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Updated: Oct 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 Church1
1Department of Pathology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, 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 alterations in pediatric solid tumors, impacting diagnosis and treatment. It highlights sequencing techniques and the growing role of molecular data in pediatric pathology.
Area of Science:
- Pediatric oncology
- Molecular pathology
- Genomics
Background:
- Pediatric tumors encompass hematologic malignancies, CNS tumors, and extracranial solid tumors.
- Molecular alterations significantly influence diagnosis, prognosis, treatment, and hereditary cancer risk in pediatric solid tumors.
- Understanding these alterations is crucial for advancing pediatric cancer care.
Purpose of the Study:
- To provide a concise summary of clinically relevant molecular alterations in extracranial pediatric solid tumors.
- To discuss conventional and next-generation sequencing techniques for molecular analysis.
- To review tumor predisposition syndromes and the integration of molecular data in pediatric diagnostic pathology.
Main Methods:
- Literature review of published studies on pediatric solid tumors.
- Analysis of molecular alterations, sequencing technologies, and predisposition syndromes.
- Synthesis of information regarding the clinical utility of molecular data in pediatric pathology.
Main Results:
- Clinically relevant molecular alterations in extracranial pediatric solid tumors are identified.
- Conventional and next-generation sequencing methods are detailed, emphasizing their role in molecular profiling.
- The significance of tumor predisposition syndromes and the integration of molecular pathology in diagnosis are discussed.
Conclusions:
- Molecular alterations are integral to understanding and managing pediatric solid tumors.
- Advanced sequencing techniques are transforming molecular diagnostics in pediatric oncology.
- The integration of molecular data is enhancing diagnostic accuracy and personalized treatment strategies for children with solid tumors.
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