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Identification of chromosomal abnormalities in patients with Acute Myeloid Leukemia (AML) has contributed substantially to our current understanding of the molecular pathogenesis underlying leukemogenesis, and risk-stratification. Based on molecular abnormalities both influences treatment strategies and aids in determining prognosis. While over 300 established mutations have been documented in AML, the enhanced availability of genetic analysis and the increase in awareness of uncommon chromosomal translocations have made it possible for rare, apparently unique translocations to become recognized and to ultimately gain prognostic significance. Hence, we present a case of AML with a novel, t(4;8) involving breakpoints previously undescribed. Although the patient required second induction, first remission was ultimately achieved. While the prognostic significance of this translocation is not fully elucidated, it is our hope that documentation of this patient’s presentation will help to characterize the significance of a yet undefined cytogenetic abnormality in AML.

journal of clinical and laboratory research

Identification of a Novel Unbalanced t(4;8) (q12;q24) in Paediatric Acute Myeloid Leukemia M2 with AML-ETO Negative Patient by Fluorescence in Situ Hybridization Technique