Individual risk assessment in MDS in the era of genomic medicine |
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| Affiliation: | 1. Haematological Malignancies Diagnostic Service and Department of Haematology, Leeds Teaching Hospitals, St. James’s Institute of Oncology, Beckett Street, Leeds UK;2. Department of Haematology, Leeds Teaching Hospitals, St. James’s Institute of Oncology, Beckett Street, Leeds UK;1. Service des Explorations Fonctionnelles Rénales, Hôpital Européen Georges-Pompidou (AP-HP), Paris, France;2. Département d''Hématologie, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France;3. Assistance Publique des Hôpitaux de Paris (AP-HP), Groupe Hospitalier Henri-Mondor/Albert Chenevier, Service de Néphrologie et Transplantation, Créteil, France;4. Université Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale (INSERM) U955, Institut Mondor de Recherche Biomédicale (IMRB), Equipe 21 Créteil, France;5. Service de Néphrologie, Dialyse et Transplantation, Hôpital de la Conception, Marseille, France;6. Service de Néphrologie, Dialyse et Transplantation, CHU de Toulouse, Toulouse, France;7. Service de Néphrologie et Hémodialyse, CHU de Strasbourg, Strasbourg, France;8. Service de Néphrologie et Hémodialyse, Clinique Edouard Rist, Paris, France;9. Service de Néphrologie et Hémodialyse, CH de Saint-Malo, Saint-Malo, France;10. Service de Dialyse et Aphérèse Thérapeutique, AURA Paris Plaisance, Paris, France;1. Department of Hematology, Huashan Hospital of Fudan University, Shanghai, China;2. Evidence-Based Medicine Center of Fudan University, Shanghai, China;3. Department of Hematology, Changzheng Hospital of The Second Military Medical University, Shanghai, China;1. Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany;2. Medical Clinic and Policlinic 1, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, Germany |
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| Abstract: | Assessment of risk for patients with myelodysplastic syndromes has evolved from pure morphological bone marrow assessment to a series of validated prognostic scoring systems whose ‘risk’ assessment is of death (overall survival) or disease progression (AML transformation). The revised International Prognostic Scoring System (2012) improved the precision for prognosis but did not consider patient-specific factors such as comorbidity and performance status, which have a clear impact on outcome, particularly in lower-risk MDS. The improved understanding of MDS biology predominantly through genomic mutational analysis, flow cytometry and gene expression profiling poses a question regarding incorporation of these parameters into the existing scoring systems. Although some gene mutations have clear prognostic significance (e.g. SF3B1, TP53), there is no definitive and reproducible evidence that this additional knowledge will change management. Although incorporation of some of these novel data into risk assessment may be imminent, the IPSS-R remains the gold standard tool for everyday practice. |
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| Keywords: | Risk assessment Myelodysplastic syndromes Genomic analysis IPSS-R |
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