title: Molecular implications of Ph (+) myelodysplastic syndrome.
abstract: We report a case of 62-year-old Japanese male with a myelodysplastic syndrome (MDS) with a Philadelphia (Ph) chromosome. Cytogenetic analysis revealed the bone marrow cells to contain a Ph chromosome due to t(?;11;22) (?;q11;q11), as well as -5, -7, +8, -12 and an extra Ph, in addition to cells with a normal karyotype. Molecular analysis using breakpoint cluster region probes (5' bcr and 3' bcr) did not detect a rearrangement within the bcr DNA sequences, indicating that the breakpoint at 22q11 occurred outside the bcr. Furthermore, the bone marrow cells from this patient did not express an 8.5 kb c-abl mRNA. Thus, the Ph translocation in this case differs from that of Ph-positive chronic myelogenous leukemia.
authors.affiliation: Department of Internal Medicine, Tokyo Medical College, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Toyama
authors.forename: K
authors.initials: K
authors.lastname: Ohyashiki
authors.forename: J H
authors.initials: JH
authors.lastname: Ohyashiki
mesh_terms: D015139:Blotting, Southern; D006801:Humans; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D010677:Philadelphia Chromosome; D011505:Protein-Tyrosine Kinases; D011518:Proto-Oncogene Proteins / Q000235:genetics; D016315:Proto-Oncogene Proteins c-abl; D051562:Proto-Oncogene Proteins c-bcr; D014178:Translocation, Genetic
chemical_list: D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; D016315:Proto-Oncogene Proteins c-abl; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr