The Value of Next-Generation Sequencing in the Screening and Evaluation of Hematologic Neoplasms in Clinical Practice
| Autor: | Maybank A, Northrup, Carson N, Rahmeh T |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Myeloid Hematologic Neoplasms DNA sequencing Myeloid Neoplasm 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Retrospective Studies Myeloproliferative Disorders Hematology business.industry High-Throughput Nucleotide Sequencing General Medicine Molecular diagnostics Clinical Practice 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Bone marrow business |
| Zdroj: | American Journal of Clinical Pathology. 153:639-645 |
| ISSN: | 1943-7722 0002-9173 |
| DOI: | 10.1093/ajcp/aqz203 |
| Popis: | Objectives The implementation of next-generation sequencing (NGS) in routine clinical hematology practice remains limited. We evaluate the clinical value of NGS in the screening, diagnosis, and follow-up in hematologic neoplasms. Methods A targeted NGS panel was used to assess a total of 178 patients for questionable or previously diagnosed myeloid neoplasms. Results Gene variants were identified in 53% of patients. Novel variants were identified in 29% of patients and variants of unknown significance in 34%. Bone marrow samples yielded a higher number of variants than in peripheral blood. NGS is a more sensitive test than conventional cytogenetics. In several cases, NGS played a key role in the screening, diagnostics, prognostic stratification, and the clinical follow-up of a wide variety of myeloid neoplasms. Conclusions NGS is an effective tool in the evaluation of suspected and confirmed hematologic neoplasms and could become part of the routine workup of patients. |
| Databáze: | OpenAIRE |
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