BACKGROUND: Somatic point mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in certain types of urological cancers, especially urothelial carcinoma of the bladder and the renal pelvis, and could be correlated with a favourable outcome. However, comprehensive data on the FGFR3 mutation status in renal cell carcinoma (RCC) are still missing. METHODS: In order to investigate a possible role for FGFR3 mutations in renal cell carcinogenesis, we performed a sequence-based mutational analysis of FGFR3 in 238 primary RCC. The cohort obtained the common RCC subtypes including 101 clear cell, 50 papillary and 68 chromophobe RCC specimens. The analysed regions encompassed all FGFR3 point mutations previously described in epithelial tumours and other noncutaneous epithelial malignancies. RESULTS: No mutations were detected in any renal tumour type examined, and all cases showed wild-type sequence. CONCLUSION: Our results argue against an involvement of mutational activation of FGFR3 in the development of RCC. A recently described cystic renal dysplasia in a patient with thanatophoric dysplasia type 1 due to a germ line FGFR3 mutation might portend to an involvement of mutational FGFR3 activation in renal cyst formation, but this speculation needs further evaluation.
BACKGROUND: Somatic point mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in certain types of urological cancers, especially urothelial carcinoma of the bladder and the renal pelvis, and could be correlated with a favourable outcome. However, comprehensive data on the FGFR3 mutation status in renal cell carcinoma (RCC) are still missing. METHODS: In order to investigate a possible role for FGFR3 mutations in renal cell carcinogenesis, we performed a sequence-based mutational analysis of FGFR3 in 238 primary RCC. The cohort obtained the common RCC subtypes including 101 clear cell, 50 papillary and 68 chromophobe RCC specimens. The analysed regions encompassed all FGFR3 point mutations previously described in epithelial tumours and other noncutaneous epithelial malignancies. RESULTS: No mutations were detected in any renal tumour type examined, and all cases showed wild-type sequence. CONCLUSION: Our results argue against an involvement of mutational activation of FGFR3 in the development of RCC. A recently described cystic renal dysplasia in a patient with thanatophoric dysplasia type 1 due to a germ line FGFR3 mutation might portend to an involvement of mutational FGFR3 activation in renal cyst formation, but this speculation needs further evaluation.
Authors: Johanna M M van Oers; Irene Lurkin; Antonius J A van Exsel; Yvette Nijsen; Bas W G van Rhijn; Madelon N M van der Aa; Ellen C Zwarthoff Journal: Clin Cancer Res Date: 2005-11-01 Impact factor: 12.531
Authors: Roman K Thomas; Alissa C Baker; Ralph M Debiasi; Wendy Winckler; Thomas Laframboise; William M Lin; Meng Wang; Whei Feng; Thomas Zander; Laura MacConaill; Laura E Macconnaill; Jeffrey C Lee; Rick Nicoletti; Charlie Hatton; Mary Goyette; Luc Girard; Kuntal Majmudar; Liuda Ziaugra; Kwok-Kin Wong; Stacey Gabriel; Rameen Beroukhim; Michael Peyton; Jordi Barretina; Amit Dutt; Caroline Emery; Heidi Greulich; Kinjal Shah; Hidefumi Sasaki; Adi Gazdar; John Minna; Scott A Armstrong; Ingo K Mellinghoff; F Stephen Hodi; Glenn Dranoff; Paul S Mischel; Tim F Cloughesy; Stan F Nelson; Linda M Liau; Kirsten Mertz; Mark A Rubin; Holger Moch; Massimo Loda; William Catalona; Jonathan Fletcher; Sabina Signoretti; Frederic Kaye; Kenneth C Anderson; George D Demetri; Reinhard Dummer; Stephan Wagner; Meenhard Herlyn; William R Sellers; Matthew Meyerson; Levi A Garraway Journal: Nat Genet Date: 2007-02-11 Impact factor: 38.330
Authors: Christian Hafner; Johanna M M van Oers; Thomas Vogt; Michael Landthaler; Robert Stoehr; Hagen Blaszyk; Ferdinand Hofstaedter; Ellen C Zwarthoff; Arndt Hartmann Journal: J Clin Invest Date: 2006-08 Impact factor: 14.808
Authors: Christine Spiegelberg; Johannes Giedl; Nadine T Gaisa; Anja Rogler; Marc-Oliver Riener; Thomas Filbeck; Maximilian Burger; Petra Ruemmele; Arndt Hartmann; Robert Stoehr Journal: Int J Clin Exp Pathol Date: 2014-03-15