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inv(19)(p13q13) TCF3/TFPT

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

Written2008-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1295

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

Hybrid gene
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.
  
Fusion Protein
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.
  

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.
Case Report Cryptic t(19;19)(p13.3;q13.2), involving the TCF3/E2A gene, detected and described by molecular cytogenetics in a patient with childhood B-cell progenitor acute lymphoblastic leukemia

Bibliography

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
 
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
 

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. 2009;13(9):670-670.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1919p13q13ID1295.html


Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes TCF3 TFPT

Translocations implicated (Data extracted from papers in the Atlas)

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

External links

TCF3 (19p13.3) TFPT (19q13.42)

TCF3 (19p13.3) TFPT (19q13.42)

Mitelman databaseinv(19)(p13q13) [Case List]    inv(19)(p13q13) [Association List] Mitelman database (CGAP - NCBI)
Mitelman databaset(19;19)(p13;q13) [Case List]    t(19;19)(p13;q13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseTCF3/TFPT [MCList]  TCF3 (19p13.3) TFPT (19q13.42)
TICdbTCF3/TFPT  TCF3 (19p13.3) TFPT (19q13.42)
 
Disease databaseinv(19)(p13q13) TCF3/TFPT
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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