The Value of Next-Generation Sequencing in the Screening and Evaluation of Hematologic Neoplasms in Clinical Practice. Issue 5 (26th December 2019)

• Record Type: Journal Article
• Authors: Northrup, Victoria; Maybank, Allison; Carson, Nancy; Rahmeh, Tarek
• Is Part Of: American journal of clinical pathology. Volume 153:Issue 5(2020)
• Page Start: 639
• Page End: 645
• Publication Date: 2019-12-26
• Subjects: Hematology -- Next-generation sequencing -- Myeloid neoplasm -- Acute myeloid leukemia -- Molecular diagnostics; Diagnosis, Laboratory -- Periodicals; Pathology -- Periodicals; 616.07
• DOI: 10.1093/ajcp/aqz203
• Languages: English
• ISSNs: 0002-9173

Abstract

Abstract: 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.