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Kidney: Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE3

Written1999-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, 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;p34) SFPQ/TFE3, with data on clinics, and the genes involved.

Identity

ICD-Topo C649 KIDNEY
ICD-Morpho 8260/3 Papillary adenocarcinoma, NOS
Atlas_Id 5056
Phylum Urinary system:Kidney:Adult:Renal cell carcinoma:t(X; 1)(p11;p34)
Note must not be confused with the t(X;1)(p11.2;q21), also found in renal cell carcinoma

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 t(X;1)(p11.2;p34) is found in a subset of Xp11 translocation RCC, median age 36 years. These tumors often have papillary architecture and clear cells with subnuclear vacuoles mimicking clear cell papillary RCC, or a nested clear cell appearance mimicking clear cell RCC.
Phenotype / cell stem origin The identical gene fusion may be found in Xp11 translocation PEComas and Melanotic Xp11 translocation cancers, which differ from the RCC in that they are PAX8 negative and Cathepsin K positive by immunohistochemistry.

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 SFPQ
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' SFPQ - 3' TFE3
Fusion Protein
Description N-term SFPQ 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-SFPQ reciprocal transcript, as the der(X) t(X;1) is missing; the normal TFE3 transcript is found.
  

Bibliography

MiT Family Translocation Renal Cell Carcinoma.
Argani P
Sem Diagn Pathol 2015;32: 103-113.
PMID 25758327
 
TFE3-Fusion Variant Analysis Defines Specific Clinicopathologic Associations Among Xp11 Translocation Cancers.
Argani P, Zhong, M, Reuter VE, Fallon JT, Epstein JI, Netto GJ, Antonescu CR
Am J Surg Pathol 2016;40: 727-737
PMID 26975036
 
Melanotic Xp11 translocation Renal Cancers: A Distinctive Neoplasm with overlapping features of PEComa, Carcinoma, and Melanoma.
Argani P, Aulmann S, Karanjawala Z, Fraser RB, Ladanyi M, Rodriguez MM.
Am J Surg Pathol 2009; 33: 609-619
PMID 19065101
 
A Distinctive Subset of PEComas Harbor TFE3 Gene Fusions.
Argani P, Illei P, Netto G, Ro J, Cho HY, Dogan S, Ladanyi M, Martignoni G, Aulmann S, Weiss SW.
Am J Surg Pathol 2010; 34: 1395-1406.
PMID 20871214
 
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
 
Specific chromosome aberration in human renal cell carcinoma.
Kovacs G, Szücs S, De Riese W, Baumgärtel H
International journal of cancer. Journal international du cancer. 1987 ; 40 (2) : 171-178.
PMID 3610386
 

Citation

This paper should be referenced as such :
Argani P
Kidney: Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Tumors/tX1ID5056.html
History of this paper:
Huret, JL. Kidney: t(X;1)(p11.2;p34) in renal cell carcinoma. Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):101-102.
http://documents.irevues.inist.fr/bitstream/handle/2042/37520/01-1999-tX1ID5056.pdf


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

Genes SFPQ TFE3

Translocations implicated (Data extracted from papers in the Atlas)

 t(X;1)(p11;p34) SFPQ/TFE3

External links

Mitelman database t(X;1)(p11;p34) SFPQ/TFE3 [Case List]    t(X;1)(p11;p34) SFPQ/TFE3 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C64) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseKidney: Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE3
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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