title: Cytogenetic and molecular analysis of a "masked" Philadelphia chromosome in chronic and blastic phases of chronic myeloid leukemia.
abstract: A "masked" Philadelphia chromosome (Ph), t(1;22;9)(p32;q11;q34), was found in the bone marrow and peripheral blood cells of a patient with chronic myeloid leukemia (CML) during the chronic and blastic phases of the disease. As an additional change, a reciprocal translocation t(12;13)(p13;q14) was observed in the blastic phase. Southern blot analysis showed a rearrangement of the breakpoint cluster region (bcr). Northern blot analysis with a c-abl probe showed an abnormal 8.5 kb c-abl RNA transcript in addition to the normal 6- and 7-kilobase (kb) c-abl species. Thus, the results demonstrate the presence of a c-abl/bcr rearrangement in the masked Ph corresponding to that observed in the standard Ph translocation t(9;22)(q34;q11) of CML.
authors.affiliation: Institut für Strahlenbiologie, Universität München, F.R.G.
authors.forename: H
authors.initials: H
authors.lastname: Zitzelsberger
authors.forename: M
authors.initials: M
authors.lastname: Bauchinger
authors.forename: W
authors.initials: W
authors.lastname: Wilmanns
authors.forename: P G
authors.initials: PG
authors.lastname: Strauss
mesh_terms: D001752:Blast Crisis / Q000235:genetics* / Q000473:pathology; D015152:Blotting, Northern; D015139:Blotting, Southern; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D010677:Philadelphia Chromosome; D012334:RNA, Neoplasm / Q000235:genetics; D015183:Restriction Mapping
chemical_list: D004273:DNA, Neoplasm; D012334:RNA, Neoplasm