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[Cancer Research 61, 4130-4135, May 15, 2001]
© 2001 American Association for Cancer Research

Regular Articles

Fusion of a Novel Gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing Papillary Renal Cell Carcinomas1

Pierre Heimann2, Hakim El Housni, Gönül Ogur, Marian A. J. Weterman, Elizabeth M. Petty and Gilbert Vassart

Department of Medical Genetics and Institute of Interdisciplinary Research, Faculty of Medicine, Free University of Brussels, 1070 Brussels, Belgium [P. H., H. E. H., G. O., G. V.]; Department of Human Genetics 417, University Hospital Nijmegen, 6500 HB Nijmegen, the Netherlands [M. A. J. W.]; and Departments of Human Genetics and Internal Medicine, University of Michigan Health System, Ann Arbor, Michigan 48109-0638 [E. M. P.]

A subset of childhood and young adult renal cell carcinomas displays a recurrent translocation t(X;17)(p11;q25) as the sole cytogenetic abnormality. In two young girls, we demonstrate that this translocation results in the fusion of a novel gene, designated RCC17, at chromosome 17q25, to the transcription factor TFE3 located on the Xp11 chromosomal region. In both cases, the t(X;17) fuses the NH2-terminal region of RCC17 to the COOH-terminal part of TFE3 including the basic helix-loop-helix DNA-binding domain and the leucine zipper dimerization domain. The reciprocal fusion transcript TFE3/RCC17 is also expressed. RCC17 encodes a putative protein of 553 amino acids. It is ubiquitously expressed in normal adult tissues. No significant similarity was found with other fusion partners of TFE3 or with any relevant functional protein domains, precluding informed speculation about the normal function of this gene.




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