Integrative cytogenetic and molecular studies unmask "chromosomal mimicry" in hematologic malignancies.

ABSTRACT:

Abstract

The detection of structural variants (SVs) represents a critical component in the diagnostic evaluation and treatment of many hematologic malignancies. Although clinical SV testing mainly consists of traditional cytogenetic methodologies, technological innovations have led to alternative approaches with improved resolution. In this study, we sought to characterize the clinical impact of targeted RNA sequencing on the diagnosis of myeloid and immature lymphoid malignancies. Across a cohort (n = 380) of myeloid (87%) and immature lymphoid (13%) tumors, we compared SVs detected by chromosome banding analysis (CBA) and fusion events detected by anchored multiplex polymerase chain reaction (AMP)-targeted RNA sequencing. Variants detected by either assay were categorized using a

SUBMITTER: Zhao M 

PROVIDER: S-EPMC11907439 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature