Myelodysplastic syndromes in children. A critical review of the clinical manifestations and management

The FAB group has defined myelodysplasia in adults but direct application o f this categorization to children has been controversial. Consequently, to outline the natural history of the disease better we have retrospectively a nalysed case reports and series published in English between 1982 and 1996. This study also Included children with juvenile chronic myelomonocytic leu kaemia (JCML) and monosomy 7 (Mo7). 340 patients were described in 27 publi cations. The mean presentation age was 5.91 (SD 5.04) years, and 34.9% were female. Constitutional alterations were described In 68 (20%) where refrac tory anemia (RA) and RA with excess of blasts (RAEB) predominated and were associated with a significantly longer survival. Among all patients progres sion to higher forms of MDS was noted in 61 (18%). Cytogenetic anomalies we re detected in 59% of 227 children, and in 67 it was to Mo7. Amid those wit h Mo7, the clinical and laboratory characteristics as well as survival, clo sely followed their FAB type. Of the treatment options described, survival was significantly higher in those who underwent bone marrow transplant (BMT ) (46.9%; P = 0.00021). Among children with JMML (CMML/JCML) not receiving a BMT, time to death was shortest in those best described as JCML (absence of constitutional and karyotypic derangement, thrombocytopenia and elevated Hb F). We conclude that children with constitutional abnormalities survive longer, Mo7 disorders are clinically and morphologically heterogeneous and should not be grouped into a single entity and that CMML and JCML may have biological differences. Finally, BMT remains the treatment of choice for t hose with primary MDS, as intensive chemotherapy is no better than supporti ve measures. Am. J. Hematol. 63:212-222, 2000. (C) 2000 Wiley-Liss, Inc.