The International Prognostic Scoring System (IPSS) is used by doctors to evaluate the seriousness of MDS in each patient. It has prognostic value (i.e., predictive with respect to disease outcome) and will help to develop a treatment plan. One of the components of this scoring system is a genetic analysis. This by itself allows 86% of all MDS patients to be classified in one of 3 groups (with either poor, intermediate or good prognosis). However, 14% of MDS patients carry genetic abnormalities that cannot be classified with the current IPSS. In this study, 2,902 patients with either MDS or a specific subtype of acute myeloid leukemia (AML), combined from 4 patient data bases, were analyzed in order to develop a novel genetic scoring system that would include more patients and still would have prognostic value.
As a result of this study, nineteen genetic categories were defined. This included 7 novel categories of single genetic mutations that were previously not part of the IPSS system. Moreover, the category of double genetic abnormalities was subdivided into 3 well-defined sub-categories with specific prognostic value. Together, these 19 categories could be divided into five groups, from very poor to very good prognosis. The system was validated by testing it on unrelated MDS patient databases. Using this novel scoring system, 91% of patients could now be classified, which is an important step forward in developing a better understanding of the relationship between genetic abnormality and outcome and in developing better suited treatment plans.