Optical Genome Mapping for Comprehensive Assessment of Chromosomal Aberrations and Discovery of New Fusion Genes in Pediatric B-Acute Lymphoblastic Leukemia.

ABSTRACT:

Purpose

To assess the potential added value of Optical Genomic Mapping (OGM) for identifying chromosomal aberrations.

Methods

We utilized Optical Genomic Mapping (OGM) to determine chromosomal aberrations in 46 children with B-cell Acute lymphoblastic leukemia ALL (B-ALL) and compared the results of OGM with conventional technologies. Partial detection results were verified by WGS and PCR.

Results

OGM showed a good concordance with conventional cytogenetic techniques in identifying the reproducible and pathologically significant genomic SVs. Two new fusion genes (LMNB1::PPP2R2B and TMEM272::KDM4B) were identified by OGM and verified by WGS and RT-PCR for the first time. OGM has a greater ability to detect complex chromosomal aberrations, re

SUBMITTER: Gao H 

PROVIDER: S-EPMC9817688 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature