Additional Cytogenetic Aberrations Indicative of Poor Prognosis in AML with RUNX1/RUNX1T1 Rearrangement: Karyotype a Chromosomal Blueprint

Abstract

AML is a highly heterogeneous disease with t(8;21)(q22;q22) as a frequently occurring aberration. While most studies show these patients to demonstrate a good response to standard chemotherapy, a lot of Indian and Western studies suggest otherwise. Trisomy 4 is a rare but a specific chromosomal abnormality in certain subtypes of AML. Although the significance of t(8;21) with trisomy 4 in AML remains uncertain, patients with this abnormality are typically associated with poor prognosis. Similarly, KIT mutations are also common with t(8;21) AML suggesting poorer outcomes. We report a case of AML with duplicated derivative 21 due to t(8;21), trisomy 4 and KIT mutation at baseline and an additional t(2;12) and ASXL2 mutation at relapse.