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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors
Chunwei Xu1,2, Bin Lian3, Juanjuan Ou4
1Department of Scientific Research, Institute of Cancer and Basic Medicine (ICBM), Chinese Academy of Sciences, Hangzhou Zhejiang 310022, People's Republic of China.
Abstract:
The fibroblast growth factor receptor (FGFR) is a crucial receptor tyrosine kinase involved in essential biological processes, including growth, development, and tissue repair. However, FGFR gene mutations, including amplification, fusion, and mutation, can disrupt epigenetics, transcriptional regulation, and tumor microenvironment interactions, leading to cancer development. Targeting these kinase mutations with small molecule drugs or antibodies has shown clinical benefits. For example, erdafitinib is approved for treating locally advanced or metastatic urothelial cancer patients with FGFR2/FGFR3 mutations, and pemigatinib is approved for treating cholangiocarcinoma with FGFR2 fusion/rearrangement. Effective screening of FGFR variant patients is crucial for the clinical application of FGFR inhibitors. Various detection methods, such as polymerase chain reaction, next-generation sequencing, fluorescence in situ hybridization, and immunohistochemistry, are available, and their selection should be based on diagnostic and treatment decision-making needs. Our developed expert consensus aims to standardize the diagnosis and treatment process for FGFR gene mutations and facilitate the practical application of FGFR inhibitors in clinical practice.
Insights
Fibroblast growth factor receptor (FGFR) mutations drive cancer, but FGFR inhibitors offer clinical benefits. Standardizing diagnostic and treatment approaches for FGFR variants is essential for effective targeted therapy.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Fibroblast growth factor receptor (FGFR) is a receptor tyrosine kinase vital for normal cellular functions.
- Aberrant FGFR signaling, through mutations, fusions, or amplifications, contributes to various cancers.
- Targeted therapies like FGFR inhibitors have demonstrated clinical efficacy in specific cancer types.
Purpose of the Study:
- To establish an expert consensus for standardizing the diagnosis and treatment of FGFR gene mutations.
- To facilitate the clinical application of FGFR inhibitors in cancer patients.
- To guide the selection of appropriate detection methods for FGFR variants.
Main Methods:
- Review of current literature on FGFR mutations and targeted therapies.
- Expert panel discussions to reach a consensus on diagnostic and treatment strategies.
- Evaluation of various detection methods including PCR, NGS, FISH, and IHC.
Main Results:
- FGFR alterations are implicated in cancer development by disrupting epigenetic and transcriptional regulation.
- Approved FGFR inhibitors (erdafitinib, pemigatinib) show efficacy in specific FGFR-mutated cancers.
- Effective screening for FGFR variants is critical for patient selection.
Conclusions:
- Standardized diagnostic and treatment protocols for FGFR mutations are needed.
- Expert consensus aims to optimize the use of FGFR inhibitors in clinical practice.
- Appropriate selection of detection methods is key for guiding treatment decisions.
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