Myelodysplastic syndromes: Mechanisms, diagnosis, and treatment

Myelodysplastic syndromes (MDS) are clonal hematopoietic stem-cell disorders that associate cell dysplasia and ineffective hematopoiesis, leading to blood cytopenias. The last decade has seen the identification of genetic alterations driving these diseases. Allogeneic stem-cell transplantation remains the only treatment that offers curative potential. Lenalidomide treatment results in robust hemoglobin responses in lower-risk patients with isolated del(5q) while erythropoiesis-stimulating agents can transiently improve anemia in lower risk patients without del(5q). Azacitidine and decitabine have disease-modifying activity in higher risk MDS. Ongoing efforts aim at identifying innovative therapeutic approaches that would eradicate the malignant clone and restore a nonmalignant hematopoiesis.