inv(19)(p13q13) TCF3/TFPT
t(19;19)(p13;q13) TCF3/TFPT

2008-09-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

Childhood pre-B cell acute lymphoblastic leukemia

Note

There is no clinical data in the only paper describing the fusion TCF3-TFPT, nor cytogenetic indications (Brambillasca et al., 1999); inv(19)(p13q13) has also be found in 3 cases of hairy cell leukemia (Haglund et al., 1994); the genes involved in these three patients are unknown; this inv(19) is likely to represent another entity.

Genes Involved and Proteins

Gene name
TCF3 (transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47))
Location
19p13.3
Protein description
TCF3, better known as E2A, is a member of the basic helix-loop-helix (bHLH) 1 family of transcription factors that are ubiquitously expressed during development.
Gene name
TFPT (TCF3/E2A fusion partner)
Location
19q13.42
Protein description
Role in cell cycle inhibition and apoptosis.

Result of the Chromosomal Anomaly

Description

5 TCF3 - 3 TFPT; the translocation joins TCF3 exon 13 or 14 to part of TFPT; the junction is in frame in some cases, and out of frame in others. The reciprocal transcript was not found.Variable junction between TCF3 and TFPT, retaining the transactivation domain of TCF3, but with a truncation in TFPT, due to the frequent occurrence of a stop codon.

Bibliography

Pubmed IDLast YearTitleAuthors
100867271999Identification of a novel molecular partner of the E2A gene in childhood leukemia.Brambillasca F et al
81673431994Hairy cell leukemia is characterized by clonal chromosome abnormalities clustered to specific regions.Haglund U et al

Summary

Fusion gene

TCF3/TFPT TCF3 (19p13.3) TFPT (19q13.42) M t(19;19)(p13;q13)|TCF3/TFPT TCF3 (19p13.3) TFPT (19q13.42) TIC

Citation

Jean-Loup Huret

inv(19)(p13q13) TCF3/TFPT
t(19;19)(p13;q13) TCF3/TFPT

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1295/inv(19)(p13q13)

External Links