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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Molecular genetics in the diagnosis and prognosis of solid pediatric tumors
1Department of Pediatric Laboratory Medicine, Division of Pathology, Hospital for Sick Children and the University of Toronto, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
Abstract:
The field of molecular genetics continues to see an ever increasing number of applications to pediatric tumor analysis. Studies in pediatric tumors have identified novel genes and other genetic changes, a large number of which reflect one of the following mechanisms: (1) activation of proto-oncogenes; (2) loss of tumor suppressor genes; or (3) creation of novel fusion proteins. At least one of these mechanisms is operational in each of the following pediatric tumors: neuroblastoma, Ewing sarcoma and peripheral primitive neuroectodermal tumor (pPNET), intra-abdominal desmoplastic small-cell tumor, rhabdomyosarcoma, synovial sarcoma, and Wilms tumor. Out of this research has come not only an increased understanding of oncogenesis but also, for each of the tumors listed above, diagnostic and/or prognostic markers that can be used by the pathologist and oncologist to improve overall patient management.
Insights
Molecular genetics advances pediatric tumor analysis by identifying genetic changes like proto-oncogene activation and tumor suppressor gene loss. These findings yield crucial diagnostic and prognostic markers for improved patient management in childhood cancers.
Area of Science:
- Pediatric Oncology
- Molecular Genetics
- Cancer Genomics
Background:
- Molecular genetics is increasingly applied to pediatric tumor analysis.
- Studies reveal common genetic mechanisms in childhood cancers, including proto-oncogene activation, tumor suppressor gene loss, and novel fusion proteins.
Purpose of the Study:
- To review the application of molecular genetics in understanding pediatric tumors.
- To highlight the genetic alterations driving specific pediatric cancers.
- To emphasize the development of diagnostic and prognostic markers.
Main Methods:
- Review of molecular genetic studies in pediatric tumors.
- Identification of recurring genetic mechanisms across various tumor types.
- Correlation of genetic findings with clinical applications.
Main Results:
- Novel genes and genetic alterations identified in pediatric tumors.
- Key mechanisms include proto-oncogene activation, tumor suppressor gene loss, and fusion proteins.
- Specific pediatric tumors analyzed include neuroblastoma, Ewing sarcoma/pPNET, desmoplastic small-cell tumor, rhabdomyosarcoma, synovial sarcoma, and Wilms tumor.
Conclusions:
- Molecular genetic insights enhance the understanding of pediatric oncogenesis.
- Diagnostic and prognostic markers derived from this research improve patient management for pediatric tumors.
- Continued research in molecular genetics is vital for advancing pediatric cancer care.
