Impact of genetic alterations on prognosis in myelodysplastic syndrome patients undergoing stem cell transplantation

Abstract

Myelodysplastic syndromes (MDS) constitute a group of heterogeneous disorders of hematopoietic stem cells, characterized by defective hematopoiesis and multilineage dysplasia. While low-risk subtypes normally exhibit a relatively chronic clinical course, high-risk subtypes harbor unfavorable prognosis in which hematopoietic stem cell transplantation (HCT) is the only curative therapy. Nevertheless, transplantation-related mortality is relatively high and should be weighed against the potential benefits of HCT. Hence, it is vital to precisely stratify the prognostic risks before HCT for predicting and enhancing their prognosis. Recently, our understanding of the genetic basis of MDS has substantially advanced, through which a full spectrum of major mutational targets was delineated. Moreover, its effects in the setting of HCT have also been assessed besides the conventional predictive factors. While clinical factors account for as much as 70% of the total hazard of MDS cases treated with HCT, the remaining 30% is explicated by genetic factors. The integration of genetic test and conventional clinical factors could be useful for precise stratification of the prognostic risks and, therefore, treatment decision in MDS.