TY - JOUR
T1 - Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia
T2 - An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group
AU - Xu, Xinjie
AU - Bryke, Christine
AU - Sukhanova, Madina
AU - Huxley, Emma
AU - Dash, D. P.
AU - Dixon-Mciver, Amanda
AU - Fang, Min
AU - Griepp, Patricia T.
AU - Hodge, Jennelle C.
AU - Iqbal, Anwar
AU - Jeffries, Sally
AU - Kanagal-Shamanna, Rashmi
AU - Quintero-Rivera, Fabiola
AU - Shetty, Shashi
AU - Slovak, Marilyn L.
AU - Yenamandra, Ashwini
AU - Lennon, Patrick A.
AU - Raca, Gordana
N1 - Publisher Copyright:
© 2018
PY - 2018/12
Y1 - 2018/12
N2 - 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.
AB - 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.
KW - acute myeloid leukemia
KW - chromosomal microarray (CMA)
KW - copy number abnormalities (CNAs)
KW - copy-neutral loss of heterozygosity (CN-LOH)
UR - http://www.scopus.com/inward/record.url?scp=85055050313&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85055050313&partnerID=8YFLogxK
U2 - 10.1016/j.cancergen.2018.07.005
DO - 10.1016/j.cancergen.2018.07.005
M3 - Review article
C2 - 30344013
AN - SCOPUS:85055050313
SN - 2210-7762
VL - 228-229
SP - 218
EP - 235
JO - Cancer Genetics
JF - Cancer Genetics
ER -