Novel Translocation in Acute Myeloid Leukemia: Case Report and Review of Risk-Stratification and Induction Chemotherapy in Patients With Acute Myeloid Leukemia

Abstract

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, balanced 2;12 translocation 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.

Keywords: 12); Acute myeloid leukemia; Translocation; t(2.

Figure 1

Pretreatment images showing blasts in the bone marrow and peripheral blood (a, b) and bone marrow hypercellularity (c). Bone marrow aspirate after two cycles of chemotherapy showing marked hypocellularity consistent with chemoablation (d). Post-recovery bone marrow aspirate and core biopsy showing recovered bone marrow (e, f).