FGFR3是致癌基因，编码蛋白是一种受体酪氨酸激酶，是成纤维细胞生长因子受体（FGFR）家族的成员。FGF配体与FGFR3的结合导致下游信号传导途径的快速二聚化和激活，包括PI3K/AKT和MAPK途径。FGFR3在神经元和感觉细胞类型中表达最高，并且FGFR3信号传导有助于多种细胞功能，包括增殖，分化，细胞迁移和凋亡。FGFR3基因的产生两种同种型FGFR3b和FGFR3c，其具有独特的组织表达模式和配体结合特异性。FGFR3的胚系突变与颅缝早闭症的综合征有关（除了皮肤和毛囊病症之外还以骨发育异常为特征）。在70％的膀胱癌和少数的其他实体瘤中发现了FGFR3的体细胞激活突变。15％多发性骨髓瘤的患者中发现FGFR3易位，导致FGFR3的组成型表达。在各种癌症中的突变，FGFR3主要是通过染色体重排或扩增而改变，最常见于膀胱癌。

FGFR3 is a receptor tyrosine kinase that is a member of the fibroblast growth factor receptor (FGFR) family. Binding of FGF ligands to FGFR3 results in the rapid dimerization and activation of downstream signaling pathways including the PI3K/AKT and MAPK pathways. FGFR3 is most highly expressed in neuronal and sensory cell types and FGFR3 signaling contributes to a variety of cellular functions including proliferation, differentiation, cell migration and apoptosis. Alternative splicing events in the FGFR3 gene generate two isoforms, FGFR3b and FGFR3c, which have unique tissue expression patterns and ligand-binding specificity. Germline mutations in FGFR3 have been identified in syndromes of craniosynostosis, which are characterized by abnormal bone development, in addition to skin and hair follicle disorders. Somatic activating mutations in FGFR3 have been identified in up to 70% of bladder cancers and in a low percentage of other solid tumor types. In addition, a specific FGFR3 translocation is observed in approximately 15% of patients with multiple myeloma, resulting in constitutive expression of FGFR3.

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