Uncovering the <i>PML::RARA</i> Fusion in Cytogenetically Cryptic and FISH-Negative Acute Promyelocytic Leukemia-A Case Report and Comprehensive Literature Review.

ABSTRACT: The PML::RARA fusion resulting from t(15;17) is the genetic hallmark of acute promyelocytic leukemia (APL), typically detected by cytogenetics and/or fluorescence in situ hybridization (FISH) studies. Rarely, APL patients present with normal cytogenetics and FISH findings, complicating diagnosis and delaying life-saving therapy. We report a 23-year-old male with clinical, morphologic and immunophenotypic features consistent with APL but negative for FISH studies. Despite prompt initiation of all-trans retinoic acid (ATRA) based on clinical suspicion, the patient succumbed to intracranial hemorrhage. Quantitative reverse transcriptase PCR (qRT-PCR) confirmed a long isoform PML::RARA fusion. A review of 34 published cytogenetics- and FISH-negative cases since 1995 demonstrates

SUBMITTER: Delikkaya BN 

PROVIDER: S-EPMC12564908 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature