Masson-Lecomte A, Vordos D, de la Taille A, Neuzillet Y, Radvanyi F, Allory Y
Inserm U955 équipe 7, service d'urologie, université Paris-Est Créteil, CHU Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94000 Créteil, France.
Prog Urol. 2013 Feb;23(2):96-8. doi: 10.1016/j.purol.2012.12.003. Epub 2013 Jan 5.
FGFR3 mutation leads to a constitutive activation of the receptor 3 to Fibroblast Growth Factor. This mutation is early in urothelial carcinogenesis and is strongly associated to low grade papillary tumors. Multiple regional epigenetic silencing (MRES) phenotype corresponds to the transcriptional inactivation of chromosomal regions in muscle invasive bladder cancer, and is strongly associated to the molecular signature of carcinoma in situ. These alterations could be targeted by new specific therapies.
FGFR3突变导致成纤维细胞生长因子受体3的组成性激活。这种突变在尿路上皮癌发生早期出现，且与低级别乳头状肿瘤密切相关。多重区域表观遗传沉默（MRES）表型对应于肌肉浸润性膀胱癌中染色体区域的转录失活，并且与原位癌的分子特征密切相关。这些改变可能是新的特异性疗法的靶点。
