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 Blood, 1 January 2008, Vol. 111, No. 1, pp. 387-391.
Prepublished online as a Blood First Edition Paper on October 16, 2007; DOI 10.1182/blood-2007-07-092015.

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NEOPLASIA

Brief Report

t(6;14)(p22;q32): a new recurrent IGH@ translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL)

Lisa J. Russell1, Takashi Akasaka2, Aneela Majid2, Kei-ji Sugimoto2, E. Loraine Karran2, Inga Nagel3, Lana Harder3, Alexander Claviez4, Stefan Gesk3, Anthony V. Moorman1, Fiona Ross5, Helen Mazzullo6, Jonathan C. Strefford1, Reiner Siebert3, Martin J. S. Dyer2, and Christine J. Harrison1

1 Leukaemia Research Cytogenetics Group, Cancer Sciences Division, University of Southampton, Southampton General Hospital, Southampton, United Kingdom; 2 Medical Research Council (MRC) Toxicology Unit, University of Leicester, Leicester, United Kingdom; 3 Institute of Human Genetics and 4 Department of Pediatrics, University-Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany; 5 Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom; and 6 Department of Haematology and Blood Transfusion, University College Hospital, London, United Kingdom

Translocations involving the immunoglobulin heavy chain locus (IGH@) at chromosome band 14q32 are common in mature B-cell neoplasms, but are rare in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Here, we report the translocation, t(6;14)(p22;q32), involving IGH@ as a novel recurrent translocation in 13 BCP-ALL patients. Fluorescence in situ hybridization and long-distance inverse polymerase chain reaction (PCR) identified ID4 as the partner gene. Breakpoints were scattered over a 19kb region centromeric of ID4. Quantitative real-time PCR showed up-regulation of ID4 mRNA. All patients had deletions of CDKN2A and PAX5 located on the short arm of chromosome 9, frequently as a result of an isochromosome, i(9)(q10) (9/13, 69%). This study defines a new subgroup of BCP-ALL characterized by ID4 over-expression and CDKN2A and PAX5 deletions. Preliminary survival data suggest that this subgroup may be associated with a good response to therapy.


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