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Myelodysplastic Syndrome (MDS) and Juvenile Myelomonocytic Leukemia (JMML)

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Hematological Disorders in Children

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Abstract

Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic stem cell disorders and is uncommon in children comparing to adults. According to the proportion of blasts in the bone marrow (BM) and peripheral blood, it is divided into low-grade MDS and advanced MDS. Low-grade MDS often shows hypocellular BM, which makes differentiation from aplastic anemia and inherited bone marrow failure syndrome challenging. Treatment strategy for low-grade MDS should be determined based on the severity of cytopenias, karyotypes, and donor availability. In advanced MDS, two-thirds have chromosomal aberrations such as monosomy 7, and acute myeloid leukemia (AML) is the major differential diagnosis. Allogeneic hematopoietic cell transplantation (HCT) is the mainstay of treatment for children with advanced MDS; however, relapse and transplant-related mortality are obstacle to cure.

Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloid neoplasm of early childhood characterized by excessive proliferation of monocytic and granulocytic cells. The hypersensitivity of myeloid progenitor cells to GM-CSF is regarded as a hallmark of JMML and is caused by mutations in genes regulating the RAS signaling pathway (i.e., NRAS, KRAS, NF1, PTPN11, and CBL). Although allogeneic HCT is the treatment of choice for most patients with JMML, a subset of patients harboring mutations in CBL or RAS can be managed without HCT.

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  1. Department of Pediatrics, St. Luke’s International Hospital, 9-1, Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan

    Daisuke Hasegawa & Atsushi Manabe

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  1. Daisuke Hasegawa
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  2. Atsushi Manabe
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Correspondence to Atsushi Manabe .

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  1. Department of Pediatrics, Ehime University Graduate School of Medicine, Toon, Ehime, Japan

    Eiichi Ishii

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Hasegawa, D., Manabe, A. (2017). Myelodysplastic Syndrome (MDS) and Juvenile Myelomonocytic Leukemia (JMML). In: Ishii, E. (eds) Hematological Disorders in Children. Springer, Singapore. https://doi.org/10.1007/978-981-10-3886-0_4

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  • DOI: https://doi.org/10.1007/978-981-10-3886-0_4

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