Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases
| Autor: | Adriana García-Romero, Rosa María González-Arreola, César Borjas-Gutiérrez, María Teresa Magaña-Torres, Juan Ramón González-García |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Cytogenetic and Genome Research. 162:306-311 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000527370 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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