title: A complex three-way translocation with deletion of the TP53 gene in a blast crisis chronic myeloid leukemia patient.
abstract: Chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome created by the reciprocal translocation t(9;22) (q34;q11), resulting in the chimeric BCR-ABL oncogene. Variant Ph' chromosome translocations involving additional chromosomes are seen in 5-10% of CML cases. In the present study, a novel case of Ph' chromosome-positive CML is reported, with a three-way translocation involving chromosomal regions, 9q34, 22q11.2 and 17p11.2, with additional secondary changes. The three-way translocation has resulted in a deletion of the TP53 gene located on the chromosome 17p13.1 locus. Deletion of the TP53 gene may be a major contributing factor in the development of resistance to imatinib and blast crisis.
authors.forename: Prajakta
authors.initials: P
authors.lastname: Kokate
authors.forename: Rupa
authors.initials: R
authors.lastname: Dalvi
authors.affiliation: Department of Cytogenetics, SRL Diagnostics, Mumbai, Maharashtra, India.
authors.forename: Swarna
authors.initials: S
authors.lastname: Mandava
mesh_terms: D000328:Adult; D001752:Blast Crisis / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008297:Male; D010677:Philadelphia Chromosome; D011379:Prognosis; D017384:Sequence Deletion; D014178:Translocation, Genetic / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53