Fibroblast growth factor receptor gene alterations in urothelial carcinoma:a preliminary study
SUN Ming-chen
WU Sha-fei
CAI Yu-meng
LIU Yuan-yuan
LI Kai-mi
ZENG Ling-li
ZHAO Da-chun
ZENG Xuan
Abstract:Objective To investigate fibroblast growth factor receptor(FGFR)gene alteration in urothelial carcinoma(UC)patients which will contribute to identifying beneficiaries from FGFR inhibitors and develop gene detection strate-gies.Methods Total 40 formalin-fixed paraffin-embedded tissue samples from urothelial carcinoma were analyzed for FGFR gene abnormality using next generation sequencing.Results FGFR gene mutations were found in 10 of 40 cases(25.0%),including 1 FGFR2 M538I,4 FGFR3 S249C,2 FGFR3 R248C,1 FGFR3 Y373C,1 FGFR3 G548R and 1 FGFR3 Y373C/FGFR4 K186M double mutation cases.Among FGFR-mutant tumors,UC with G548R or K186M mutation had not been reported to date.Conclusion Urothelial carcinoma harbores rare FGFR variants,which epidemiology and biological significance needs to be elucidated and further explored in a larger study cohort.
Keywords:Urothelial carcinomaFGFRGenesMutationNGS
Publication Date:2024-08-28
Online Publishing Date:2025-08-15(First online date of this platform, not the publication date of the document)
Pages:4( 752-755 )
Chinese Journal of Diagnostic Pathology

Chinese Journal of Diagnostic Pathology

ISTIC
ISSN:1007-8096
Year, Vol.(Issue):2024,31(8)