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.

Q2 Biochemistry, Genetics and Molecular Biology

Genes and Cancer Pub Date : 2023-01-01 DOI:10.18632/genesandcancer.232

Kmira Zahra, Wided Cherif, Gereisha Ahmed, Haifa Regaieg, Ben Sayed Nesrine, Monia Zaier, Wided Mootamri, Yosra Ben Youssef, Nejia Brahem, Halima Sennana, Abderrahim Khelif

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Abstract

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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小说(5;17) (q35;Q21)与t (8;21)(如;Q22)急性髓性白血病1例:病例报告及文献复习。

t (8;21)(如;q22)导致RUNX1- RUNX1T1重排是急性髓性白血病(AML)中最常见的细胞遗传学异常之一。它与良好的预后有关。t (5;17) (q35;q21)是一种罕见的易位，将核磷蛋白(NPM)基因融合到视黄酸受体α(RARA)上，主要发生在急性早幼粒细胞白血病(APL)变体中。我们提出一个19岁的男性患者谁发展AML与t (8;21)(如;Q22)与t (5;17) (q35;21)。白血病细胞的形态和免疫表型与AML一致。患者在首次缓解时接受基于阿糖胞苷和蒽环类药物的化疗，不使用全反式维甲酸(ATRA)，随后进行同种异体干细胞移植。据我们所知，这是首次报道罕见的易位t (5;17)和t (8);21) AML。在这篇报道中，我们将讨论这种关联的预后以及治疗。

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来源期刊

Genes and Cancer Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.90

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0.00%

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