Trisomy 7 and 17 mark papillary renal cell tumours irrespectively of variation of the phenotype

Ildiko Balint ¹, Adrianna Szponar ¹, Anna Jauch ² and Gyula Kovacs ^1*

¹ Laboratory of Molecular Oncology, Medical Faculty, University of Heidelberg, Germany
² Institute of Human Genetics, Medical Faculty, University of Heidelberg, Germany

^* To whom correspondence should be addressed. E-mail: gyula.kovacs{at}urz.uni-heidelberg.de.

Accepted 27 May 2009

Abstract

Background: Papillary renal cell tumours (RCT) have been described as a genetic entity. Recently, papillary RCTs are divided into small (type 1) and large (type 2) cell tumours. Subsequent DNA analyses resulted in controversial data regarding putative genetic changes marking type 1 and type 2 tumours.

Aim: The aim of this study was to improve our original description, that papillary RCT is a genetic entity regardless of the phenotypic variation.

Methods: We have analysed DNA from 163 papillary RCTs including 82 multiplex tumours from 8 hereditary cases for copy number changes by chromosomal CGH and/or for allelic changes at chromosome 7 and 17 by microsatellites and compared the results of genetic analysis to the cytological characteristics of tumours.

Results: We have detected alterations of chromosome 7 and 17 at similar frequency in papillary RCTs from small to large cell characteristics, from nuclear grade 1 to 3 and from 3 mm to 16 cm in diameter in size.

Conclusion: Trisomies of chromosomes 7 and 17 are specific genetic alterations in papillary RCTs irrespectively of their size, grade and cellular differentiation.