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Review
. 2016 Dec 2;2016(1):598-604.
doi: 10.1182/asheducation-2016.1.598.

Myelodysplastic and myeloproliferative disorders of childhood

Henrik Hasle  1
Affiliations
Review

Myelodysplastic and myeloproliferative disorders of childhood

Henrik Hasle. Hematology Am Soc Hematol Educ Program. .

Abstract

Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions. RCC is often hypoplastic and may respond to immunosuppressive therapy. In case of immunosuppressive therapy failure, hypercellular RCC, or RCC with monosomy 7, hematopoietic stem cell transplantation (HSCT) using reduced-intensity conditioning regimens is indicated. Almost all patients with refractory anemia with excess blasts are candidates for HSCT; children age 12 years or older have a higher risk of treatment-related death, and the conditioning regimens should be adjusted accordingly. Unraveling the genetics of JMML has demonstrated that JMML in patients with germ line PTPN11 and CBL mutations often regresses spontaneously, and therapy is seldom indicated. Conversely, patients with JMML and neurofibromatosis type 1, somatic PTPN11, KRAS, and most of those with NRAS mutations have a rapidly progressive disease, and early HSCT is indicated. The risk of relapse after HSCT is high, and prophylaxis for graft-versus-host disease and monitoring should be adapted to this risk.

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Conflict of interest statement

Conflict-of-interest disclosures: The author declares no competing financial interests.

Figures

Figure 1.
Figure 1.
Blast count and relative distribution of AML and MDS illustrates that AML can be diagnosed at any blast level. Adapted from Hasle and Niemeyer.
Figure 2.
Figure 2.
Probability of 5-year overall survival in advanced MDS according to subgroup. Adapted from Strahm et al.
Figure 3.
Figure 3.
Aberrations in the Ras signaling pathway that lead to excessive proliferation.
See this image and copyright information in PMC

References

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MeSH terms

Supplementary concepts