Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia
Year: 2023
Type: article
Abstract: Acute myeloid leukemia (AML) can be classified into multiple genetic subtypes based on recurrent pathogenic structural variants (SVs), copy number abnormalities (CNAs), and single nucleotide variants (SNVs) that inform prognostication and clinical management [ 1 , 2 ]. Karyotype analysis is considered mandatory in the evaluation of AML. If karyotype analysis fails, fluorescence in situ hybridization (FISH) can be used as an alternative technique per ELN 2022 [ 2 ]. Recent reports have proposed whole genome sequencing (WGS) as an alternative methodology to karyotyping and FISH [ 3 , 4 ]. MPseq is one example of a WGS technique optimized for the detection of genome-wide SVs and CNAs [ 5 ]. However, previous studies have not directly assessed the prognostic utility of WGS approaches in identifying genetic abnormalities above gold-standard cytogenetic approaches within an unbiased, prospective setting.
Source: Blood Cancer Journal
Authors: Beth A. Pitel, Cinthya Zepeda-Mendoza, Zohar Sachs, Hongwei Tang, Suganti Shivaram, Neeraj Sharma, James B. Smadbeck, Stephanie A. Smoley, Kathryn E. Pearce, Ivy M. Luoma, Joselle Cook, Mark R. Litzow, Nicole L. Hoppman, David Viswanatha, Xinjie Xu, Rhett P. Ketterling, Patricia T. Greipp, Jess F. Peterson, Linda B. Baughn
Institutions: Mayo Clinic, University of Minnesota, Masonic Cancer Center
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $4,790
OpenAlex ID: W4386480941