+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

A genome-wide high-resolution array-CGH analysis of cutaneous melanoma and comparison of array-CGH to FISH in diagnostic evaluation

A genome-wide high-resolution array-CGH analysis of cutaneous melanoma and comparison of array-CGH to FISH in diagnostic evaluation

Journal of Molecular Diagnostics 15(5): 581-591

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.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 051140367

Download citation: RISBibTeXText

PMID: 23800576

DOI: 10.1016/j.jmoldx.2013.04.001

Related references

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of aCGH to FISH in Diagnostic Evaluation. The Journal of Molecular Diagnostics, 2013

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans. Bmc Genomics 18(1): 321, 2017

Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array. Investigative Ophthalmology and Visual Science 56(6): 4156-4165, 2015

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms. Plos one 6(11): E27859, 2011

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes and Cancer 48(10): 897-907, 2009

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis. Molecular Cytogenetics 7(1): 6, 2014

Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate. Journal of Clinical Laboratory Analysis 2018:, 2018

High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration. Leukemia (Basingstoke) 20(5): 840-846, 2006

Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array. Prenatal Diagnosis 34(9): 858-863, 2014

Three gangliogliomas: results of GTG-banding, SKY, genome-wide high resolution SNP-array, gene expression and review of the literature. Neuropathology 35(2): 148-157, 2015

Clinical Relevance of Plasma DNA Methylation in Colorectal Cancer Patients Identified by Using a Genome-Wide High-Resolution Array. Annals of Surgical Oncology 22(Suppl. 3): S1419-S1427, 2015

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma. Human Pathology 40(11): 1628-1637, 2009

Prenatal diagnosis of chromosomal aberrations in fetuses with conotruncal heart defects by genome-wide high-resolution SNP array. Journal of Maternal-Fetal and Neonatal Medicine 2018: 1-7, 2018

Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization study. Genes Chromosomes and Cancer 49(8): 733-745, 2010

Interface of an array of five capillaries with an array of one-nanoliter wells for high-resolution electrophoretic analysis as an approach to high-throughput chemical cytometry. Analytical Chemistry 80(19): 7631-7634, 2008