title: Cytogenetic and molecular studies in patients with chronic myeloid leukemia and variant Philadelphia translocations.
abstract: Out of 105 Philadelphia (Ph) positive chronic myeloid leukemia patients analyzed, six (5.7%) carried a variant Ph translocation, namely t(6;9;9;10;22)(q24;p13;q34;p15;q11); t(9;13;22)(q34;q21;q11);der(2)(2pter----2q31::9q21---- 9q34::22q11----22qter) and der(9)t(2;9) (9pter----9q21::2q31----2qter);t(7;9;22)(q11;q34 ;q11), 14q + ;t(7;9;22)(q35;q34;q11), and t(9;11;22) (q34;q13;q11), respectively. Five of these patients were analyzed with Southern blotting. Three of them showed an atypical molecular pattern; namely, the patient with t(9;13;22) showed no rearrangement in the breakpoint cluster region (bcr), the patient with t(7;9;22)(q35;q34;q11) showed a 3' deletion, and the patient with t(7;9;22), 14q + showed a bcr rearrangement 3' to the exon 4 of the M-BCR. Chromosome in situ hybridization studies demonstrated that in patient one, a two-step translocation occurred: the first step moved the 3' bcr from chromosome 22 to chromosome 9, and the second moved the terminal part of 22q, carrying the c-sis protooncogene, to 10p. Variant Ph translocations appear to be associated with atypical molecular breakpoints.
authors: Centro di Genetica e Citogenetica Oncologica, Universita di Bologna, Italy.
authors: A
authors: A
authors: Zaccaria
authors: N
authors: N
authors: Testoni
authors: A
authors: A
authors: Tassinari
authors: B
authors: B
authors: Celso
authors: F
authors: F
authors: Rassool
authors: G
authors: G
authors: Saglio
authors: A
authors: A
authors: Guerrasio
authors: G
authors: G
authors: Rosti
authors: S
authors: S
authors: Tura
mesh_terms: D002871:Chromosome Banding; D014644:Genetic Variation; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010677:Philadelphia Chromosome; D015183:Restriction Mapping; D014178:Translocation, Genetic