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

Written2016-08Pedram Argani
Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA)
This article is an update of :
1998-03François Desangles
Laboratoire de Biologie, Hopital du Val de Grace, 75230 Paris, France

(Note : for Links provided by Atlas : click)


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


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


    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 Molecular +17.
Probes TFE3 and PRCC/TFE3

Genes involved and Proteins

Gene NameTFE3 (transcription factor E3)
Location Xp11.23
Protein Transcription factor; binds to the immunoglobulin enhancer.

Gene NamePRCC (papillary renal cell carcinoma)
Location 1q23.1
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.


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This paper should be referenced as such :
Pedram Argani
Kidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3
Atlas Genet Cytogenet Oncol Haematol. 2017;21(10):380-381.
Free journal version : [ pdf ]   [ DOI ]
On line version :
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.

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


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) [CaseList]     t(X;1)(p11;q21) [Transloc - MCList]   PRCC/TFE3 Fusion - MCList]
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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