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Kidney: Primary renal t(X;17)(p11;q25) ASPSCR1/TFE3 tumor

Identity

Phylum Urinary system:Kidney:Pediatric tumor:Primary renal ASPSCR1TFE3 tumor

Classification

Note 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

Disease previously diagnosed as papillary renal cell carcinoma, they share cytogenetic features with alveolar soft part sarcoma, and they exibit pathological characteristics of one or the other tumours, or intermediate features.
Epidemiology mainly found in young patients (1.5 yr to 17 yrs in a series).
 
High-power image showing typical clear cells with voluminous cytoplasm and a large psammoma body - Courtesy Matt Burtelow and Charles D. Bangs
 
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 relatively indolent clinical course.

Cytogenetics

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, if not all, the cases
t(X;17)(p11;q25) G- banding: - Courtesy Charles D. Bangs

Genes involved and Proteins

Gene Name TFE3
Location Xp11
Dna / Rna 8 exons
Protein 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
Location 17q25
Protein 476 amino acids; contains an UBX domain

Result of the chromosomal anomaly

Hybrid Gene
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
Fusion Protein
Description NH2 term from ASPSCR1, fused to the C term of TFE3, including the activation domain, the helix-loop-helix, and the leucine zipper from TFE3
  

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

Genes ASPSCR1 TFE3

Translocations implicated (Data extracted from papers in the Atlas)

 t(X;17)(p11;q25) ASPSCR1/TFE3

External links

Mitelman database
t(X;17)(p11;q25) - Mitelman database (CGAP - NCBI)
COSMICHisto = - Site = kidney (COSMIC)

Bibliography

Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint.
Tomlinson GE, Nisen PD, Timmons CF, Schneider NR
Cancer genetics and cytogenetics. 1991 ; 57 (1) : 11-17.
PMID 1684532
 
Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25).
Hernandez-Martˆ‚ MJ, Orellana-Alonso C, Badˆ‚a-Garrabou L, Verdeguer Miralles A, Paradˆ‚s-Alˆ„s A
Cancer genetics and cytogenetics. 1995 ; 83 (1) : 82-83.
PMID 7656211
 
Primary 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, Antonescu CR, Illei PB, Lui MY, Timmons CF, Newbury R, Reuter VE, Garvin AJ, Perez-Atayde AR, Fletcher JA, Beckwith JB, Bridge JA, Ladanyi M
The American journal of pathology. 2001 ; 159 (1) : 179-192.
PMID 11438465
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

Contributor(s)

Written08-2001Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret, JL
Kidney: Primary renal ASPSCR1-TFE3 t(X;17)(p11;q25) tumor
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):300-303.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Tumors/RenalASPSCR1TFE3ID5126.html

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indexed on : Fri Sep 5 13:17:28 CEST 2014


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