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

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 Raca*

*Corresponding author for this work

Research output: Contribution to journalReview article

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)218-235
Number of pages18
JournalCancer Genetics
Volume228-229
DOIs
StatePublished - Dec 2018

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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    Xu, X., Bryke, C., Sukhanova, M., Huxley, E., Dash, D. P., Dixon-Mciver, A., Fang, M., Griepp, P. T., Hodge, J. C., Iqbal, A., Jeffries, S., Kanagal-Shamanna, R., Quintero-Rivera, F., Shetty, S., Slovak, M. L., Yenamandra, A., Lennon, P. A., & Raca, G. (2018). 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. Cancer Genetics, 228-229, 218-235. https://doi.org/10.1016/j.cancergen.2018.07.005