How I treat myelodysplastic syndromes of childhood

Franco Locatelli and Brigitte Strahm


Pediatric myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders with an annual incidence of 1-4 cases/million, accounting for less than 5% of childhood hematological malignancies. MDS in children often occur in the context of inherited bone marrow failure syndromes, this representing a peculiarity of myelodysplasia diagnosed in the pediatric age. Moreover, germline syndromes predisposing individuals to develop MDS/acute myeloid leukemia have recently been identified, such as those caused by mutations in GATA2, ETV6, SRP72, and SAMD9/SAMD9-L. Refractory cytopenia of childhood (RCC) is the most frequent pediatric MDS variant, showing specific histopathological features. Allogeneic hematopoietic stem cell transplantation (HSCT) represents the treatment of choice for many children with MDS, being routinely offered to all patients with MDS with excess of blasts, to those with MDS secondary to previously administered chemo-radiotherapy, and to those with RCC associated with either monosomy 7, complex karyotype or severe neutropenia or transfusion dependence. Immune-suppressive therapy may be a treatment option for RCC patients with hypocellular bone marrow and absence of monosomy 7 or complex karyotype, although the response rate is lower than that observed in severe aplastic anemia, and a relevant proportion of these patients will subsequently need HSCT for either non-response or relapse.

  • Submitted September 11, 2017.
  • Accepted January 27, 2018.