Evolution of a near-triploid karyotype in a secondary erythroleukemia

Abstract

We report a case of erythroleukemia (EL;FAB M6), preceded by a myelodysplastic phase, in a 50-year-old male 8 years after treatment for Hodgkin's lymphoma. Cytogenetic analysis of bone marrow at time of diagnosis of EL revealed three cell lines: 1) 28 of 53 cells (53%) were hypodiploid, 43,XY,−5,−7,−12; 2) 23 of 53 cells (43%) were near-triploid, stemline 67–69,XY,+2,del(5)(q11.2),+del(5)(q11.2),+6,−7,+8,−9,−11,−12,+15,−16,der(17)t(17;?) (p11.2;?),−18,−20,−20,+22,+r,+mar (relative to a complete triploid cell); 3) 2 of 53 cells (4%) were normal 46,XY. The relative monosomies of 5, 7, and 12 in both abnormal lines suggest that the near-triploid line evolved from the hypodiploid line. A single hypodiploid cell with both del(5) and der(17) chromosomes that appeared identical to those in the near-triploid line suggests that polyploidization occurred after these structural rearrangements. While EL is not characterized by any well-defined structural abnormality, reported cases are frequently hypodiploid, with occasional cases of polyploidization, as in our patient. EL in adults without previous neoplasia or recognized mutagenic exposure has been shown to have loss or deletion of chromosomes 5 and 7, also characteristic of myelodyplastic syndromes and secondary leukemia. Our patient had a relative lack of chromosomes 5 and 7 in both abnormal clones, as well as a del(5)(q11) in the near-triploid line. This case of EL clearly demonstrates the evolution of a complex near-triploid line from a hypodiploid line, with chromosome abnormalities typical of both EL and secondary leukemia.