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  • Title: Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases.
    Author: García-Romero A, González-Arreola RM, Borjas-Gutiérrez C, Magaña-Torres MT, González-García JR.
    Journal: Cytogenet Genome Res; 2022; 162(6):306-311. PubMed ID: 36724749.
    Abstract:
    Acute promyelocytic leukemia (APL) is characterized by the chromosomal translocation t(15;17)(q24;q21), raising two hybrid genes: PML::RARA and RARA::PML. There is a biased clonal evolution in APL since imbalances affecting the der(15) chromosome (the one that carries the transforming PML::RARA gene) have never been reported; instead, imbalances of the der(17), mainly in form of an ider(17)(q10), have been repeatedly documented. We here present two cases with APL who acquired an ider(17)(q10) as a secondary chromosomal change. The presence of the ider(17)(q10) implies several genomic consequences with potential to fuel tumor progression: (1) a duplication of the hybrid gene RARA::PML; (2) a cumulative haploinsufficiency for tumor suppressor genes located in the 17p arm; and (3) a cumulative triplosensitivity of genes located in 17q10→RARA::PML→15qter. Both our patients were treated following the PETHEMA LPA 2012 protocol with ATRA plus idarubicin and they have had a long event-free survival.
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