posted on 2009-01-05, 15:42authored byLisa J. Russell, Takashi Akasaka, Aneela Majid, Kei-ji Sugimoto, E. Loraine Karran, Inga Nagel, Lana Harder, Alexander Claviez, Stefan Gesk, Anthony V. Moorman, Fiona Ross, Helen Mazzullo, Jonathan C. Strefford, Reiner Siebert, Martin J. S. Dyer, Christine J. Harrison
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 identified ID4 as the partner gene. Breakpoints were scattered over a 19kb region centromeric of ID4. Quantitative real-time PCR showed upregulation 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.