Juvenile myelomonocytic leukemia (JMML) is a rare myeloproliferative disorder of early childhood; it is characterized by hepatosplenomegaly and organ infiltration due to excessive proliferation of cells of the monocytic and granulocytic lineages. Approximately 85% of JMML patients harbor in their leukemia cells either somatic or germline mutations in the genes PTPN-11, NRAS, KRAS, NF1, or CBL. Allogeneic hematopoietic stem cell transplantation (HSCT) remains the therapy of choice for the majority of affected children. Available data indicate that transplantation from an HLA-identical sibling or a matched unrelated volunteer can cure more than 50% of patients. A similar proportion of children with JMML, especially when transplanted from donors with limited HLA disparity, can be cured with umbilical cord blood transplantation, which can represent a suitable option for children with JMML lacking either a related or an unrelated HSCT donor.
Niemeyer, C. M., Locatelli, F., Hematopoietic Cell Transplantation for Juvenile Myelomonocytic Leukemia, in Stephen J. Forma, S. J. F., Robert S. Negri, R. S. N., Joseph H. Anti, J. H. A., Frederick R. Appelbau, F. R. A. (ed.), Thomas' Hematopoietic Cell Transplantation: Fifth Edition, Wiley Blackwell, New Jersey 2016: 1-2 554- 565. 10.1002/9781118416426.ch49 [https://hdl.handle.net/10807/250562]