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Clinical and biological analysis of familial essential thrombocythemia

Research Project

Project/Area Number 11671008
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Hematology
Research InstitutionNagoya City University

Principal Investigator

WAKITA Atsushi  Nagoya City University Medical School, Assistant Professor, 医学部, 講師 (20264715)

Co-Investigator(Kenkyū-buntansha) KOMATSU Hirokazu  Nagoya City University Medical School, Research Associate, 医学部, 助手 (60336675)
IIDA Shinsuke  Nagoya City University Medical School, Assistant Professor, 医学部, 講師 (50295614)
UEDA Ryuzo  Nagoya City University Medical School, Professor, 医学部, 教授 (20142169)
Project Period (FY) 1999 – 2001
Project Status Completed (Fiscal Year 2001)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2001: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2000: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1999: ¥1,400,000 (Direct Cost: ¥1,400,000)
KeywordsFamilial / Thrombocythemia / thrombopoietin / C-Mpl / 本態性血小板血症 / c-Mp1 / 血栓症 / clonality
Research Abstract

We investigate 42 members out degree in a family with hereditary essential thrombocythemia. Ten members had already died, and the causes of the deaths are 2 of old age, one brain hemorrage and one cerebral infarction. Eighteen members who alive were received blood examination, essential thrombocythemia was diagnosed for 9 patients. In the essential thrombocythemia patients, the age was 7 to 64 years old. The oldest patients had complication brain hemorrage and he died of second hemorragic attack. On deaths, his bone marrow showed myelofibrosis and platelet count was lower than normal. There was no patients with trombotic or hemorragic complications. Other symptoms resulting from platelet increment were, one patient had headache and one had dizziness, they were not serious. Platelet function test showed decreased ADP aggregation and epinephrine aggregation in the patients, they were normal in the healthy members. Platelet adhesion test was almost normal. Oral mucous sample was harvested from 7 female patients, which were examined clonality analysis using polymorphism of HUMARA gene. There was no evidence of clonal shift in the all seven patients. Sereum thrombopoietin level almost normal in the patients, and completely normal in the healthy members. Analysis of c-Mpl mutaion was daone in two patients. Kown mutations were not detected in our patients.

Report

(4 results)
  • 2001 Annual Research Report   Final Research Report Summary
  • 2000 Annual Research Report
  • 1999 Annual Research Report
  • Research Products

    (23 results)

All Other

All Publications (23 results)

  • [Publications] Tsuboi, K.: "MUMI/JIRF4 expression as a frequent event in mature lymphoid malignancies"Mod. Pathol.. 14. 449-456 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Iida S.: "A novel human multiple myeloma-derived cell line. NCU-MM-I, carrying t(2;11)(q11;q23) and t(8;22)(q24;q11) chromosomal translocations with overexpression of c-Myc protein"International Journal of Hematology. 72. 85-91 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Murata M.: "No signficant association between HA-I incompatibility and incidence of acute graft-versus-host disease after HLA-identical sibling bone marrow transplantation in Japanese patients"International Journal of Hematology. 72. 371-375 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Hanamura I.: "Ectopic exression of MAFB gene in human myeloma cells carrying (14;20)(q32;q11) chromosomal translocations"Japanese Journal of Cancer Research. 92. 638-644 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Tsuboi, K.: "Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease : a report of sibling cases"International Journal of Hematology. 73. 356-362 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Tsuboi K.: "MUM1/IRF4 expression as a frequent event in mature lymphoid malignancies"Modern Pathology. 14. 449-456 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Iida S.: "A novel human multiple myeloma-derived cell line, NCU-MM-1, carrying t(2 ; 11)(q11 ; q23) and t(8 ; 22)(q24 ; q11) chromosomal translocations with overexpression of c-Myc protein"International Journal of Hematology. 72. 85-91 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Murata M.: "No significant association between HA-1 incompatibility and incidence of acute graft-versus-host disease after HLA-identical sibling bone marrow transplantation in Japanese patients"International Journal of Hematology. 72. 371-375 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Hanamura I.: "Ectopic expression of MAFB gene in human myeloma cells carrying (14 ; 20)(q32 ; q11) chromosomal translocations"Japanese Journal of Cancer Research. 92. 638-644 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Tsuboi K.: "Improvemen of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease : a report of sibling cases"International Journal of Hematology. 73. 356-362 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Tsubo, K.: "MUM1/IRF4 expression as a frequent event in mature lymphoid malignancies"Mod. Pathol.. 14. 449-456 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] Iida S.: "A novel human multiple mycloma-derived cell line, NCU-MM-1, carrying t(2;11)(q11;q23) and t(8;22)(q24;q11) chromosomal translocations with overexpression of c-Myc protein"International Journal of Hematology. 72. 85-91 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] Murata M.: "No sigficant association between HA-i incompatibility and incidence of acute graft-versus-hodt disease after HLA-identical sibling bone marrow transplantation in Japanese patients"International Journal of Hematology. 72. 371-375 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] Hanamura I.: "Ectopic expression of MAFB gene in human myeloma cells carrying (14;20)(q32;q11) chromosomal anslocation"Japanese Journal of Cancer Research. 92. 638-644 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Tsuboi K.: "Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases"International Journal of Hematology. 73. 356-362 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Tsuboi K: "MUM1/IRF4 expression as a frequent event in mature lymphoid malignancies."Leukemia. 14(3). 449-456 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Iida S: "A nobel human multiple myeloma-derived cell line, NCU-MM-1, carrying (2;11)(p11;q23) and (8;22)(q24;q11) chromosomal translocations with overexpression of c-myc protein."Int J Hematol. 172. 85-97 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Nitta,M.: "Multiple myeloma preceding the development of chronic myelogenous leukemia"Int. J. Hematol. 69. 170-173 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Hayami,Y: "Microsatellite instability as a potential marker for poor prognosis in adult T cell leukemia/lymphoma"Leukemia and lymphoma. 32. 345-349 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Harada,S: "Microsatellite instability is rare in the clinical course of myelodysplastic syndrome studied with DNA form fresh and paraffin-enbedded tissues"J. Cancer Res. Clin. Oncol. 124. 231-235 (1998)

    • Related Report
      1999 Annual Research Report
  • [Publications] Inagaki,H.: "Prognostic significance of CD44v6 in diffuse large B-cell lymphoma"Mod. Pathol.. 12. 546-552 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Yoshida,S.: "Detection of MUM1/IRF4-IgH fusion in multiple myeloma"Leukemia. 13. 1812-1816 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Tsuboi,K.: "MUM1/IRF4 expression as a frequent event in mature lymphoid malignancies"Mod. Pathol.. 14. 449-456 (2000)

    • Related Report
      1999 Annual Research Report

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Published: 1999-04-01   Modified: 2021-08-26  

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