PMID- 23800576 OWN - NLM STAT- MEDLINE DCOM- 20140408 LR - 20231213 IS - 1943-7811 (Electronic) IS - 1525-1578 (Linking) VI - 15 IP - 5 DP - 2013 Sep TI - A genome-wide high-resolution array-CGH analysis of cutaneous melanoma and comparison of array-CGH to FISH in diagnostic evaluation. PG - 581-91 LID - S1525-1578(13)00092-5 [pii] LID - 10.1016/j.jmoldx.2013.04.001 [doi] AB - 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 be a useful diagnostic method for evaluation of melanocytic proliferations. We investigated the array-based comparative genomic hybridization (aCGH) platform for DNA copy number analysis of formalin-fixed, paraffin-embedded (FFPE) tissues in melanocytic tumors and compared aCGH analysis with fluorescence in situ hybridization (FISH) assays in diagnosis of melanoma. aCGH findings and FISH results were interpreted independently in a blinded fashion. Positive findings were not noted in any benign nevi at aCGH analysis, whereas substantial unbalanced genomic aberrations were revealed in 92% of melanomas. Positive results were obtained in 72% of melanomas via the four-probe FISH assay (RREB1/MYB/CEP6/CCND1). A few additional FISH studies were performed to verify some aCGH findings of focal amplification of oncogenes and homozygous deletion of tumor suppressor genes. The overall concordance in aberrations detected using the two methods was 90%. Most discrepancies were due to a minor abnormal clone identified via FISH that was below analytical sensitivity of the FFPE aCGH test. Our study demonstrated that copy number analysis of FFPE tumor samples via aCGH is a robust and reliable method in diagnosis of melanoma and that aCGH and FISH tests should be used as complementary methods to improve the accuracy of genetic evaluation of melanocytic tumors. CI - Copyright (c) 2013 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved. FAU - Wang, Lu AU - Wang L AD - Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA. wangL1@mskcc.org FAU - Rao, Mamta AU - Rao M FAU - Fang, Yuqiang AU - Fang Y FAU - Hameed, Meera AU - Hameed M FAU - Viale, Agnes AU - Viale A FAU - Busam, Klaus AU - Busam K FAU - Jhanwar, Suresh C AU - Jhanwar SC LA - eng PT - Journal Article DEP - 20130622 PL - United States TA - J Mol Diagn JT - The Journal of molecular diagnostics : JMD JID - 100893612 SB - IM MH - Algorithms MH - *Comparative Genomic Hybridization/methods/standards MH - Genetic Variation MH - Genome-Wide Association Study/methods/standards MH - Humans MH - *In Situ Hybridization, Fluorescence/methods/standards MH - Melanoma/*diagnosis/genetics/pathology MH - Sensitivity and Specificity MH - Skin Neoplasms MH - Melanoma, Cutaneous Malignant EDAT- 2013/06/27 06:00 MHDA- 2014/04/09 06:00 CRDT- 2013/06/27 06:00 PHST- 2012/10/18 00:00 [received] PHST- 2013/02/28 00:00 [revised] PHST- 2013/04/02 00:00 [accepted] PHST- 2013/06/27 06:00 [entrez] PHST- 2013/06/27 06:00 [pubmed] PHST- 2014/04/09 06:00 [medline] AID - S1525-1578(13)00092-5 [pii] AID - 10.1016/j.jmoldx.2013.04.001 [doi] PST - ppublish SO - J Mol Diagn. 2013 Sep;15(5):581-91. doi: 10.1016/j.jmoldx.2013.04.001. Epub 2013 Jun 22.