Liu Yuchen, Ning Yi, Ghiaur Gabriel, Emadi Ashkan
Division of Hematology/Oncology, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA,
University of Maryland Greenebaum Comprehensive Cancer Center, Baltimore, Maryland, USA,
Acta Haematol. 2025;148(1):111-118. doi: 10.1159/000539159. Epub 2024 May 31.
Acute promyelocytic leukemia (APL) is genetically characterized by the fusion of promyelocytic leukemia (PML) gene with retinoic acid receptor alpha (RARα) resulting from a t(15;17)(q24;q21) chromosomal translocation. An infrequent but recurrent finding in APL is the formation of an isochromosome of the derivative chromosome 17; ider(17)(q10)t(15;17) or ider(17q). This rearrangement in APL results in an additional copy of the PML-RARα fusion gene as well as loss of 17p/TP53. Due to the infrequent occurrence of the ider(17q), the prognostic impact of this genetic finding is not well known. Case Presentation(s): Here, we describe the clinical characteristics and outcomes of our case series of 5 patients with ider(17q) APL treated at the University of Maryland and Johns Hopkins University.
In our series, patients with APL with ider(17q) did not have a worse prognosis.