title: Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation.
abstract: We report successful treatment by bone marrow transplantation (BMT) in an acute myeloid leukemia (AML) patient with Glanzmann thrombasthenia (GT). Genetic analysis revealed that a novel point mutation in exon 3 of the GPIIb gene led to abnormal splicing resulting in an amino acid substitution and an in-frame deletion of 3 amino acid residues. Expression studies suggested a rapid degradation of the uncomplexed protein within the cells. Induction therapy for AML was performed with frequent platelet transfusions because of the patient's severe hemorrhagic manifestations. In the second remission, the patient was successfully treated by BMT from an HLA-matched unrelated donor. Platelet function returned to normal, and the GT phenotype completely disappeared. Our experience suggests that BMT is a curative therapeutic strategy for GT. Furthermore, we believe this study is the first to demonstrate that engraftment after BMT for AML can be determined by monitoring the congenital genetic defect of GT.
authors.affiliation: Department of Hematology and Oncology, Division of Clinical Pharmacotherapeutics, Program for Applied Biomedicine, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima Japan. fujimot@hiroshima-u.ac.jp
authors.forename: Tetsuro-Takahiro
authors.initials: TT
authors.lastname: Fujimoto
authors.forename: Miho
authors.initials: M
authors.lastname: Kishimoto
authors.forename: Kazuko
authors.initials: K
authors.lastname: Ide
authors.forename: Miyoko
authors.initials: M
authors.lastname: Mizushima
authors.forename: Masashi
authors.initials: M
authors.lastname: Mita
authors.forename: Nobuo
authors.initials: N
authors.lastname: Sezaki
authors.forename: Kensuke
authors.initials: K
authors.lastname: Kojima
authors.forename: Katsuji
authors.initials: K
authors.lastname: Shinagawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Niiya
authors.forename: Mitsune
authors.initials: M
authors.lastname: Tanimoto
authors.forename: Kingo
authors.initials: K
authors.lastname: Fujimura
mesh_terms: D000208:Acute Disease; D016026:Bone Marrow Transplantation; D006801:Humans; D007951:Leukemia, Myeloid / Q000150:complications* / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D013915:Thrombasthenia / Q000150:complications* / Q000235:genetics / Q000628:therapy*
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