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
| Autor: | Xinjie Xu, Emma Huxley, Sally Jeffries, Amanda Dixon-McIver, Min Fang, Tracy Tucker, Gordana Raca, Patrick A. Lennon, M. Anwar Iqbal, Marilyn L. Slovak, Patricia T. Greipp, Jennelle C. Hodge, Rashmi Kanagal-Shamanna, Ashwini Yenamandra, Fabiola Quintero-Rivera, Christine R. Bryke, Shashi Shetty |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Oncology Cancer Research medicine.medical_specialty Myeloid DNA Copy Number Variations Loss of Heterozygosity Genomics Gene mutation Biology Loss of heterozygosity 03 medical and health sciences 0302 clinical medicine Internal medicine Genetics medicine Humans Clinical significance Molecular Biology Myeloproliferative neoplasm Myeloproliferative Disorders business.industry Cancer medicine.disease 030104 developmental biology medicine.anatomical_structure Myelodysplastic Syndromes 030220 oncology & carcinogenesis Personalized medicine business |
| Zdroj: | Cancer Genetics. :197-217 |
| ISSN: | 2210-7762 |
| DOI: | 10.1016/j.cancergen.2018.07.003 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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