Details

Autor(en) / Beteiligte

• Kanagal-Shamanna, Rashmi
• Hodge, Jennelle C.
• Tucker, Tracy
• Shetty, Shashi
• Yenamandra, Ashwini
• Dixon-McIver, Amanda
• Bryke, Christine
• Huxley, Emma
• Lennon, Patrick A.
• Raca, Gordana
• Xu, Xinjie
• Jeffries, Sally
• Quintero-Rivera, Fabiola
• Greipp, Patricia T.
• Slovak, Marilyn L.
• Iqbal, M. Anwar
• Fang, Min

Titel

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

Ist Teil von

• Cancer genetics, 2018-12, Vol.228-229, p.197-217

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2018

Link zum Volltext

Quelle

Elsevier ScienceDirect Journals

Beschreibungen/Notizen

• Assessment of clinically significant copy number alterations (CNAs) and copy-neutral loss-of-heterozygosity (CN-LOH) in myeloid malignancies by chromosomal microarray (CMA) can improve diagnostic yield, refine risk-stratification and provide genomic information to guide therapy. The Cancer Genomics Consortium (CGC) Working Group for Myeloid Neoplasms performed an extensive systematic examination of the peer-reviewed literature to evaluate the clinical value of CMA in the workup of myelodysplastic syndrome (MDS), myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and myeloproliferative neoplasms (MPN). This evidence based review provides:1.Specific clinical scenarios where CMA complements other standard-of-care testing modalities2.An example of a testing algorithm incorporating CMA within the backbone of the current testing guidelines3.An exhaustive list of recurrent CNAs and CN-LOH observed in these myeloid neoplasms and their clinical significance. 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).