Genes & Cancer

A novel t (5; 17) (q35; q21) associated with t (8; 21) (q22; q22) in a patient with acute myeloid leukemia: case report and review of literature

Kmira Zahra1, Wided Cherif1, Gereisha Ahmed2, Haifa Regaieg1, Ben Sayed Nesrine1, Monia Zaier1, Wided Mootamri2, Yosra Ben Youssef1, Nejia Brahem2, Halima Sennana3 and Abderrahim Khelif1

1 Department of Clinical Hematology, Farhat Hached University Hospital-Sousse-Tunisia, Sousse 4081, Tunisia

2 Department of Cytology, Farhat Hached University Hospital-Sousse-Tunisia, Sousse 4081, Tunisia

3 Department of Cytogenetics, Farhat Hached University Hospital-Sousse-Tunisia, Sousse 4081, Tunisia


Kmira Zahra, email:[email protected]

Keywords: acute myeloid leukemia; T (8; 21) (q22; q22); T (5; 17) (q35; q21); NPM1/RARA; allogenic stem cells transplantation

Received: April 01, 2023 Accepted: June 14, 2023 Published: June 28, 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.

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