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Molecular Landscape of MDS

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Diagnosis and Management of Myelodysplastic Syndromes

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Abstract

The characterization of “myelodysplastic syndromes (MDS)” remains a complex challenge. The interpretation of respective morphological features is observer dependent and may also be associated with other hematological neoplasms or benign and reactive conditions. Although cytogenetics can provide complementary information of great importance for diagnosis and prognosis, only ~50% of de novo MDS cases carry a cytogenetic aberration. Within the last decade, advances in sequencing technologies have allowed for a comprehensive mapping of the molecular genetic landscape in MDS. These efforts have shown that there is an MDS-associated pattern of frequently mutated genes with key roles in a distinct set of functional classes – and that the great majority of patients (90%) carries at least one mutation. The insight we gain through molecular genetics is therefore crucial in understanding MDS, from pathogenesis and pathobiology, for diagnosis, and to predict course of disease. Implementing this knowledge into the clinical setting is likely to improve classification, prognostication, and therapy.

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  1. MLL Munich Leukemia Laboratory, Munich, Germany

    Torsten Haferlach & Ines Schmidts

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  1. Torsten Haferlach
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  2. Ines Schmidts
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Correspondence to Torsten Haferlach .

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  1. Department of Hematology and Medical Oncology, Cleveland Clinic, Cleveland, OH, USA

    Aziz Nazha

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Haferlach, T., Schmidts, I. (2020). Molecular Landscape of MDS. In: Nazha, A. (eds) Diagnosis and Management of Myelodysplastic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-030-51878-3_5

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