Download Cancer Prone Disease Section Kidney: t(X;1)(p11.2;p34) in renal cell carcinoma

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Cancer Prone Disease Section
Short Communication
Kidney: t(X;1)(p11.2;p34) in renal cell carcinoma
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: January 1999
Online updated version : http://AtlasGeneticsOncology.org/Tumors/tX1ID5056.html
DOI: 10.4267/2042/37520
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 1999 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Protein
Contains RNA binding domains; involved in pre-m
RNA splicing; form complexes with DNA
topoisomerase I.
Identity
Note: Must not be confused with the t(X;1)(p11.2;q21),
also found in renal cell carcinoma.
Result of the chromosomal
anomaly
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 1520% of cases).
Hybrid Gene
Description
5' PSF - 3' TFE3.
Clinics and pathology
Disease
t(X;1)(p11.2;p34) is found in very rare (n<5) cases of
papillary renal cell carcinoma.
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-loophelix, and the leucine zipper); no TFE3-PSF reciprocal
transcript, as the der(X) t(X;1) is missing; the normal
TFE3 transcript is found.
Phenotype / cell stem origin
May not be restricted to the papillary subtype of renal
cell carcinoma.
Genes involved and proteins
TFE3
References
Location
Xp11.2
Protein
Contains a transcriptional activation domain, a helixloop-helix, and a leucine zipper; member of the basic
helix-loop-helix family (b-HLH) of transcription
factors.
Kovacs G, Szücs S, De Riese W, Baumgärtel H. Specific
chromosome aberration in human renal cell carcinoma. Int J
Cancer. 1987 Aug 15;40(2):171-8
Dijkhuizen T, van den Berg E, Wilbrink M, Weterman M,
Geurts van Kessel A, Störkel S, Folkers RP, Braam A, de Jong
B. Distinct Xp11.2 breakpoints in two renal cell carcinomas
exhibiting X;autosome translocations. Genes Chromosomes
Cancer. 1995 Sep;14(1):43-50
PSF
Location
1p34
Atlas Genet Cytogenet Oncol Haematol. 1999; 3(2)
101
Kidney: t(X;1)(p11.2;p34) in renal cell carcinoma
Huret JL
Clark J, Lu YJ, Sidhar SK, Parker C, Gill S, Smedley D,
Hamoudi R, Linehan WM, Shipley J, Cooper CS. Fusion of
splicing factor genes PSF and NonO (p54nrb) to the TFE3
gene in papillary renal cell carcinoma. Oncogene. 1997
Oct;15(18):2233-9
Atlas Genet Cytogenet Oncol Haematol. 1999; 3(2)
This article should be referenced as such:
Huret JL. Kidney: t(X;1)(p11.2;p34) in renal cell carcinoma.
Atlas Genet Cytogenet Oncol Haematol. 1999; 3(2):101-102.
102