Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.

ABSTRACT:

Background

Genomic analysis is essential for risk stratification in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). Whole-genome sequencing is a potential replacement for conventional cytogenetic and sequencing approaches, but its accuracy, feasibility, and clinical utility have not been demonstrated.

Methods

We used a streamlined whole-genome sequencing approach to obtain genomic profiles for 263 patients with myeloid cancers, including 235 patients who had undergone successful cytogenetic analysis. We adapted sample preparation, sequencing, and analysis to detect mutations for risk stratification using existing European Leukemia Network (ELN) guidelines and to minimize turnaround time. We analyzed the performance of whole-genome sequencing by

SUBMITTER: Duncavage EJ 

PROVIDER: S-EPMC8130455 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature