Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute my... - PubMed - NCBI

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute my... - PubMed - NCBI

Cancer Genet. 2018 Oct 6. pii: S2210-7762(18)30055-3. doi: 10.1016/j.cancergen.2018.07.005. [Epub ahead of print]

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.

Xu X1, Bryke C2, Sukhanova M3, Huxley E4, Dash DP5, Dixon-Mciver A6, Fang M7, Griepp PT8, Hodge JC9, Iqbal A10, Jeffries S4, Kanagal-Shamanna R11, Quintero-Rivera F12, Shetty S13, Slovak ML14, Yenamandra A15, Lennon PA16, Raca G17.

Author information

Abstract

Structural 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, and provide recommendations for optimal utilization of CMA testing in the diagnostic workup. In addition, we provide a list of CNAs and CN-LOH regions which have documented clinical significance in diagnosis, prognosis and treatment decisions in AML.

KEYWORDS:

acute myeloid leukemia; chromosomal microarray (CMA); copy number abnormalities (CNAs); copy-neutral loss of heterozygosity (CN-LOH)

PMID:

 

30344013

 

DOI:

 

10.1016/j.cancergen.2018.07.005