Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3

2001-08-01   Jean-Loup Huret 

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

Abstract

Review on Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3, with data on clinics, and the genes involved.

Classification

Atlas Image
Low power image of t(X;17) renal carcinoma section showing characteristic alveolar pseudopapillary architecture with dark staining psammomatous calcifications - Courtesy Matt Burtelow and Charles D. Bangs

Clinics and Pathology

Epidemiology

Median age is 13 years (1.5 yr to 75 years). Male: Female ratio is 16:25. A subset of cases are associated with prior exposure to cytotoxic chemotherapy.
Atlas Image
High-power image showing typical clear cells with voluminous cytoplasm and a large psammoma body - Courtesy Matt Burtelow and Charles D. Bangs

Pathology

These tumors typically demonstrate papillary to alveolar architecture, voluminous clear cytoplasm, and abundant psammoma bodies.
Atlas Image
Hilar lymph node section showing replacement of normal nodal structure by nests of metastatic renal cell carcinoma - Courtesy Matt Burtelow and Charles D. Bangs

Treatment

Surgery.

Prognosis

Regional lymph nodes are involved in 75% of cases; however, young patients with regional node metastasis have a relatively indolent clinical course. Patients who present with distant metastases do poorly.

Cytogenetics

Atlas Image
t(X;17)(p11;q25) G- banding: - Courtesy Charles D. Bangs

Cytogenetics morphological

Balanced t(X;17)(p11.2;q25). This is in contrast with what is found in the alveolar soft part sarcoma where the tranlocation t(X;17)(p11.2;q25) involves the same breakpoints and the same genes, but is found unbalanced in most cases.

Genes Involved and Proteins

Gene name

TFE3 (transcription factor E3)

Location

Xp11.23

Dna rna description

8 exons.

Protein description

Transcription factor; member of the basic helix-loop-helix family (b-HLH) of transcription factors primarily found to bind to the immunoglobulin enchancer muE3 motif.

Gene name

ASPSCR1 (Alveolar soft part sarcoma critical region 1)

Location

17q25.3

Protein description

476 amino acids; contains an UBX domain.

Result of the chromosomal anomaly

Description

5 ASPSCR1-3 TFE3;. ASPSCR1 is fused in frame to TFE3 exon 3 or 4 the reciprocal 5 TFE3 - 3 ASPSCR1 may or may not be transcribed

Bibliography

Pubmed IDLast YearTitleAuthors
114384652001Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents.Argani P et al
165750032006Translocation carcinomas of the kidney after chemotherapy in childhood.Argani P et al
243093272014Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage.Ellis CL et al
76562111995Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25).Hernandez-Martí MJ et al
16845321991Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint.Tomlinson GE et al

External Links

Citation

Jean-Loup Huret

Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3

Atlas Genet Cytogenet Oncol Haematol. 2001-08-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/5126/kidney-renal-cell-carcinoma-with-t(x;17)(p11;q25)-aspscr1-tfe3

Historical Card

0000-00-00 Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3 by  Pedram Argani 

Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) pargani@jhmi.edu.