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

Written2001-08Jean-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;17)(p11;q25) ASPSCR1/TFE3, with data on clinics, and the genes involved.

Identity

ICD-Topo C649 KIDNEY
ICD-Morpho 8260/3 Papillary adenocarcinoma, NOS Xp11 translocation carcinomas
Atlas_Id 5126
Phylum Urinary system:Kidney:Pediatric tumor: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3

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 ASPSCR1/TFE3 renal cell carcinomas harbor the same gene fusion as alveolar soft part sarcoma, but belong to the family of Xp11 translocation RCC. 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.
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.
 
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.
 
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

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.
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.
  

Bibliography

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
 
Translocation carcinomas of the kidney following chemotherapy in childhood.
Argani P, Lae M, Ballard ET, Amin M, Manivel C, Hutchinson B, Reuter VE, Ladanyi M.
J Clin Oncol 2006; 24: 1529-1534.
PMID 16575003
 
Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age and stage
Ellis CL, Eble JN, Subhawong AP, Martignoni G, Zhong M, Ladanyi M, Epstein JI, Netto GJ, Argani P.
Modern Pathology 2014;27: 875-886
PMID 24309327
 
Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25).
Hernandez-Martí MJ, Orellana-Alonso C, Badía-Garrabou L, Verdeguer Miralles A, Paradís-Alós A
Cancer genetics and cytogenetics. 1995 ; 83 (1) : 82-83.
PMID 7656211
 
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
 

Citation

This paper should be referenced as such :
Argani P
Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Tumors/RenalASPSCR1TFE3ID5126.html
History of this paper:
Huret, JL. Kidney: Primary renal ASPSCR1-TFE3 t(X;17)(p11;q25) tumor. Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):300-303.
http://documents.irevues.inist.fr/bitstream/handle/2042/37798/08-2001-RenalASPSCR1TFE3ID5126.pdf


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

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) ASPSCR1/TFE3 [Case List]    t(X;17)(p11;q25) ASPSCR1/TFE3 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C64) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseASPSCR1/TFE3[MCList]    ASPSCR1 (17q25.3) TFE3 (Xp11.23)   t(X;17)(p11;q25)
TICdbASPSCR1/TFE3    ASPSCR1 (17q25.3) TFE3 (Xp11.23)
 
Disease databaseKidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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