title: Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome.
abstract: To characterize childhood acute megakaryoblastic leukaemia (AMKL), we reviewed 45 children with AMKL diagnosed between 1986 and 2005 at Nagoya University Hospital and Japanese Red Cross Nagoya First Hospital. Twenty-four patients (53%) had AMKL associated with Down syndrome (DS-AMKL) and 21 (47%) had non-DS-AMKL. The median age of the DS-AMKL patients was 21 months (range, 8-38 months) and that of non-DS-AMKL patients was 15 months (range, 2-185 months). The morphology of blast cells was categorized into three groups according to the stage of megakaryocyte maturation. The blast cells were more immature in DS-AMKL than in non-DS-AMKL in terms of morphology and immunophenotyping. Cytogenetic abnormalities of leukaemic cells were classified into seven categories: normal karyotype including constitutional trisomy 21 in DS-AMKL; numerical abnormalities only; t(1;22)(p13;q13); 3q21q26 abnormalities; t(16;21)(p11;q22); -5/del(5q) and/or -7/del(7q); and other structural changes. The outcome of children with either DS-AMKL or non-DS-AMKL is excellent. The 10-year overall survival estimate was 79% [95% confidence interval (CI): 54-90] for DS-AMKL and 76% (95% CI: 58-91) for non-DS-AMKL (P = 0.81) with a median follow-up of 78 months (range, 20-243 months). Our study shows the diverse heterogeneity of childhood AMKL and the need for subclassification according to cytogenetic and morphological features.
authors.affiliation: Department of Paediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Asahito
authors.initials: A
authors.lastname: Hama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yagasaki
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Nishio
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.forename: Nao
authors.initials: N
authors.lastname: Yoshida
authors.forename: Makito
authors.initials: M
authors.lastname: Tanaka
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Hidaka
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Watanabe
authors.forename: Ayami
authors.initials: A
authors.lastname: Yoshimi
authors.forename: Kimikazu
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Kazuko
authors.initials: K
authors.lastname: Kudo
authors.forename: Koji
authors.initials: K
authors.lastname: Kato
authors.forename: Keizo
authors.initials: K
authors.lastname: Horibe
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007621:Karyotyping; D007947:Leukemia, Megakaryoblastic, Acute / Q000188:drug therapy / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D008297:Male; D009154:Mutation; D011379:Prognosis; D012189:Retrospective Studies; D016019:Survival Analysis
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human