title: Characterization of a t(10;12)(q24;p13) in a case of CML in transformation.
abstract: We have used Southern blotting and fluorescence in situ hybridization (FISH) to define the breakpoints of a reciprocal translocation, t(10;12)(q24;p13), acquired as a secondary abnormality in a patient with Philadelphia chromosome positive chronic myeloid leukemia (CML) in transformation. A YAC clone that spanned the breakpoint at 12p13 was identified; this YAC included the CDKN1B gene but did not include ETV6. Neither ETV6 nor CDKN1B was rearranged, as determined by FISH and Southern blotting; however, a small deletion encompassing the translocated CDKN1B allele was detected. Analysis of two candidate genes at 10q24, HOX11 and NFKB2 suggested that they are not involved in this translocation. The preliminary mapping of breakpoints in this case demonstrated that they are different from an apparently identical translocation identified previously in a patient with myelodysplastic syndrome. The identification of the split YAC and small deletion should enable a more focused search for a gene or genes that may contribute to progression from chronic phase to blast crisis in CML.
authors.affiliation: Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom.
authors.forename: R C
authors.initials: RC
authors.lastname: Aguiar
authors.forename: A
authors.initials: A
authors.lastname: Chase
authors.forename: D G
authors.initials: DG
authors.lastname: Oscier
authors.forename: M
authors.initials: M
authors.lastname: Carapeti
authors.forename: J M
authors.initials: JM
authors.lastname: Goldman
authors.forename: N C
authors.initials: NC
authors.lastname: Cross
mesh_terms: D015139:Blotting, Southern; D002869:Chromosome Aberrations / Q000235:genetics; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D015342:DNA Probes; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D016328:NF-kappa B / Q000235:genetics; D052003:NF-kappa B p52 Subunit; D009363:Neoplasm Proteins / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D015342:DNA Probes; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D016328:NF-kappa B; D052003:NF-kappa B p52 Subunit; D009363:Neoplasm Proteins; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein; C071250:TLX1 protein, human