Zahra Kmira, Cherif Wided, Ahmed Gereisha, Regaieg Haifa, Nesrine Ben Sayed, Zaier Monia, Mootamri Wided, Youssef Yosra Ben, Brahem Nejia, Sennana Halima, Khelif Abderrahim
Department of Clinical Hematology, Farhat Hached University Hospital-Sousse-Tunisia, Sousse 4081, Tunisia.
Department of Cytology, Farhat Hached University Hospital-Sousse-Tunisia, Sousse 4081, Tunisia.
Genes Cancer. 2023 Jun 28;14:50-55. doi: 10.18632/genesandcancer.232. eCollection 2023.
The t (8; 21) (q22; q22) with the resulting RUNX1- RUNX1T1 rearrangement is one of the most common cytogenetic abnormalities in acute myeloid leukemia (AML). It is associated with favorable prognosis. The t (5; 17) (q35; q21) is an uncommon translocation, fuses the gene for the nucleophosmin (NPM) to the retinoic acid receptor α(RARA) and was described essentially in acute promyelocytic leukemia (APL) variant. We present the case of a 19-year-old male patient who developed an AML with t (8; 21) (q22; q22) associated to t (5; 17) (q35; 21). Morphology and immunophenotype of the leukemic cells were compatible with AML. The patient received chemotherapy based on cytarabine and anthracycline without all-trans retinoic acid (ATRA) followed by allogenic stem cell transplantation in first remission. To the best of our knowledge, this is the first report of an association between a rare translocation t (5; 17) and t (8; 21) in AML. In this report, we will discuss the prognosis of this association as well as the treatment.
导致RUNX1-RUNX1T1重排的t(8;21)(q22;q22)是急性髓系白血病（AML）中最常见的细胞遗传学异常之一。它与预后良好相关。t(5;17)(q35;q21)是一种罕见的易位，将核磷蛋白（NPM）基因与维甲酸受体α（RARA）融合，主要在急性早幼粒细胞白血病（APL）变异型中被描述。我们报告了一例19岁男性患者，其发生了与t(5;17)(q35;21)相关的t(8;21)(q22;q22) AML。白血病细胞的形态学和免疫表型与AML相符。该患者接受了基于阿糖胞苷和蒽环类药物的化疗，未使用全反式维甲酸（ATRA），随后在首次缓解期进行了异基因干细胞移植。据我们所知，这是AML中罕见的t(5;17)与t(8;21)关联的首次报告。在本报告中，我们将讨论这种关联的预后以及治疗情况。
