 9p21 into assay, new algorithm, would have neoplasms for detecting melanomas, demonstrated our previous studies.