Characterization of a t(10;12)(q24;p13) in a case of CML in transformation

Ricardo C T Aguiar, Andrew Chase, David G. Oscier, Melina Carapeti, John M. Goldman, Nicholas C P Cross

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)408-411
Number of pages4
JournalGenes Chromosomes and Cancer
Volume20
Issue number4
StatePublished - Dec 1997
Externally publishedYes

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Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Southern Blotting
Fluorescence In Situ Hybridization
Genes
Blast Crisis
Philadelphia Chromosome
Myelodysplastic Syndromes
Genetic Association Studies
Clone Cells
Alleles

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Aguiar, R. C. T., Chase, A., Oscier, D. G., Carapeti, M., Goldman, J. M., & Cross, N. C. P. (1997). Characterization of a t(10;12)(q24;p13) in a case of CML in transformation. Genes Chromosomes and Cancer, 20(4), 408-411.

Characterization of a t(10;12)(q24;p13) in a case of CML in transformation. / Aguiar, Ricardo C T; Chase, Andrew; Oscier, David G.; Carapeti, Melina; Goldman, John M.; Cross, Nicholas C P.

In: Genes Chromosomes and Cancer, Vol. 20, No. 4, 12.1997, p. 408-411.

Research output: Contribution to journalArticle

Aguiar, RCT, Chase, A, Oscier, DG, Carapeti, M, Goldman, JM & Cross, NCP 1997, 'Characterization of a t(10;12)(q24;p13) in a case of CML in transformation', Genes Chromosomes and Cancer, vol. 20, no. 4, pp. 408-411.
Aguiar RCT, Chase A, Oscier DG, Carapeti M, Goldman JM, Cross NCP. Characterization of a t(10;12)(q24;p13) in a case of CML in transformation. Genes Chromosomes and Cancer. 1997 Dec;20(4):408-411.
Aguiar, Ricardo C T ; Chase, Andrew ; Oscier, David G. ; Carapeti, Melina ; Goldman, John M. ; Cross, Nicholas C P. / Characterization of a t(10;12)(q24;p13) in a case of CML in transformation. In: Genes Chromosomes and Cancer. 1997 ; Vol. 20, No. 4. pp. 408-411.
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