title: Immunophenotype of a transient myeloproliferative disorder in a newborn with trisomy 21.
abstract: Cytologic, immunologic, and cytogenetic studies were performed on the blast cells of a newborn with Down syndrome and transient myeloproliferative disease. This hematologic disorder is uncommon, and occurs primarily in infants with Down syndrome. This boy presented with a high white blood cell count and a high percentage of blast cells, without anemia or thrombocytopenia. Chromosome analysis showed a constitutional trisomy 21 without any other clonal abnormality. A three-color flow cytometric analysis was performed and revealed two different CD45 dim, CD34(+), CD117(+), CD56(+) immature subpopulations: the normal immature myeloid precursor and an immature blast cell population that expressed CD41, CD42, CD61, CD36, CD13, CD1a, and CD2. We postulate that this population could be the leukemic precursor involved in the acute megakaryoblastic leukemia frequently observed in children with Down syndrome.
authors.affiliation: Hematology Laboratory, University Hospital, Dijon, France.
authors.forename: F
authors.initials: F
authors.lastname: Girodon
authors.forename: B
authors.initials: B
authors.lastname: Favre
authors.forename: G
authors.initials: G
authors.lastname: Couillaud
authors.forename: P M
authors.initials: PM
authors.lastname: Carli
authors.forename: C
authors.initials: C
authors.lastname: Parmeland
authors.forename: M
authors.initials: M
authors.lastname: Maynadié
mesh_terms: D004314:Down Syndrome / Q000150:complications / Q000276:immunology*; D005434:Flow Cytometry; D006412:Hematopoietic Stem Cells; D006801:Humans; D016130:Immunophenotyping; D007231:Infant, Newborn; D007938:Leukemia / Q000175:diagnosis / Q000276:immunology*; D007958:Leukocyte Count; D008297:Male; D008533:Megakaryocytes; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000276:immunology*