Assessing Copy Number Aberrations and Copy Neutral Loss of Heterozygosity Across the Genome as Best Practice: An Evidence Based Review of Clinical Utility from the Cancer Genomics Consortium (CGC) Working Group for Myelodysplastic Syndrome, Myelodysplastic/Myeloproliferative and Myeloproliferative Neoplasms

Publication date: Available online 10 October 2018Source: Cancer GeneticsAuthor(s): Rashmi Kanagal-Shamanna, Jennelle C. Hodge, Tracy Tucker, Shashi Shetty, Ashwini Yenamandra, Amanda Dixon-McIver, Christine Bryke, Emma Huxley, Patrick A. Lennon, Gordana Raca, Xinjie Xu, Sally Jeffries, Fabiola Quintero-Rivera, Patricia T. Greipp, Marilyn L. Slovak, M. Anwar Iqbal, Min FangAbstractMultiple 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 neoplas...
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research