Challenges in the Introduction of Next-generation Sequencing (NGS) for Diagnostics of Myeloid Malignancies into Clinical Routine Use

Overview

Journal Blood Cancer J

Date 2018 Nov 14

PMID 30420667

Citations 52

Authors

Ulrike Bacher

Evgenii Shumilov

Johanna Flach

Naomi Porret

Raphael Joncourt

Gertrud Wiedemann

Martin Fiedler

Urban Novak

Ursula Amstutz

Thomas Pabst

Affiliations

Soon will be listed here.

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.

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