Retrospective analysis evaluates copy-neutral events in malignancies, suggesting CMA is crucial despite OGM advancements.
Key Points
This study aims to assess the necessity of chromosomal microarray analysis (CMA) for detecting copy-neutral events in cancer diagnostics when comparing it to optical genome mapping (OGM).
Retrospective review of 53 primary neoplastic cases identified with CN-LOH via CMA from a cohort of 327 hematologic specimens.
Assessment of event size, genomic content, and correlation with next-generation sequencing findings was conducted.
Analysis of newly diagnosed B-cell acute lymphoblastic leukemia (B-ALL) for CN-LOH frequency.
Nearly 50% of CN-LOH events were detected below the OGM detection threshold of 25 Mb, including clinically significant genes such as FLT3 and TP53.
Two-thirds of cases with CN-LOH contained pathogenic variants identified by NGS.
CN-LOH was infrequent in B-ALL, and most alterations were detectable by OGM, highlighting CMA's ongoing relevance in certain contexts.