Identification of chromosome 21 anomalies in patients with acute myeloid leukemia by fluorescence in situ hybridization

Abstract

To investigate the possible complex anomalies of chromosome 21 in patients with acute myeloid leukemia (AML). Fluorescence in situ hybridization (FISH) was performed by using commercially available DNA probes, including whole chromosome painting probes, locus specific probes, and specific and dual color translocation fusion probes, on 50 AML patients, 37 adults and 13 children. Anomalies of chromosome 21 were found in 7 patients (14%), including numerical chromosomal anomalies and structural rearrangements. Four of the 13 pediatric patients were found to have trisomy of chromosome 21, among which one had an additional chromosome rearrangement: 47-49,XX,der(1)t(1;17)(p36.1;q23), +4, +10, der(11)t(11;17)(q23;q23), -17, -18, +20, +21. Three out of the 37 adult patients were found to have structural rearrangement of chromosome 21, I.e., t(8;21), among which one had an additional duplicated derivative chromosome 21 plus duplication 15q:46,XX,der(21)t(8;21), dup(15q). Rearrangement of chromosome 21 is common in both childhood and adult patients with AML. However, childhood patients tend to have numerical change of chromosome 21, whereas the adult patients are likely to have structural changes of chromosome 21.