Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation

Tetsuro Takahiro Fujimoto, Miho Kishimoto, Kazuko Ide, Miyoko Mizushima, Masashi Mita, Nobuo Sezaki, Kensuke Kojima, Katsuji Shinagawa, Kenji Niiya, Mitsune Tanimoto, Kingo Fujimura

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)77-80
Number of pages4
JournalInternational Journal of Hematology
Volume81
Issue number1
DOIs
Publication statusPublished - Jan 2005

Fingerprint

Thrombasthenia
Bone Marrow Transplantation
Acute Myeloid Leukemia
Unrelated Donors
Platelet Transfusion
Amino Acid Substitution
Point Mutation
Proteolysis
Exons
Therapeutics
Blood Platelets
Phenotype
Amino Acids
Genes

Keywords

  • Acute myeloid leukemia
  • Bone marrow transplantation
  • Engraftment monitor
  • Glanzmann thrombasthenia
  • Platelet function

ASJC Scopus subject areas

  • Hematology

Cite this

Fujimoto, T. T., Kishimoto, M., Ide, K., Mizushima, M., Mita, M., Sezaki, N., ... Fujimura, K. (2005). Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation. International Journal of Hematology, 81(1), 77-80. https://doi.org/10.1532/IJH97.04044

Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation. / Fujimoto, Tetsuro Takahiro; Kishimoto, Miho; Ide, Kazuko; Mizushima, Miyoko; Mita, Masashi; Sezaki, Nobuo; Kojima, Kensuke; Shinagawa, Katsuji; Niiya, Kenji; Tanimoto, Mitsune; Fujimura, Kingo.

In: International Journal of Hematology, Vol. 81, No. 1, 01.2005, p. 77-80.

Research output: Contribution to journalArticle

Fujimoto, TT, Kishimoto, M, Ide, K, Mizushima, M, Mita, M, Sezaki, N, Kojima, K, Shinagawa, K, Niiya, K, Tanimoto, M & Fujimura, K 2005, 'Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation', International Journal of Hematology, vol. 81, no. 1, pp. 77-80. https://doi.org/10.1532/IJH97.04044
Fujimoto, Tetsuro Takahiro ; Kishimoto, Miho ; Ide, Kazuko ; Mizushima, Miyoko ; Mita, Masashi ; Sezaki, Nobuo ; Kojima, Kensuke ; Shinagawa, Katsuji ; Niiya, Kenji ; Tanimoto, Mitsune ; Fujimura, Kingo. / Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation. In: International Journal of Hematology. 2005 ; Vol. 81, No. 1. pp. 77-80.
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