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Tumor Predisposition Syndromes: An Imaging Review.
Carlos Robles1, Suzanne Laughlin2, Vivek Pai2
1Division of Neuroradiology, Department of Diagnostic and Interventional Radiology, University of Chile Clinical Hospital, Av. Santos Dumont 999, Independencia, Santiago, Región Metropolitana, 8380456, Chile; Division of Neuroradiology, Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada; Department of Medical Imaging, Temerty Faculty of Medicine, University of Toronto, 263 McCaul Street, 4th floor, Toronto, ON M5T 1W7, Canada; Department of Radiology, University of Chile, Av. Independencia 1027, Independencia, Santiago, Región Metropolitana, 8380456, Chile.
Tumor predisposition syndromes (TPS) are inherited conditions causing various cancers, including pediatric brain tumors. This review details CNS imaging findings and genomic alterations associated with these syndromes.
Area of Science:
- Oncology
- Genetics
- Radiology
Background:
- Tumor predisposition syndromes (TPS) account for a significant portion of all cancers and pediatric central nervous system (CNS) tumors.
- These inherited syndromes present with distinct patterns of neoplasms across the body.
- Effective surveillance necessitates targeted, region-specific imaging approaches.
Purpose of the Study:
- To review the characteristic CNS imaging features of various tumor predisposition syndromes.
- To correlate these imaging findings with the underlying genomic alterations driving tumor development.
- To provide insights for clinicians managing patients with TPS.
Main Methods:
- Literature review focusing on CNS imaging findings in tumor predisposition syndromes.
- Integration of current knowledge on cancer genomics and molecular pathways.
- Synthesis of radiological and genetic information relevant to TPS.
Main Results:
- Detailed description of characteristic CNS imaging manifestations for common TPS.
- Explanation of the genetic basis and molecular mechanisms underlying these syndromes.
- Highlighting the importance of molecular profiling in guiding diagnosis and treatment.
Conclusions:
- CNS imaging plays a critical role in the early detection and surveillance of TPS.
- Understanding the genomic landscape of TPS enables targeted therapies.
- Multidisciplinary management integrating radiology and genetics is essential for optimal patient outcomes.
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