Clinical Applications of Chromosomal Microarray Testing in Myeloid Malignancies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Oncology,Hematology
Link
https://link.springer.com/content/pdf/10.1007/s11899-020-00578-1.pdf
Reference78 articles.
1. Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, et al. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017;18(1):147.
2. •• Kanagal-Shamanna R, Hodge JC, Tucker T, Shetty S, Yenamandra A, Dixon-McIver A, et al. 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. Cancer Genet. 2018;228-229:197–217. Comprehensive evidence-based review showing clinical utility of CNAs and CN-LOH in MDS, MDS/MPN and MPN from the Cancer Genomics Consortium Working Group on Myeloid Malignancies. The authors provide a comprehensive summary of the clinically relevant CNA(s) and CN-LOH based on published literature and a list of clinical scenarios where chromosomal microarray (CMA)/ chromosome genomic array testing (CGAT) testing can provide additional information that could potentially affect management. The authors also provide an example of an algorithmic approach for testing in clinical laboratories. Based on the evidence, revised NCCN guidelines for MDS (2.2020) recommends CMA/ CGAT testing when karyotype fails. In addition, CMA/CGAT is to be considered if karyotype is normal or in MDS/MPN and BCR/ABL1 negative MPN for detection of CN-LOH.
3. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. NPJ Genom Med. 2016;1(1):1–9.
4. Rusch M, Nakitandwe J, Shurtleff S, Newman S, Zhang Z, Edmonson MN, et al. Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. Nat Commun. 2018;9(1):1–13.
5. Shen W, Paxton CN, Szankasi P, Longhurst M, Schumacher JA, Frizzell KA, et al. Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing. J Clin Pathol. 2018;71(4):372–8.
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