Fathy abdel wahab biography of rory

Published in final edited form as: Expert Rev Hematol. 2019 Apr 12;12(4):215–224. doi: 10.1080/17474086.2019.1592673

Abstract

Introduction:

Commonly used scoring systems rely on blood counts, histological and cytological examination of bone marrow and peripheral blood, and cytogenetic assessments to estimate prognosis of patients with myelodysplastic syndromes (MDS) and guide therapy decisions. Next generation sequencing (NGS) has identified recurrent genetic abnormalities in up to 90% of patients with MDS and may provide important information regarding the pathogenesis of the disease, diagnostic and prognostic evaluation, and therapy selection.

Areas covered:

Herein, the authors review the role of NGS in diagnosis, treatment, and prognosis of MDS at various disease stages, and discuss advantages and caveats of incorporating molecular genetics in routine management of MDS. While a vast majority of patients harbor recurrent mutations implicated in MDS pathogenesis, similar mutations can be detected in otherwise healthy individuals with other hematologic malignancies. Besides establishing a diagnosis, NGS may be used to monitor minimal residual disease following treatment.

Expert opinion:

As more targeted therapies be

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