Molecular genetics in clinical decision making
EHA Learning Center. Cazzola M. Jun 15, 2018; 219078
Topic: 2Ag Myelodysplastic syndromes
Disclosure(s): University of Pavia
Prof. Dr. Mario Cazzola
Prof. Dr. Mario Cazzola

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THIS MANUSCRIPT IS PUBLISHED AS AN OFFICIAL SUPPLEMENT OF HEMASPHERE.

Eva Hellström Lindberg - Chair Introduction
This educational session on myelodysplastic syndromes aims to cover recent breakthroughs in the understanding of disease pathogenesis, the role of molecular genetics in prognosis and clinical decision-making, and how novel treatment options are developed to meet the major therapeutic gaps for patients with MDS. Dr. Raaijmakers will review mechanisms of microenvironmental contributions to disease initiation and progression, including their interplay with the malignant MDS clone. Dr. Cazzola will describe the current view of the mutational landscape of MDS and how chromosomal abnormalities and discrete gene rearrangements can be used to characterize and prognosticate more than 90% of patients with MDS. Oncogenic driver mutations include genes involved in RNA splicing, DNA methylation, chromatin modification, transcription regulation, DNA repair, signal transduction, and the cohesin complex. Dr. Platzbecker will review the pipeline of novel drugs and their potential to contribute to patient outcome. The activin receptor fusion protein luspatercept has a substantial potential to target the anemia of patients with lower-risk MDS with ring sideroblasts and presence of splice factor SF3B1 mutations. By contrast, novel therapeutic options for higher-risk MDS are still limited.
In conclusion, the session will explain how current knowledge about the clonal MDS cells and their microenvironment can be used to design and develop novel targeted treatment for specific MDS subgroups.

Learning Objectives of the article
- Disease mechanisms in MDS are complex and involve the interplay between the malignant stem cells and the bone marrow microenvironment.
- Mutation profiling is an essential component in the routine work-up of MDS including risk assessment and prediction of response to therapy.
- Luspatercept is a novel therapeutic option for patients with MDS with ringsideroblasts and anemia.

Learning Objectives of the presentation
After viewing this presentation the participant will be able to:
- Describe how mutation profiling can be used for identifying individuals at high risk of developing a myelodysplastic syndrome or a related myeloid neoplasm.
- Describe myeloid neoplasms with germ line predisposition and their genetic basis.
- Describe the mutant genes currently included in the WHO classification of myelodysplastic syndromes.
- Discuss the use of targeted gene sequencing for improving prognostication and prediction of response to treatment in patients with a myelodysplastic syndrome or a related disorder.
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