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Updated: Mar 27, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms
Rashmi Kanagal-Shamanna1, Rajesh R Singh1, Mark J Routbort1
1a Department of Hematopathology , The University of Texas at M.D. Anderson Cancer Center , Houston , TX , USA.
Abstract:
Targeted therapy based on mutational profiles is the current standard of practice for the management of patients with hematologic malignancies. Next-generation sequencing (NGS)- based analysis has been adopted by clinical laboratories for high-throughput mutational profiling of myeloid and lymphoid neoplasms. The technology is fairly novel and complex, hence both validation and test implementation in a CLIA-certified laboratory differ substantially from traditional sequencing platforms. Recently, organizations such as the American College of Medical Genetics, Centers for Disease Control and Prevention and College of American Pathologists have published principles and guidelines for NGS test development to ensure standardization of testing across institutions. Summarized here are the recommendations from these organizations as they pertain to targeted NGS-based testing of hematologic malignancies ('liquid tumors'), with particular emphasis on myeloid neoplasms.
Insights
Next-generation sequencing (NGS) is crucial for analyzing mutations in hematologic cancers. This summary outlines guidelines for implementing NGS tests in clinical labs, focusing on myeloid neoplasms.
Area of Science:
- Hematology
- Genomics
- Clinical Diagnostics
Background:
- Targeted therapy for hematologic malignancies relies on mutational profiling.
- Next-generation sequencing (NGS) enables high-throughput analysis of these profiles.
- Implementing NGS in CLIA-certified labs requires specific validation due to its complexity.
Purpose of the Study:
- To summarize recommendations for NGS test development in hematologic malignancies.
- To emphasize guidelines relevant to myeloid neoplasms.
- To promote standardization of NGS testing across institutions.
Main Methods:
- Review of guidelines from major medical and pathology organizations (ACMG, CDC, CAP).
- Focus on principles for targeted NGS test development.
- Application of these principles to hematologic malignancies, particularly myeloid neoplasms.
Main Results:
- Established organizations provide principles for NGS test development.
- Standardization is key for reliable NGS-based diagnostics.
- Specific considerations exist for targeted NGS in myeloid neoplasms.
Conclusions:
- Adherence to published guidelines ensures robust NGS test implementation.
- Standardized NGS testing improves the management of hematologic malignancies.
- Targeted NGS is a vital tool for precision medicine in hematologic cancers.
