Our faculty is of the opinion that reports providing information about genomic aberrations or exome profiles must include precise information regarding the sequencing technology and the analytic approach as well as information concerning the germline control if examined. The variant allele fraction should also be reported. However, other questions also remain. Should all affected individuals undergo a BM examination? Should management recommendations include avoidance of potential mutagenic events, such as smoking or radiation, in these cases?
These questions remain open and can only be addressed appropriately in forthcoming observational studies. Finally, an important question is whether and how health care systems will be able to pay for the investigations, referrals, follow-up evaluation and management. Although more and more prognostic variables have been identified in the context of MDS and the updated WHO classification [ 9 , 99 ] estimation of the clinical course and survival remains a clinical challenge.
In order to address this challenge, a number of different scoring systems have been developed in the past. Until , the IPSS served as a golden standard of prognostication [ - ]. This new score improves prognostication in individual patients with MDS.
For example, it remains unknown whether the IPSS-R is useful in patients receiving interventional therapy or targeted drugs. In addition, there are other independent risk factors that need to be considered, such as red blood cell transfusion dependence or genetic and somatic aberrations [ 71 - 76 , ].
New Approaches to the Treatment of Myelodysplasia
Especially gene aberration profiles and MFC data may add in the predictive power of prognostic scoring systems. Therefore, molecular genetic and somatic aberrations and MFC-based aberration profiles should be validated and integrated in forthcoming refinements of the IPSS-R.
Table 6: Recurrent immunophenotypic abnormalities detected by flow cytometry in MDS. MDS, myelodysplastic syndromes. The increasing number of diagnostic and prognostic parameters and assays and the advent of new therapeutic approaches in MDS are major challenges in daily practice. Moreover, more and more patients are referred in whom a potential pre-phase of MDS is diagnosed but definitive criteria of MDS are not fulfilled.
Based on these developments, it is important to revisit and refine current diagnostic criteria and standards in MDS and to establish definitions and criteria for pre-MDS conditions. In the current article, we propose such definitions and criteria. In the emerging era of genome-medicine these criteria and the related terminologies may be of crucial importance and should assist in the evaluation of MDS and pre-MDS in daily practice. All co-authors contributed by establishing the concept, by participating in the pre-conference and post-conference discussion-phases, by actively participating in the Working Conference, by formulating consensus statements, by writing parts of the manuscript, and by correcting and approving the final version of the document.
We like to thank Sabine Sonnleitner, Julia Neusiedler-Nicolas, Emir Hadzijusofovic, and all other involved group members research group of Peter Valent for their excellent support in the organization of the Working Conference. The authors declare that they have no conflict of interest in this study and paper. Myelodysplastic syndrome. Annu Rev Med. Nimer SD.
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Pathobiology and Clinical Management, 2nd Edition
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Evolving New Treatment for Myelodysplastic Syndromes
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