title: [Relapsed acute myeloid leukemia with Down syndrome showing long disease-free survival after bone marrow transplantation].
abstract: We report a sixteen-year-old boy with Down syndrome and relapse of AML (M7), who has been in complete remission (CR) more than 12 months after bone marrow transplantation (BMT) from an HLA-matched sibling donor. Because monosomy 7 was detected at onset of AML and he experienced relapse after the treatment of AML 99 Down protocol, his prognosis was considered very poor. However, he achieved CR following chemotherapy that included high-dose AraC and BMT from an HLA-matched sibling donor without severe complication. He has remained in CR for more than 12 months after BMT. In this case, GATA1 mutation was not detected at either onset or relapse of AML and it is suggested that this case is in a different risk group than the usual Down syndrome patient with AML showing GATA1 mutation.
authors.affiliation: Department of Pediatrics, Kyoto University Graduate School of Medicine, Japan.
authors.forename: Tomoo
authors.initials: T
authors.lastname: Daifu
authors.forename: Itaru
authors.initials: I
authors.lastname: Kato
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matubara
authors.forename: Daisuke
authors.initials: D
authors.lastname: Abe
authors.forename: Kumiko
authors.initials: K
authors.lastname: Uryu
authors.forename: Mayu
authors.initials: M
authors.lastname: Tokumasu
authors.forename: Katsutsugu
authors.initials: K
authors.lastname: Umeda
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Kazusi
authors.initials: K
authors.lastname: Izawa
authors.forename: Kouichi
authors.initials: K
authors.lastname: Asai
authors.forename: Tatsutoshi
authors.initials: T
authors.lastname: Nakahata
authors.forename: Souichi
authors.initials: S
authors.lastname: Adachi
mesh_terms: D000293:Adolescent; D000964:Antimetabolites, Antineoplastic / Q000008:administration & dosage; D016026:Bone Marrow Transplantation; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003561:Cytarabine / Q000008:administration & dosage; D018572:Disease-Free Survival; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D050982:GATA1 Transcription Factor / Q000235:genetics; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000150:complications* / Q000235:genetics / Q000628:therapy*; D008297:Male; D009006:Monosomy / Q000235:genetics; D009154:Mutation; D012008:Recurrence; D012074:Remission Induction; D012306:Risk; D013997:Time Factors
chemical_list: D000964:Antimetabolites, Antineoplastic; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D003561:Cytarabine