| Written | 2016-08 | Pedram Argani |
| Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) pargani@jhmi.edu. |
| This article is an update of : |
| 1999-01 | Jean-Loup Huret | |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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::Renal cell carcinoma |
| WHO/OMS Classification | Urinary system |
| 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 (transcription factor E3) |
| Location | Xp11.23 |
| 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 (PTB-associated splicing factor) |
| Location | 1p34.3 |
| 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 : |
| Pedram Argani |
| Kidney: Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE3 |
| Atlas Genet Cytogenet Oncol Haematol. 2017;21(8):306-307. |
| Free journal version : [ pdf ] [ DOI ] |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 19:00:48 CET 2020 |
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