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case in a non-papillay renal cell carcinoma, suggesting that t(X;1) is not restricted to the papillary subtype of RCC (unpublished).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 |
| Eur J Biochem. 1980 Jun;107(2):303-14 |
| PMID 80246001 |
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| de Jong B, Molenaar IM, Leeuw JA, Idenberg VJ, Oosterhuis JW |
| Cancer Genet Cytogenet. 1986 Mar 15;21(2):165-9. |
| PMID 86133180 |
| 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 Nov;57(1):11-7. |
| PMID 92097042 |
| Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype |
| Meloni AM, Dobbs RM, Pontes JE, Sandberg AA |
| Cancer Genet Cytogenet. 1993 Jan;65(1):1-6. |
| PMID 93161312 |
| 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, Storkel S, Folkers RP, Braam A, de Jong B |
| Genes Chromosomes Cancer. 1995 Sep;14(1):43-50. Review. |
| PMID 96076342 |
| 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 |
| Proc Natl Acad Sci U S A. 1996 Dec 24;93(26):15294-8 |
| PMID 97140324 |
| 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 |
| Am J Surg Pathol. 1997 Jun;21(6):621-35 |
| PMID 97343010 |
| Cytogenetic classification of renal cell cancer |
| van den Berg E, Dijkhuizen T, Oosterhuis JW, Geurts van Kessel A, de Jong B, Storkel S |
| Cancer Genet Cytogenet. 1997 May;95(1):103-7. Review |
| PMID 97285186 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 03-1998 | FranÁois 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/Tumors/tX1ID5009.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Apr 17 14:15:07 2008 |
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