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Kidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3

Written1998-03François Desangles
Laboratoire de Biologie, Hopital du Val de Grace, 75230 Paris, France
Updated2016-08Pedram Argani
Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) pargani@jhmi.edu

(Note : for Links provided by Atlas : click)

Abstract

Abstract Review on Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3, with data on clinics, and the genes involve

Identity

ICD-Topo C649 KIDNEY
ICD-Morpho 8260/3 Papillary adenocarcinoma, NOS
Atlas_Id 5009
Phylum Urinary system:Kidney:Adult:Renal cell carcinoma:t(X; 1)(p11;q21)
t(X;1)(p11;q21) (G banding) - Courtesy Francois Desangles.

Classification

    Xp11 translocation renal cell carcinoma (RCCs) harbor gene fusions involving TFE3 transcription factor. The The t(6;11) RCCs harbor a specific MALAT1 (Alpha) - TFEB gene fusion. TFEB and TFE3 belong to the same MiT subfamily of transcription factors. Because of similarities at the clinical, morphologic, immunohistochemical, and genetic levels, the Xp11 translocation RCCs and t(6;11) RCCs are currently grouped together under the category of MiT family translocation renal cell carcinoma.)

Clinics and Pathology

Disease Renal cell carcinoma.
Phenotype / cell stem origin t(X;1) (p11;q21) PRCC/TFE3 is found in Xp11 translocation renal cell carcinoma.
Epidemiology Approximately 40 reported cases, median age 20 yrs (range 2-69); sex ratio: 17M/20F. A subset of cases has been associated with prior exposure to cytotoxic chemotherapy.
Pathology PRCC frequently have papillary architecture with clear cytoplasm and abundant psammoma bodies. Other cases are nested and mimic clear cell RCC.
Treatment Radical nephrectomy.
Prognosis Similar to that of others papillary renal cell carcinoma.

Cytogenetics

Cytogenetics Molecular +17.
Probes TFE3 and PRCC/TFE3

Genes involved and Proteins

Gene Name TFE3
Location Xp11.2
Protein Transcription factor; binds to the immunoglobulin enhancer.

Gene Name PRCC
Location 1q21.2
Protein 491aa; widely expressed; proline rich.

Result of the chromosomal anomaly

Hybrid Gene
Description 5' TFE3 - 3' PRCC and 5' PRCC - 3' TFE3
Detection positional cloning; screening in a tumor cDNA library and hybridization with TFE3
Fusion Protein
Description PRCC/TFE3 fusion protein includes the transcription activating, helix-loop-helix and leucine-zipper domains of TFE3; the TFE3/PRCC fusion protein (513 amino acids) is also expressed.
  

Bibliography

Papillary (chromophil) renal cell carcinoma: histomorphologic characteristics and evaluation of conventional pathologic prognostic parameters in 62 cases.
Amin MB, Corless CL, Renshaw AA, Tickoo SK, Kubus J, Schultz DS
The American journal of surgical pathology. 1997 ; 21 (6) : 621-635.
PMID 9199639
 
PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21).
Argani P, Antonescu CR, Couturier J, Fournet JC, Sciot R, Debiec-Rychter M, Hutchinson B, Reuter VE, Boccon-Gibod L, Timmons C, Hafez N, Ladanyi M.
Am J Surg Pathol. 2002 Dec;26(12):1553-66.
PMID 12459622
 
Translocation carcinomas of the kidney following chemotherapy in childhood.
Argani P, Lae M, Ballard ET, Amin M, Manivel C, Hutchinson B, Reuter VE, Ladanyi M.
J Clin Oncol 2006; 24: 1529-1534.
PMID 16575003
 
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PMID 6772444
 
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, Störkel S, Folkers RP, Braam A, de Jong B
Genes, chromosomes & cancer. 1995 ; 14 (1) : 43-50.
PMID 8527383
 
Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age and stage.
Ellis CL, Eble JN, Subhawong AP, Martignoni G, Zhong M, Ladanyi M, Epstein JI, Netto GJ, Argani P.
Modern Pathology 2014;27: 875-886.
PMID 24309327
 
Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype.
Meloni AM, Dobbs RM, Pontes JE, Sandberg AA
Cancer genetics and cytogenetics. 1993 ; 65 (1) : 1-6.
PMID 8431910
 
Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint.
Tomlinson GE, Nisen PD, Timmons CF, Schneider NR
Cancer genetics and cytogenetics. 1991 ; 57 (1) : 11-17.
PMID 1684532
 
Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.
Weterman MA, Wilbrink M, Geurts van Kessel A
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (26) : 15294-15298.
PMID 8986805
 
Cytogenetics of a renal adenocarcinoma in a 2-year-old child.
de Jong B, Molenaar IM, Leeuw JA, Idenberg VJ, Oosterhuis JW
Cancer genetics and cytogenetics. 1986 ; 21 (2) : 165-169.
PMID 3004698
 
Cytogenetic classification of renal cell cancer.
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PMID 9140459
 

Citation

This paper should be referenced as such :
Argani P
Kidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Tumors/tX1ID5009.html
History of this paper:
Desangles, F. Kidney: t(X;1)(p11.2;q21.2) in renal cell carcinoma. Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):107-108.
http://documents.irevues.inist.fr/bitstream/handle/2042/37446/03-1998-tX1ID5009.pdf


Other genes implicated (Data extracted from papers in the Atlas) [ 4 ]

Genes NONO PRCC S100A4 TFE3

Translocations implicated (Data extracted from papers in the Atlas)

 t(X;1)(p11;q21) PRCC/TFE3

External links

Mitelman database t(X;1)(p11;q21) PRCC/TFE3 [Case List]    t(X;1)(p11;q21) PRCC/TFE3 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C64) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databasePRCC/TFE3[MCList]    PRCC (1q23.1) TFE3 (Xp11.23)   t(X;1)(p11;q23)
 
Disease databaseKidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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