Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group

Publication date: Available online 6 October 2018Source: Cancer GeneticsAuthor(s): Xinjie Xu, Christine Bryke, Madina Sukhanova, Emma Huxley, D.P. Dash, Amanda Dixon-Mciver, Min Fang, Patricia T. Griepp, Jennelle C. Hodge, Anwar Iqbal, Sally Jeffries, Rashmi Kanagal-Shamanna, Fabiola Quintero-Rivera, Shashi Shetty, Marilyn L. Slovak, Ashwini Yenamandra, Patrick A. Lennon, Gordana RacaAbstractStructural genomic abnormalities, including balanced chromosomal rearrangements, copy number gains and losses and copy-neutral loss-of-heterozygosity (CN-LOH) represent an important category of diagnostic, prognostic and therapeutic markers in acute myeloid leukemia (AML). Genome-wide evaluation for copy number abnormalities (CNAs) is at present performed by karyotype analysis which has low resolution and is unobtainable in a subset of cases. Furthermore, examination for possible CN-LOH in leukemia cells is at present not routinely performed in the clinical setting. Chromosomal microarray (CMA) analysis is a widely available assay for CNAs and CN-LOH in diagnostic laboratories, but there are currently no guidelines how to best incorporate this technology into clinical testing algorithms for neoplastic diseases including AML. The Cancer Genomics Consortium Working Group for Myeloid Neoplasms performed an extensive review of peer-reviewed publications focused on CMA analysis in AML. Here we summarize evidence regarding clinical utility of CMA analysis in AML extracted from published data, a...
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research