title: Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients.
abstract: Myelodysplastic syndromes (MDS) and myeloproliferative syndromes (MPS) of childhood are a heterogeneous group of clonal disorders of hematopoiesis with overlapping clinical features and inconsistent nomenclature. Although a number of genetic conditions have been associated with MDS and MPS, the overall contribution of inherited predispositions is uncertain. We report a retrospective study examining clinical features, genetic associations, and outcomes in 167 children with MDS and MPS. Of these patients, 48 had an associated constitutional disorder. One hundred one patients had adult-type myelodysplastic syndrome (A-MDS), 60 had juvenile myelomonocytic leukemia (JMML), and 6 infants with Down syndrome had a transient myeloproliferative syndrome (TMS). JMML was characterized by young age at onset and prominent hepatosplenomegaly, whereas patients with A-MDS were older and had little or no organomegaly. The most common cytogenetic abnormalities were monosomy 7 or del(7q) (53 cases); this was common both in patients with JMML and those with A-MDS. Leukemic transformation was observed in 32% of patients, usually within 2 years of diagnosis. Survival was 25% at 16 years. Favorable prognostic features at diagnosis included age less than 2 years and a hemoglobin F level of less than 10%. Older patients tended to present with an adult-type MDS that is accommodated within the French-American-British system. In contrast, infants and young children typically developed unique disorders with overlapping features of MDS and MPS. Although the type and intensity of therapy varied markedly in this study, the overall outcome was poor except in patients with TMS.
authors.affiliation: University of California, San Francisco, San Francisco, CA 94143, USA.
authors.forename: S
authors.initials: S
authors.lastname: Luna-Fineman
authors.forename: K M
authors.initials: KM
authors.lastname: Shannon
authors.forename: S K
authors.initials: SK
authors.lastname: Atwater
authors.forename: J
authors.initials: J
authors.lastname: Davis
authors.forename: M
authors.initials: M
authors.lastname: Masterson
authors.forename: J
authors.initials: J
authors.lastname: Ortega
authors.forename: J
authors.initials: J
authors.lastname: Sanders
authors.forename: P
authors.initials: P
authors.lastname: Steinherz
authors.forename: V
authors.initials: V
authors.lastname: Weinberg
authors.forename: B J
authors.initials: BJ
authors.lastname: Lange
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007938:Leukemia / Q000209:etiology; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011379:Prognosis; D012189:Retrospective Studies; D015996:Survival Rate
chemical_list: D005319:Fetal Hemoglobin