Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.

ABSTRACT:

Objective

Acute myeloid leukemia (AML) can be subtyped based on recurrent cytogenetic and molecular genetic abnormalities with diagnostic and prognostic significance. Although cytogenetic characterization classically involves conventional chromosome and/or fluorescence in situ hybridization (FISH) assays, limitations of these techniques include poor resolution and the inability to precisely identify breakpoints.

Method

We evaluated whether an NGS-based methodology that detects structural abnormalities and copy number changes using mate pair sequencing (MPseq) can enhance the diagnostic yield for patients with AML.

Results

Using 68 known abnormal and 20 karyotypically normal AML samples, each recurrent primary AML-specific abnormality previously identified in the abnor

SUBMITTER: Aypar U 

PROVIDER: S-EPMC7379948 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature