Prevalence and Implications of FGFR2 Mutations in Cancer and Craniosynostosis

FGFR2 mutations are prevalent in various cancers and syndromes, notably endometrial cancer and craniosynostosis, with significant implications for treatment and diagnosis.

FGFR2 Mutations in Cancer

FGFR2 mutations are implicated in a wide range of cancers, including endometrial, ovarian, and cholangiocarcinoma. These mutations often lead to the activation of signaling pathways that promote cancer progression. For instance, FGFR2 mutations are found in 10%–12% of endometrial cancers, making them a significant target for therapeutic intervention. In cholangiocarcinoma, FGFR2 fusions occur in 5% to 7% of cases, with a higher prevalence in intrahepatic cholangiocarcinomas. The presence of these mutations can influence treatment strategies, as they may confer resistance to certain therapies.

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FGFR2 in Craniosynostosis

FGFR2 mutations are a major cause of craniosynostosis, a condition characterized by the premature fusion of skull bones. These mutations are found in 95% of patients with Crouzon syndrome, a type of craniosynostosis. The mutations typically occur in the extracellular IgIII domain encoded by exons 8 or 10. Understanding these mutations is crucial for diagnosing and managing craniosynostosis, as they can guide surgical and medical interventions.

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FGFR2 in Endometrial Cancer

In endometrial cancer, FGFR2 mutations are prevalent, occurring in 10%–12% of cases. These mutations are significant because they can drive cancer progression by engaging signaling pathways such as EGFR and Notch. The presence of FGFR2 mutations can influence the effectiveness of targeted therapies, as not all mutations are equally responsive to treatment. Understanding the role of FGFR2 mutations in endometrial cancer is essential for developing personalized treatment plans.

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FGFR2 in Melanoma

FGFR2 mutations have been identified in melanoma, with novel mutations reported in a study of melanoma cell lines. These mutations can affect the structure and function of the FGFR2 protein, potentially influencing cancer progression and response to treatment. The presence of FGFR2 mutations in melanoma highlights the need for further research to understand their implications for diagnosis and therapy.

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