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Blood Cancer J. 2018 Nov 12;8(11):113. doi: 10.1038/s41408-018-0148-6.

Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use.

Author information

1
Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. veraulrike.bacher@insel.ch.
2
Center for Laboratory Medicine (ZLM)/University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. veraulrike.bacher@insel.ch.
3
Department of Hematology and Medical Oncology, University Medicine Göttingen (UMG), Göttingen, Germany.
4
Department of Hematology and Oncology, Medical Faculty Mannheim of the Heidelberg University, Mannheim, Germany.
5
Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
6
Center for Laboratory Medicine (ZLM)/University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
7
Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
8
Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. thomas.pabst@insel.ch.

Abstract

Given the vast phenotypic and genetic heterogeneity of acute and chronic myeloid malignancies, hematologists have eagerly awaited the introduction of next-generation sequencing (NGS) into the routine diagnostic armamentarium to enable a more differentiated disease classification, risk stratification, and improved therapeutic decisions. At present, an increasing number of hematologic laboratories are in the process of integrating NGS procedures into the diagnostic algorithms of patients with acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPNs). Inevitably accompanying such developments, physicians and molecular biologists are facing unexpected challenges regarding the interpretation and implementation of molecular genetic results derived from NGS in myeloid malignancies. This article summarizes typical challenges that may arise in the context of NGS-based analyses at diagnosis and during follow-up of myeloid malignancies.

PMID:
30420667
PMCID:
PMC6232163
DOI:
10.1038/s41408-018-0148-6
[Indexed for MEDLINE]
Free PMC Article

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