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

2016-08-01   Pedram Argani 

1.Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) pargani@jhmi.edu.
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Summary

Note

must not be confused with the t(X;1)(p11.2;q21), also found in renal cell carcinoma

Abstract

Review on Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE3, with data on clinics, and the genes involved.

Classification

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

Phenotype stem cell 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 description

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 description

Contains RNA binding domains; involved in pre-m RNA splicing; form complexes with DNA topoisomerase I.

Result of the chromosomal anomaly

Description

5 SFPQ - 3 TFE3
Atlas Image

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

Pubmed IDLast YearTitleAuthors
257583272015MiT family translocation renal cell carcinoma.Argani P et al
269750362016TFE3-Fusion Variant Analysis Defines Specific Clinicopathologic Associations Among Xp11 Translocation Cancers.Argani P et al
190651012009Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma.Argani P et al
208712142010A distinctive subset of PEComas harbors TFE3 gene fusions.Argani P et al
85273831995Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations.Dijkhuizen T et al
36103861987Specific chromosome aberration in human renal cell carcinoma.Kovacs G et al

Citation

Pedram Argani

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

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/5056/kidney-renal-cell-carcinoma-with-t(x;1)(p11;p34)-sfpq-tfe3

Historical Card

1999-01-01 Kidney: Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE3 by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France