Unveiling Cryptic <i>BCR-ABL1</i> Rearrangements: Diagnostic Challenges and Clinical Impact in Myeloid Malignancies.

ABSTRACT: Chromosomal BCR-ABL1 fusions are the defining molecular lesions of chronic myeloid leukemia (CML) and Philadelphia-positive acute lymphoblastic leukemia, and are rarely observed in acute myeloid leukemia. Their detection have transformed treatment paradigms by enabling effective use of specific tyrosine kinase inhibitors (TKIs). Although many BCR-ABL1 rearrangements are identified by standard cytogenetics, a clinically relevant subset is cryptic and can escape detection. High-depth RNA sequencing assays have improved our capacity to detect expressed fusion transcripts. Here, we introduce two myeloid cases in which cryptic BCR-ABL1 rearrangements and precise breakpoints detection required an integrated molecular approach: we describe the initial diagnostic pitfalls, det

SUBMITTER: Ferrari A 

PROVIDER: S-EPMC12469688 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature