Mutational activation of FGFR3: no involvement in the development of renal cell carcinoma.
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.


CONCLUSIONS
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.
Institute of Pathology, University Hospital Erlangen, Erlangen, Germany.
C G
CG
Stoehr
R
R
Stoehr
A
A
Hartmann
F
F
Hofstaedter
K
K
Junker
H
H
Blaszyk
W F
WF
Wieland
W
W
Otto
S
S
Denzinger
B
B
Walter
D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000378:metabolism*; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics* / Q000378:metabolism*; D013796:Thanatophoric Dysplasia / Q000235:genetics / Q000378:metabolism
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3