Atlas of Genetics and Cytogenetics in Oncology and Haematology
Kidney: t(X;1)(p11.2;q21.2) in renal cell carcinoma
| Identity |
 | |
| t(X;1)(p11;q21) (G banding) - Courtesy Francois Desangles. |
| Classification |
| renal cell carcinoma (RCC) are classified into two main clinico-pathologic entities (chromophobic/oncocytic entity excluded): |
| Clinics and Pathology |
| Disease | renal cell carcinoma |
| Phenotype / cell stem origin | t(X;1) is found in papillary renal cell carcinoma (WHO classification) |
| Epidemiology | 12 reported cases, herein reviewed; mean age 16 yrs (range 1-30); sex ratio: 7M/5F (female cases are found, contrarily to what has previously been suspected) |
| Pathology | t(X;1) appears to delineate a distinct subgroup of chromophilic papillary renal cell carcinoma with clear cell features. |
| Treatment | radical nephrectomy |
| Prognosis | similar to that of others papillary renal cell carcinoma i. e. overall 5-yr survival rate around 85%. |
| Cytogenetics |
| Cytogenetics Molecular | +7, +17 |
| Probes | TFE3 and PRCC/TFE3 |
| Variants | t(X;17)(p11.2;q25) and t(X;1)(p11.2; p34) |
| Genes involved and Proteins |
| Gene Name | TFE3 |
| Location | Xp11.2 |
| Protein | transcription factor; binds to the immunoglobulin enhancer |
| Gene Name | PRCC |
| Location | 1q21.2 |
| Protein | 491aa; widely expressed ; proline rich. |
| Result of the chromosomal anomaly |
| Hybrid Gene | |
| Description | 5' TFE3 - 3' PRCC and 5' PRCC - 3' TFE3 |
| Detection | positional cloning; screening in a tumor cDNA library and hybridization with TFE3 |
| Fusion Protein | |
| Description | PRCC/TFE3 fusion protein includes the transcription activating, helix-loop-helix and leucine-zipper domains of TFE3; the TFE3/PRCC fusion protein (513 amino acids) is also expressed |
| To be noted |
| We have had a t(X;1) case in a non-papillay renal cell carcinoma, suggesting that t(X;1) is not restricted to the papillary subtype of RCC (unpublished). |
| Bibliography |
| Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNA. |
| Auffray C, Rougeon F |
| European journal of biochemistry / FEBS. 1980 ; 107 (2) : 303-314. |
| PMID 6772444 |
| Cytogenetics of a renal adenocarcinoma in a 2-year-old child. |
| de Jong B, Molenaar IM, Leeuw JA, Idenberg VJ, Oosterhuis JW |
| Cancer genetics and cytogenetics. 1986 ; 21 (2) : 165-169. |
| PMID 3004698 |
| 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 |
| Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype. |
| Meloni AM, Dobbs RM, Pontes JE, Sandberg AA |
| Cancer genetics and cytogenetics. 1993 ; 65 (1) : 1-6. |
| PMID 8431910 |
| Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations. |
| Dijkhuizen T, van den Berg E, Wilbrink M, Weterman M, Geurts van Kessel A, Strkel S, Folkers RP, Braam A, de Jong B |
| Genes, chromosomes & cancer. 1995 ; 14 (1) : 43-50. |
| PMID 8527383 |
| Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. |
| Weterman MA, Wilbrink M, Geurts van Kessel A |
| Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (26) : 15294-15298. |
| PMID 8986805 |
| Papillary (chromophil) renal cell carcinoma: histomorphologic characteristics and evaluation of conventional pathologic prognostic parameters in 62 cases. |
| Amin MB, Corless CL, Renshaw AA, Tickoo SK, Kubus J, Schultz DS |
| The American journal of surgical pathology. 1997 ; 21 (6) : 621-635. |
| PMID 9199639 |
| Cytogenetic classification of renal cell cancer. |
| van den Berg E, Dijkhuizen T, Oosterhuis JW, Geurts van Kessel A, de Jong B, Strkel S |
| Cancer genetics and cytogenetics. 1997 ; 95 (1) : 103-107. |
| PMID 9140459 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 03-1998 | Franois Desangles |
| Citation |
| This paper should be referenced as such : |
| Desangles F . Kidney: t(X;1)(p11.2;q21.2) in renal cell carcinoma. Atlas Genet Cytogenet Oncol Haematol. March 1998 . URL : http://AtlasGeneticsOncology.org/Genes/tX1ID5009.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Aug 11 21:22:43 2008 |
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