Fibroblast growth factor receptor () gene: pathogenesis and treatment implications in urothelial carcinoma of the bladder.

Khaleel I Al-Obaidy, Liang Cheng

Journal: Journal of clinical pathology 2021;74(8):491-495

PMID: 33731335

Abstract

Dysregulation of fibroblast growth factor receptors () has been implicated in several human malignancies, including urothelial carcinoma. In urothelial carcinoma, the oncogenic role of mutated is mediated by the RAS-mitogen-activated protein kinase pathway, resembling the effects observed with activated Activating somatic mutations of are clustered in three hotspots in exons 7, 10 and 15, and are almost always missense mutations leading to amino acid substitution in the external, transmembrane or intracellular regions of the receptor. A fusion of to transforming acid coiled-coil containing protein 3, amplification and alternative splicing leading to aberrant activation are less common molecular alterations. In April 2020, the Food and Drug Administration (FDA) approved the first targeted therapy, erdafitinib, in patients with locally advanced or metastatic bladder cancer who have progressed on platinum-based chemotherapy. Herein, we reviewed the normal structure and function of We also explored its role in the development of urothelial carcinoma and major developments in the -targeted therapy.

Address: Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA [email protected].; Department of Urology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

DOI: 10.1136/jclinpath-2020-207115