| 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. |
| Cytogenetics |
| Cytogenetics Morphological | This chromosome rearrangement is cryptic. |
| Genes involved and Proteins |
| Gene Name | TCF3 |
| Location | 19p13.3 |
| Protein | 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 |
| Location | 19q13.4 |
| Protein | 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. |
| Description | 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. |
| External links |
| Other database | inv(19)(p13q13) TCF3/TFPT | Mitelman database (CGAP - NCBI) | |
| Other database | t(19;19)(p13;q13) TCF3/TFPT | Mitelman database (CGAP - NCBI) | |
| Other database | t(19;19)(p13;q13) TCF3/TFPT | CancerChromosomes (NCBI) |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Hairy cell leukemia is characterized by clonal chromosome abnormalities clustered to specific regions. |
| Haglund U, Juliusson G, Stellan B, Gahrton G. |
| Blood. 1994 May 1;83(9):2637-45. |
| PMID 8167343 |
| Identification of a novel molecular partner of the E2A gene in childhood leukemia. |
| Brambillasca F, Mosna G, Colombo M, Rivolta A, Caslini C, Minuzzo M, Giudici G, Mizzi L, Biondi A, Privitera E. |
| Leukemia. 1999 Mar;13(3):369-75. |
| PMID 10086727 |
| Contributor(s) |
| Written | 09-2008 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . inv(19)(p13q13) TCF3/TFPT; t(19;19)(p13;q13) TCF3/TFPT. Atlas Genet Cytogenet Oncol Haematol. Septem
ber 2008 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1919p13q13ID1295.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:46:30 CET 2010 |
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