Atlas of Genetics and Cytogenetics in Oncology and Haematology
Kidney: Primary renal ASPSCR1-TFE3 t(X;17)(p11;q25) tumor
| Classification |
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| 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). |
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| High-power image showing typical clear cells with voluminous cytoplasm and a large psammoma body - Courtesy Matt Burtelow and Charles D. Bangs | |
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| 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 |
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| 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 |
| 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 Genet Cytogenet 1991; 57: 11-17. |
| PMID 92097042 |
| Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25). |
| Hernandez-Marti MJ, Orellana-Alonso C, Badia-Garrabou L, Verdeguer Miralles A, Paradis-Alos A. |
| Cancer Genet Cytogenet 1995; 83: 82-83. |
| PMID 95384970 |
| 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. |
| Am J Pathol 2001; 159: 179-192. |
| PMID 21331068 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 08-2001 | Jean-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. August 2001 . URL : http://AtlasGeneticsOncology.org/Tumors/RenalASPSCR1TFE3ID5126.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Apr 17 14:14:46 2008 |
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