TY - JOUR
T1 - Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice
T2 - An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms
AU - Kanagal-Shamanna, Rashmi
AU - Hodge, Jennelle C.
AU - Tucker, Tracy
AU - Shetty, Shashi
AU - Yenamandra, Ashwini
AU - Dixon-McIver, Amanda
AU - Bryke, Christine
AU - Huxley, Emma
AU - Lennon, Patrick A.
AU - Raca, Gordana
AU - Xu, Xinjie
AU - Jeffries, Sally
AU - Quintero-Rivera, Fabiola
AU - Greipp, Patricia T.
AU - Slovak, Marilyn L.
AU - Iqbal, M. Anwar
AU - Fang, Min
N1 - Publisher Copyright:
© 2018
PY - 2018/12
Y1 - 2018/12
N2 - Multiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of-heterozygosity (CN-LOH) in myeloid malignancies. However, guidelines for integrating CMA as a standard practice for diagnostic evaluation, assessment of prognosis and predicting treatment response are still lacking. CMA has not been recommended for clinical work-up of myeloid malignancies by the WHO 2016 or the NCCN 2017 guidelines but is a suggested test by the European LeukaemiaNet 2013 for the diagnosis of primary myelodysplastic syndrome (MDS). The Cancer Genomics Consortium (CGC) Working Group for Myeloid Neoplasms systematically reviewed peer-reviewed literature to determine the power of CMA in (1) improving diagnostic yield, (2) refining risk stratification, and (3) providing additional genomic information to guide therapy. In this manuscript, we summarize the evidence base for the clinical utility of array testing in the workup of MDS, myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and myeloproliferative neoplasms (MPN). This review provides a list of recurrent CNAs and CN-LOH noted in this disease spectrum and describes the clinical significance of the aberrations and how they complement gene mutation findings by sequencing. Furthermore, for new or suspected diagnosis of MDS or MPN, we present suggestions for integrating genomic testing methods (CMA and mutation testing by next generation sequencing) into the current standard-of-care clinical laboratory testing (karyotype, FISH, morphology, and flow).
AB - Multiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of-heterozygosity (CN-LOH) in myeloid malignancies. However, guidelines for integrating CMA as a standard practice for diagnostic evaluation, assessment of prognosis and predicting treatment response are still lacking. CMA has not been recommended for clinical work-up of myeloid malignancies by the WHO 2016 or the NCCN 2017 guidelines but is a suggested test by the European LeukaemiaNet 2013 for the diagnosis of primary myelodysplastic syndrome (MDS). The Cancer Genomics Consortium (CGC) Working Group for Myeloid Neoplasms systematically reviewed peer-reviewed literature to determine the power of CMA in (1) improving diagnostic yield, (2) refining risk stratification, and (3) providing additional genomic information to guide therapy. In this manuscript, we summarize the evidence base for the clinical utility of array testing in the workup of MDS, myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and myeloproliferative neoplasms (MPN). This review provides a list of recurrent CNAs and CN-LOH noted in this disease spectrum and describes the clinical significance of the aberrations and how they complement gene mutation findings by sequencing. Furthermore, for new or suspected diagnosis of MDS or MPN, we present suggestions for integrating genomic testing methods (CMA and mutation testing by next generation sequencing) into the current standard-of-care clinical laboratory testing (karyotype, FISH, morphology, and flow).
KW - Copy neutral loss of heterozygosity
KW - Copy number aberrations
KW - Microarray
KW - Myelodysplastic syndrome
KW - Myeloproliferative neoplasm
KW - Next-generation sequencing
UR - http://www.scopus.com/inward/record.url?scp=85055656877&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85055656877&partnerID=8YFLogxK
U2 - 10.1016/j.cancergen.2018.07.003
DO - 10.1016/j.cancergen.2018.07.003
M3 - Review article
C2 - 30377088
AN - SCOPUS:85055656877
SN - 2210-7762
VL - 228-229
SP - 197
EP - 217
JO - Cancer Genetics
JF - Cancer Genetics
ER -