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Updated: Jun 25, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Molecular Alterations in Pediatric Solid Tumors
Jonathan C Slack1, Alanna J Church2
1Pathology & Laboratory Medicine Institute (Robert J. Tomsich), Cleveland Clinic, Cleveland, OH, USA.
Abstract:
Pediatric tumors can be divided into hematologic malignancies, central nervous system tumors, and extracranial solid tumors of bone, soft tissue, or other organ systems. Molecular alterations that impact diagnosis, prognosis, treatment, and familial cancer risk have been described in many pediatric solid tumors. In addition to providing a concise summary of clinically relevant molecular alterations in extracranial pediatric solid tumors, this review discusses conventional and next-generation sequencing-based molecular techniques, relevant tumor predisposition syndromes, and the increasing integration of molecular data into the practice of diagnostic pathology for children with solid tumors.
Insights
This review summarizes key molecular changes in pediatric solid tumors, impacting diagnosis and treatment. It highlights sequencing techniques and their integration into pediatric cancer pathology.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Pediatric tumors encompass hematologic malignancies, central nervous system tumors, and extracranial solid tumors.
- Molecular alterations significantly influence diagnosis, prognosis, treatment, and hereditary cancer risk in pediatric solid tumors.
Purpose of the Study:
- To summarize clinically relevant molecular alterations in extracranial pediatric solid tumors.
- To discuss molecular techniques and their integration into diagnostic pathology for pediatric solid tumors.
Main Methods:
- Review of literature on molecular alterations in extracranial pediatric solid tumors.
- Discussion of conventional and next-generation sequencing techniques.
- Examination of tumor predisposition syndromes.
Main Results:
- Clinically relevant molecular alterations in pediatric solid tumors are identified.
- Conventional and next-generation sequencing methods are detailed.
- The role of molecular data in diagnostic pathology for pediatric solid tumors is explored.
Conclusions:
- Molecular profiling is crucial for understanding and managing pediatric solid tumors.
- Advancements in sequencing technologies enhance diagnostic capabilities.
- Integrating molecular data improves the diagnostic pathology practice for pediatric cancers.
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