PMID- 17311319 OWN - NLM STAT- MEDLINE DCOM- 20071004 LR - 20071115 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 46 IP - 5 DP - 2007 May TI - Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia. PG - 478-86 AB - The t(1;19)(q23;p13.3) is one of the most common chromosomal abnormalities in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and usually gives rise to the TCF3-PBX1 fusion gene. Additional rare, and sometimes cytogenetically cryptic, translocations involving the TCF3 gene have also been described. Using a dual color split-signal fluorescence in situ hybridization (FISH) probe, we have investigated the involvement of this gene in a series of BCP-ALLs harboring 19p13 translocations, as well as an unselected patient cohort. The TCF3 gene was shown to be involved in the majority of cases with a cytogenetically visible t(1;19) translocation, while the remaining TCF3-negative ALLs demonstrated breakpoint heterogeneity. Although most "other" 19p13 translocations did not produce a split-signal FISH pattern, a novel t(13;19)(q14;p13) involving TCF3 was discovered. A prospective screen of 161 children with BCP-ALL revealed a cryptic t(12;19)(p13;p13), another novel TCF3 rearrangement, and a series of patients with submicroscopic deletions of TCF3. These results demonstrate the utility of a split-signal FISH strategy in confirming the involvement of the TCF3 gene in 19p13 rearrangements and in identifying novel and cryptic TCF3 translocations. In addition to its role as a fusion partner gene, we propose that TCF3 can also act as a tumor suppressor gene in BCP-ALL. CI - (c) 2007 Wiley-Liss, Inc. FAU - Barber, Kerry E AU - Barber KE AD - Leukaemia Research Cytogenetics Group, Cancer Sciences Division, University of Southampton, Southampton, UK. FAU - Harrison, Christine J AU - Harrison CJ FAU - Broadfield, Zoe J AU - Broadfield ZJ FAU - Stewart, Adam R M AU - Stewart AR FAU - Wright, Sarah L AU - Wright SL FAU - Martineau, Mary AU - Martineau M FAU - Strefford, Jon C AU - Strefford JC FAU - Moorman, Anthony V AU - Moorman AV LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (Basic Helix-Loop-Helix Transcription Factors) RN - 0 (TCF3 protein, human) SB - IM MH - Basic Helix-Loop-Helix Transcription Factors/*genetics MH - Burkitt Lymphoma/*genetics/pathology MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 1 MH - *Chromosomes, Human, Pair 19 MH - Gene Rearrangement MH - Humans MH - In Situ Hybridization, Fluorescence MH - Interphase MH - Karyotyping MH - Precancerous Conditions/genetics/pathology MH - Sequence Deletion MH - *Translocation, Genetic EDAT- 2007/02/22 09:00 MHDA- 2007/10/05 09:00 CRDT- 2007/02/22 09:00 PHST- 2007/02/22 09:00 [pubmed] PHST- 2007/10/05 09:00 [medline] PHST- 2007/02/22 09:00 [entrez] AID - 10.1002/gcc.20431 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 2007 May;46(5):478-86. doi: 10.1002/gcc.20431.