Cytogenetic and molecular studies of the Philadelphia translocation in myelodysplastic syndromes. Report of two cases and review of the literature

Cancer Genet Cytogenet. 1992 Apr;59(2):161-6. doi: 10.1016/0165-4608(92)90209-q.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aged
  • Anemia, Refractory / genetics
  • Blotting, Southern
  • Bone Marrow Cells
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Fragility*
  • Chromosomes, Human, Pair 4
  • Chromosomes, Human, Pair 6
  • Humans
  • Leukemia, Myelomonocytic, Chronic / genetics
  • Leukocytosis / genetics
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • Philadelphia Chromosome*
  • Thrombocytosis / genetics
  • Translocation, Genetic