Details

Autor(en) / Beteiligte

• Xu, Xinjie
• Bryke, Christine
• Sukhanova, Madina
• Huxley, Emma
• Dash, D.P.
• Dixon-Mciver, Amanda
• Fang, Min
• Griepp, Patricia T.
• Hodge, Jennelle C.
• Iqbal, Anwar
• Jeffries, Sally
• Kanagal-Shamanna, Rashmi
• Quintero-Rivera, Fabiola
• Shetty, Shashi
• Slovak, Marilyn L.
• Yenamandra, Ashwini
• Lennon, Patrick A.
• Raca, Gordana

Titel

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group

Ist Teil von

• Cancer genetics, 2018-12, Vol.228-229, p.218-235

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2018

Link zum Volltext

Quelle

Elsevier ScienceDirect Journals Complete

Beschreibungen/Notizen

• •Genome-wide assessment for copy number aberrations (CNAs) and copy-neutral loss-of-heterozygosity (CN-LOH) allows better diagnostic precision, detects prognostic markers and informs treatment decisions for acute myeloid leukemia (AML).•Chromosomal microarray (CMA) currently represents a clinically applicable and widely available assay that allows genome-wide assessment for CNAs and CN-LOH with increased detection rate in AML patients compared with conventional cytogenetic testing including karyotype and Fluorescence in situ hybridization (FISH).•Evidence from published research and clinical studies supports the use of CMA testing for patients with AML negative for cytogenetic and molecular high-risk markers (intermediate risk), AML with unobtainable or inadequate cytogenetic results, AML with unusual morphologic and immunophenotypic features, and refractory and relapsed AML. Structural genomic abnormalities, including balanced chromosomal rearrangements, copy number gains and losses and copy-neutral loss-of-heterozygosity (CN-LOH) represent an important category of diagnostic, prognostic and therapeutic markers in acute myeloid leukemia (AML). Genome-wide evaluation for copy number abnormalities (CNAs) is at present performed by karyotype analysis which has low resolution and is unobtainable in a subset of cases. Furthermore, examination for possible CN-LOH in leukemia cells is at present not routinely performed in the clinical setting. Chromosomal microarray (CMA) analysis is a widely available assay for CNAs and CN-LOH in diagnostic laboratories, but there are currently no guidelines how to best incorporate this technology into clinical testing algorithms for neoplastic diseases including AML. The Cancer Genomics Consortium Working Group for Myeloid Neoplasms performed an extensive review of peer-reviewed publications focused on CMA analysis in AML. Here we summarize evidence regarding clinical utility of CMA analysis in AML extracted from published data, and provide recommendations for optimal utilization of CMA testing in the diagnostic workup. In addition, we provide a list of CNAs and CN-LOH regions which have documented clinical significance in diagnosis, prognosis and treatment decisions in AML.