title: Cytogenetic and molecular studies of the Philadelphia translocation in myelodysplastic syndromes. Report of two cases and review of the literature.
abstract: We report two patients with a myelodysplastic syndrome and the Philadelphia (Ph) chromosome. The first patient was a 73-year-old man who was diagnosed as having a chronic myelomonocytic leukemia in combination with features suggestive of a myeloproliferative syndrome. Chromosomal analysis showed a normal karyotype in the majority of cells, mixed with metaphases containing a standard Ph translocation, t(9;22)(q34;q11), as well as a translocation between chromosome 4 and 6: t(4;6)(p15;p12). Southern blot analysis showed breakpoint cluster region rearrangement as observed in classic chronic myeloid leukemia. The second patient was a 63-year-old man with a myelodysplastic syndrome, type refractory anemia. Cytogenetic study of bone marrow cells at the time of diagnosis revealed a normal karyotype: 46,XY. The initial myelodysplastic syndrome evolved to a myeloproliferative phase with progressive leukocytosis and thrombocytosis. During the terminal phase the Ph chromosome was discovered in 100% of the examined cells. We discuss the correlation between MDS and myeloproliferative diseases, the de novo acquisition of the Ph chromosome during the course of a myelodysplastic syndrome, and review the literature.
authors.affiliation: Department of Hematology, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Verhoef
authors.forename: P
authors.initials: P
authors.lastname: Meeus
authors.forename: M
authors.initials: M
authors.lastname: Stul
authors.forename: C
authors.initials: C
authors.lastname: Mecucci
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
authors.forename: H
authors.initials: H
authors.lastname: Van Den Berghe
authors.forename: M
authors.initials: M
authors.lastname: Boogaerts
mesh_terms: D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics; D015139:Blotting, Southern; D001854:Bone Marrow Cells; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002873:Chromosome Fragility; D002894:Chromosomes, Human, Pair 4; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics; D007964:Leukocytosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D010677:Philadelphia Chromosome; D013922:Thrombocytosis / Q000235:genetics; D014178:Translocation, Genetic