Kidney: t(X;1)(p11.2;p34) in renal cell carcinoma

Identity

Note	must not be confused with the t(X;1)(p11.2;q21), also found in renal cell carcinoma

Classification

renal cell carcinoma (RCC) are classified into two main clinico-pathologic entities clear-cell RCC (also called non-papillary RCC, found in 80% of cases) chromophilic RCC (also called papillary RCC, in 15-20% of cases)

Clinics and Pathology

Disease	t(X;1)(p11.2;p34) is found in very rare (n<5) cases of papillary renal cell carcinoma
Phenotype / cell stem origin	may not be restricted to the papillary subtype of renal cell carcinoma

Genes involved and Proteins

Gene Name	TFE3
Location	Xp11.2
Protein	contains a transcriptional activation domain , a helix-loop-helix, and a leucine zipper; member of the basic helix-loop-helix family (b-HLH) of transcription factors

Gene Name	PSF
Location	1p34
Protein	contains RNA binding domains; involved in pre-m RNA splicing; form complexes with DNA topoisomerase I

Result of the chromosomal anomaly

Hybrid Gene
Description	5' PSF- 3' TFE3
Fusion Protein
Description	N-term PSF and most of it fused to the DNA binding domains of TFE3 (excluding the acidic transcriptional activation domain, including the C-term helix-loop-helix, and the leucine zipper); no TFE3-PSF reciprocal transcript, as the der(X) t(X;1) is missing; the normal TFE3 transcript is found

Bibliography

Specific chromosome aberration in human renal cell carcinoma.

Kovacs G, Szˆșcs S, De Riese W, Baumgˆ§rtel H

International journal of cancer. Journal international du cancer. 1987 ; 40 (2) : 171-178.

PMID 3610386

Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations.

Dijkhuizen T, van den Berg E, Wilbrink M, Weterman M, Geurts van Kessel A, Stˆrkel S, Folkers RP, Braam A, de Jong B

Genes, chromosomes & cancer. 1995 ; 14 (1) : 43-50.

PMID 8527383

Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma.

Clark J, Lu YJ, Sidhar SK, Parker C, Gill S, Smedley D, Hamoudi R, Linehan WM, Shipley J, Cooper CS

Oncogene. 1997 ; 15 (18) : 2233-2239.

PMID 9393982

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Contributor(s)

Written	01-1999	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . Kidney: t(X;1)(p11.2;p34) in renal cell carcinoma. Atlas Genet Cytogenet Oncol Haematol. January 1999 . URL : http://AtlasGeneticsOncology.org/Genes/tX1ID5056.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:22:44 2008

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