Volume 105, Issue 3 pp. 684-689

An investigation of the t(12;21) rearrangement in children with B-precursor acute lymphoblastic leukaemia using cytogenetic and molecular methods

Helena Kempski

Helena Kempski

LRF Centre for Childhood Leukaemia, Department of Molecular Haematology, Institute of Child Health, London,

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Jane Chalker

Jane Chalker

LRF Centre for Childhood Leukaemia, Department of Molecular Haematology, Institute of Child Health, London,

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Judith Chessells

Judith Chessells

Department of Haematology and Oncology, Great Ormond Street Hospital for Children, London

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Natalie Sturt

Natalie Sturt

Department of Haematology and Oncology, Great Ormond Street Hospital for Children, London

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Paul Brickell

Paul Brickell

LRF Centre for Childhood Leukaemia, Department of Molecular Haematology, Institute of Child Health, London,

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Julie Webb

Julie Webb

LRF Centre for Childhood Leukaemia, Department of Molecular Haematology, Institute of Child Health, London,

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Jim MacDonald Clink

Jim MacDonald Clink

Department of Haematology and Oncology, Great Ormond Street Hospital for Children, London

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Brian Reeves

Brian Reeves

LRF Centre for Childhood Leukaemia, Department of Molecular Haematology, Institute of Child Health, London,

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First published: 25 December 2001
Citations: 38
Dr Helena Kempski, LRF Centre for Childhood Leukaemia, Department of Molecular Haematology, Institute of Child Health, 30 Guilford Street, London WC1N 1EH.

Abstract

The t(12;21) is the commonest recurrent translocation in childhood acute lymphoblastic leukaemia (ALL), the presence of which has been suggested to be a good prognostic feature. We have studied 22 childhood cases of B-precursor ALL with this rearrangement, and have found no significant differences in event-free survival between these and a control group of patients with similar phenotypes. Using a variety of cytogenetic and molecular techniques, we have confirmed a strong association with co-expression of myeloid markers, frequent deletions of the short-arm of the untranslocated chromosome 12 homologue and duplication of the derivative chromosome 21. Intragenic deletion of the untranslocated ETV6 gene in 3/12 informative patients points to the likelihood of this gene being a target for deletion.

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