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Updated: Nov 1, 2025
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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The Interpretation of Sequence Variants in Myeloid Neoplasms
Mehenaz Hanbazazh1, Shuko Harada1, Vishnu Reddy1
1Department of Pathology, Division of Genomic Diagnostics and Bioinformatics, University of Alabama at Birmingham, Birmingham, AL, USA.
American Journal of Clinical Pathology
|June 22, 2021
Summary
Interpreting next-generation sequencing (NGS) variants in myeloid neoplasms is challenging due to technical limitations and data interpretation issues. Accurate variant calling is crucial for effective patient management and treatment decisions.
Area of Science:
- Hematology
- Genomics
- Molecular Diagnostics
Background:
- Next-generation sequencing (NGS) is widely adopted for evaluating myeloid neoplasms.
- Interpreting NGS-detected sequence variants in these cancers presents significant challenges.
Purpose of the Study:
- To review challenges in interpreting NGS variants in myeloid neoplasms.
- To highlight technological limitations to prevent misinterpretation of alterations impacting patient management.
Main Methods:
- Literature review of peer-reviewed studies.
- Focus on interpretation, reporting, and technical challenges of NGS assays for myeloid neoplasms.
Main Results:
- NGS is rapidly integrated into myeloid neoplasm diagnostics.
- Detecting and interpreting myeloid sequence variants is difficult.
- Large insertions, GC-rich regions, and frameshift/truncating variants pose technical and classification challenges.
Conclusions:
- Interpreting NGS results in myeloid neoplasia is complex due to numerous gene alterations.
- Understanding the genomic landscape and interpretation tools is essential for clinical and therapeutic decisions.
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