The family of fibroblast growth factor (FGFs) and their receptors (FGFRs)
regulates vital roles in many biological processes affecting cell proliferation, migration,
differentiation and survival. Deregulation of the FGF/FGFR signaling pathway in cancers has
been better understood and the main molecular mechanisms responsible for the activation of this pathway are
gene mutations, gene fusions and gene amplification. DNA and RNA-based technologies have been used to
detect these abnormalities, especially in FGFR1, FGFR2 and FGFR3 and tests have been developed for their
detection, but no assay has been proved ideal for molecular diagnosis. Interestingly, the increase in the
molecular biology knowledge has supported and assisted the development of therapeutic drugs targeting the
most important components of this pathway. Multi- and selective tyrosine kinase inhibitors (TKIs) as well as
monoclonal antibodies anti-FGFR are under investigation in preclinical and clinical trials. In this article, we
reviewed those aspects with special emphasis on the pathway genomic alterations related to solid tumors, and
the molecular diagnostic assays potentially able to stratify patients for the treatment with FGFR TKIs.
Keywords: FGFR, FGF, gene mutation, gene amplification, gene fusion, fluorescence in situ hybridization.
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