A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q)

Abstract

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, neartriploidy in myeloid malignancies is associated with poor outcomes. Few studies on neartriploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic signifcance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS. © The Korean Society for Laboratory Medicine.