Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin
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Updated: Apr 7, 2026
Assessment of Resistance to Tyrosine Kinase Inhibitors by an Interrogation of Signal Transduction Pathways by Antibody Arrays
Published on: September 19, 2018
Laura M McDonell1, Kristin D Kernohan1, Kym M Boycott2
1Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Abstract:
Receptor tyrosine kinases (RTKs) are a family of ligand-binding cell surface receptors that regulate a wide range of essential cellular activities, including proliferation, differentiation, cell-cycle progression, survival and apoptosis. As such, these proteins play an important role during development and throughout life; germline mutations in genes encoding RTKs cause several developmental syndromes, while somatic alterations contribute to the pathogenesis of many aggressive cancers. This creates an interesting paradigm in which mutation timing, type and location in a gene leads to different cell signaling and biological responses, and ultimately phenotypic outcomes. In this review, we highlight the roles of RTKs in developmental disorders and cancer. The multifaceted roles of these receptors, their genetic signatures and their signaling during developmental morphogenesis and oncogenesis are discussed. Additionally, we propose that comparative analysis of RTK mutations responsible for developmental syndromes may shed light on those driving tumorigenesis.
Insights
Receptor tyrosine kinases (RTKs) are crucial for cell activities. Analyzing mutations in RTKs causing developmental disorders may reveal insights into cancer development.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- Receptor tyrosine kinases (RTKs) are cell surface receptors regulating vital cellular functions like proliferation, differentiation, and apoptosis.
- Mutations in RTK genes are implicated in developmental syndromes and the pathogenesis of aggressive cancers.
- The timing, type, and location of RTK mutations influence cell signaling, biological responses, and phenotypic outcomes.
Purpose of the Study:
- To review the roles of RTKs in developmental disorders and cancer.
- To discuss the multifaceted functions, genetic signatures, and signaling pathways of RTKs in development and oncogenesis.
- To propose comparative analysis of RTK mutations in developmental syndromes and cancer.
Main Methods:
- Literature review and synthesis of existing research on RTKs.
- Analysis of genetic mutations in RTKs associated with developmental syndromes and cancer.
- Discussion of RTK signaling pathways in the context of morphogenesis and oncogenesis.
Main Results:
- RTKs play critical roles in both embryonic development and cancer progression.
- Distinct mutation patterns in RTKs correlate with specific developmental syndromes and cancer types.
- RTK signaling pathways are conserved yet differentially regulated during development and oncogenesis.
Conclusions:
- Comparative analysis of RTK mutations in developmental disorders and cancer can provide valuable insights.
- Understanding RTK roles in development may illuminate therapeutic strategies for RTK-driven cancers.
- Further research into RTK genetic signatures and signaling is essential for both developmental biology and oncology.
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