title: Characterization of the blast cell population in two neonates with Down's syndrome and transient myeloproliferative disorder.
abstract: The phenotype and in vitro growth properties of blood and marrow blast cells detected in two neonates with Down's syndrome and a transient leukaemic picture are presented. In both patients, blast cells at diagnosis were heterogeneous and expressed predominantly megakaryocyte and erythroid markers identified by membrane fluorescence using monoclonal antibodies or ultrastructural detection of platelet peroxidase and ferritin. An additional trisomy involving chromosome 22 was detected in blast cells from one patient. Blood and marrow cells colony-assays performed at diagnosis revealed precursors with an abnormal differentiation capacity similar to those found in acute myelogenous leukaemia colony assays. However, an unusual feature was the persistence of high numbers of precursor cells (namely erythroid) following a normal differentiation pathway. Phenotypically and cytogenetically abnormal cells spontaneously disappeared by week 4-6, but overt relapse occurred in one patient 20 months later. These results bring strong arguments in favour of the neoplastic nature of the transient leukaemic picture observed in some neonates with Down's syndrome. Furthermore, we suggest that this disorder can be individualized as a separate entity with specific phenotypic and biological properties.
mesh_terms: D001853:Bone Marrow / Q000503:physiopathology / Q000648:ultrastructure*; D003114:Colony-Forming Units Assay; D004314:Down Syndrome / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009196:Myeloproliferative Disorders / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D010641:Phenotype