Pediatric Myelodysplasia Treatment & Management

Updated: May 17, 2023
  • Author: Natalia Dixon, MD; Chief Editor: Jennifer Reikes Willert, MD  more...
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Medical Care

Once the diagnosis is established, management involves supportive care that includes transfusion, treatment of infections, and a search for an allogeneic stem cell donor. MDS is an incurable disease without hematopoietic stem cell transplantation (HSCT). [5] Allogeneic HSCT regimens are associated with a 30-50% event-free survival rate at 3 years. In a study of pediatric patients with myelodysplasia syndrome associated with germline mutation in the GATA2 gene (involved in hematopoiesis), Bortnick et al found that following HSCT, the probability of overall and disease-free survival at 5 years was 75% and 70%, respectively. [37]

A study by Sharma et al found that in pediatric patients with acute leukemia or myelodysplasia syndrome, who relapsed after an initial treatment with allogeneic hematopoietic cell transplantation (alloHCT), improved survival occurred in those who then underwent a second alloHCT or were treated with donor lymphocyte infusion, as well as in patients in whom a longer period of time passed between alloHCT and relapse. Survival was also improved in patients who underwent more recent transplantation, with the study involving cases from 1990 to 2018. [38]

Stem cell transplant timing is determined on a case-by-case basis because the temporal course of the disease is highly variable. The optimal conditioning regimen has not been determined. [6]

A study by Merli et al indicated that in pediatric patients with myelodysplasia syndrome who do not have a human leukocyte antigen (HLA)–matched donor, safe and effective management can be provided using an αβT-cell receptor– and CD19 B-cell–depleted HLA-haploidentical HSCT (TBdepl-haploHSCT). In patients who underwent this procedure, platelet and neutrophil recovery took a median of 11 and 15 days, respectively. The cumulative incidence of graft failure was about 14%, with a second TBdepl-haploHSCT used to rescue these patients. Grade I-IV and grade II-IV acute graft-versus-host disease (aGvHD) had cumulative incidences of 21.0% and 8.3%, respectively (in addition to a patient who developed aGvHD after a second TBdepl-haploHSCT). The cumulative incidence of chronic GvHD in patients at risk was almost 10%, with low-dose steroids and ruxolitinib resulting in complete resolution. The cumulative incidence of infectious complications was just over 50%, and the cumulative incidence of transplant-related mortality was about 4%. The patient group had a 5-year probability of overall survival of 88.6%, and of event-free survival, 76.2%. [39]

All patients, their parents, and siblings should have HLA typing. When an HLA-matched family donor is available, HSCT is the therapy of choice. In the absence of an HLA-matched family donor, transplant using a matched unrelated donor, cord blood, or a haploidentical parent should be considered.

Pediatric patients with no unfavorable cytogenetic features, mild cytopenias that do not cause symptoms, and few bone marrow blasts may enjoy a prolonged period without progressive disease; however, spontaneous resolution of MDS is rare, and most patients eventually progress. The optimal timing for transplant in such patients is controversial because the risk of MDS progression must be balanced against the risks of transplant-related mortality and morbidity. Patients with unfavorable features should undergo stem cell transplantation as soon as feasible, because the prognosis is significantly worse after progression to AML.

In the absence of transfusion requirements, severe cytopenias, or infections, an expectant approach with careful observation may be reasonable.

A consensus has not been reached regarding the approach to accelerating disease in the absence of a stem cell donor source. Intensive chemotherapy regimens are usually not successful and, at best, induce short-lived remissions. Furthermore, some studies suggest that patients who receive chemotherapy prior to myeloablative stem cell transplant fare worse than patients who proceed directly to transplant.

The use of hematopoietic growth factors has also been controversial. GM-CSFs have been avoided because of concerns that they may stimulate growth of the malignant clone. The use of erythropoietin has been shown to be helpful in patients who have symptomatic anemia and low erythropoietin levels. Responses in thrombopoiesis to interleukin-11 (Neumega) have been transient and modest in patients with myelodysplasia syndrome.

The role of azacitidine, decitabine, lenalidomide, and other new agents used in adults with myelodysplasia syndrome remains to be determined in children. Whether these agents can impact the quality of life while preparing for stem cell transplantation or can impact the probability of cure after transplantation is unknown.


Surgical Care

As cytopenia(s) progress, most children need central venous access for transfusions. This usually requires surgical placement of a double-lumen catheter. At least 2 lumens are necessary because most children proceed to stem cell transplantation, in which intensity of treatment and blood product support necessitate multilumen vascular access.

Splenectomy is restricted to patients with severe hypersplenism and disease that is unresponsive to other treatment modalities.



Once the diagnosis of myelodysplasia syndrome is considered, follow-up by a pediatric hematologist-oncologist is necessary.

Blood product and infectious disease support need to be managed aggressively at a tertiary care center where specialized blood banking procedures are available.

All pediatric patients should be evaluated at an institution with expertise in pediatric stem cell transplantation.

Children with monosomy 7 cytogenetics should have family members evaluated for familial monosomy 7 in consultation with a clinical geneticist.



Dietary restrictions pertain to periods of neutropenia and are similar to those used for immunocompromised patients with cancer. These include thoroughly cooking all meats and fish. No clinical trials have demonstrated the benefit of these dietary modifications to prevent infection.



Activity restrictions are based on the degree of thrombocytopenia and neutropenia. In general, children should remain as active as possible for both physical and psychological reasons. Strict hand washing and good general hygiene are important precautions. Patients with a Hickman line or port must avoid contact sports in which a direct impact to the line could cause it to break.

Thrombocytopenia precautions include avoiding contact sports and strict use of bike helmets and knee and elbow pads for any activity in which falling is a risk.

Neutropenia precautions include the avoidance of crowds and of anyone with symptoms of transmissible infection.