t(13;19)(q14;p13) TCF3/?

2011-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

B cell acute lymphoblastic leukemia (B-ALL)

Note

An apparently identical t(13;19)(q14;p13) has been described in 3 cases of chronic lymphocytic leukemia (CLL) (Finn et al., 1998; Merup et al., 1998; Brown et al.,1993).

Epidemiology

Only one case to date of ALL with this translocation, a 19-year-old female patient with pre-B-ALL; she achieved complete remission and (CR) was in continuing CR 10 months later, at last follow up (Barber et al., 2007).

Genes Involved and Proteins

Note
The translocation involves TCF3 and an unknown partner.
Gene name
TCF3 (transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47))
Location
19p13.3
Protein description
The E2A gene encodes two distinct basic helix-loop-helix transcription factors, E12 (ITF1) and E47 (TCF3) through alternative splicing. It forms homodimers and heterodimers with other basic helix-loop-helix transcription factors. Ubiquitously expressed during development. Role in cell growth, cell commitment, and differentiation. Role in epithelial mesenchymal transition (review in Slattery et al., 2008).

Bibliography

Pubmed IDLast YearTitleAuthors
173113192007Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia.Barber KE et al
84906581993Evidence for a new tumour suppressor locus (DBM) in human B-cell neoplasia telomeric to the retinoblastoma gene.Brown AG et al
97986601998Secondary abnormalities of chromosome 6q in B-cell chronic lymphocytic leukemia: a sequential study of karyotypic instability in 51 patients.Finn WG et al
97421201998The AD1 and AD2 transactivation domains of E2A are essential for the antiapoptotic activity of the chimeric oncoprotein E2A-HLF.Inukai T et al
95932681998A FISH cosmid 'cocktail' for detection of 13q deletions in chronic lymphocytic leukaemia--comparison with cytogenetics and Southern hybridization.Merup M et al
176042082008E2A proteins: regulators of cell phenotype in normal physiology and disease.Slattery C et al

Citation

Jean-Loup Huret

t(13;19)(q14;p13) TCF3/?

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1512/t(13;19)(q14;p13)-tcf3

External Links