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

2011-08-01 Jean-Loup Huret Affiliation

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 ID	Last Year	Title	Authors
17311319	2007	Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia.	Barber KE et al
8490658	1993	Evidence for a new tumour suppressor locus (DBM) in human B-cell neoplasia telomeric to the retinoblastoma gene.	Brown AG et al
9798660	1998	Secondary abnormalities of chromosome 6q in B-cell chronic lymphocytic leukemia: a sequential study of karyotypic instability in 51 patients.	Finn WG et al
9742120	1998	The AD1 and AD2 transactivation domains of E2A are essential for the antiapoptotic activity of the chimeric oncoprotein E2A-HLF.	Inukai T et al
9593268	1998	A FISH cosmid 'cocktail' for detection of 13q deletions in chronic lymphocytic leukaemia--comparison with cytogenetics and Southern hybridization.	Merup M et al
17604208	2008	E2A proteins: regulators of cell phenotype in normal physiology and disease.	Slattery C et al