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Comprehensive Genomic Profiling in Non-Myeloid Hematologic Malignancies Identifies Variants That Can Alter Clinical
Chenyu Lin1, Katherine I Zhou2, Michelle F Green3
1Division of Hematologic Malignancies & Cellular Therapy, Department of Medicine, Duke University School of Medicine, Durham, NC 27705, USA.
Hematology Reports
|October 25, 2024
Summary
Comprehensive genomic profiling (CGP) identified clinically significant mutations in 72% of non-myeloid hematologic cancers. This genetic testing altered patient management in 22% of cases, guiding treatment decisions.
Area of Science:
- Oncology
- Genetics
- Hematology
Background:
- Comprehensive genomic profiling (CGP) is standard for myeloid neoplasms and solid tumors.
- Its clinical utility in lymphoid and histiocytic cancers remains less defined.
Purpose of the Study:
- To assess the frequency of management alterations driven by CGP-identified mutations in non-myeloid hematologic malignancies.
Main Methods:
- Retrospective analysis of 105 samples from 101 patients with non-myeloid hematologic malignancies.
- CGP testing performed between 2014 and 2021 at an academic medical center.
Main Results:
- CGP detected at least one pathogenic variant in 88% of samples.
- 72% of patients had mutations with diagnostic, prognostic, or therapeutic significance.
- Management changes occurred in 22% of patients, with resistance variants impacting treatment in 69% of identified cases, while therapy-sensitizing variants led to biomarker-directed therapy consideration in only 10%.
Conclusions:
- CGP identifies clinically significant variants in most non-myeloid hematologic malignancies.
- CGP testing leads to a change in management for a notable proportion of patients, highlighting its clinical relevance.

