Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders

C. H. Lieu, H. S. Wu, Y. C. Hon, W. H. Tsai, C. F. Yang, C. C. Wang, Y. C. Lin, C. H. Shih, H. C. Hsu

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Abstract

Background: The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in these disorders. However, its frequency has been rarely determined in Taiwanese patients. Methods: The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay. Results: The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases. The presence of the JAK2 mutation was associated with specific MPD disease subtypes (P = 0.007), longer disease duration (P = 0.005), splenomegaly (P = 0.019), a higher white blood cell count (P = 0.002) and a higher haemoglobin level (P = 0.036). However, the overall risk of thrombosis or bleeding was not affected by the presence of the JAK2 mutation (32 vs 17%; P = 0.22). Conclusion: The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD.

Original languageEnglish
Pages (from-to)422-426
Number of pages5
JournalInternal Medicine Journal
Volume38
Issue number6 A
DOIs
Publication statusPublished - Jun 2008

Fingerprint

Myeloproliferative Disorders
Mutation
Essential Thrombocythemia
Polycythemia Vera
Primary Myelofibrosis
Janus Kinase 2
Hematologic Diseases
Myelodysplastic Syndromes
Splenomegaly
Enzyme Assays
Leukocyte Count
Intercellular Signaling Peptides and Proteins
Hypersensitivity
Thrombosis
Leukocytes
Hemorrhage

Keywords

  • Essential thrombocythaemia
  • Idiopathic myelofibrosis
  • Janus kinase-2 mutation
  • Myeloproliferative disorder
  • Polycythaemia vera

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Lieu, C. H., Wu, H. S., Hon, Y. C., Tsai, W. H., Yang, C. F., Wang, C. C., ... Hsu, H. C. (2008). Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders. Internal Medicine Journal, 38(6 A), 422-426. https://doi.org/10.1111/j.1445-5994.2007.01589.x

Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders. / Lieu, C. H.; Wu, H. S.; Hon, Y. C.; Tsai, W. H.; Yang, C. F.; Wang, C. C.; Lin, Y. C.; Shih, C. H.; Hsu, H. C.

In: Internal Medicine Journal, Vol. 38, No. 6 A, 06.2008, p. 422-426.

Research output: Contribution to journalArticle

Lieu, C. H. ; Wu, H. S. ; Hon, Y. C. ; Tsai, W. H. ; Yang, C. F. ; Wang, C. C. ; Lin, Y. C. ; Shih, C. H. ; Hsu, H. C. / Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders. In: Internal Medicine Journal. 2008 ; Vol. 38, No. 6 A. pp. 422-426.
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abstract = "Background: The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in these disorders. However, its frequency has been rarely determined in Taiwanese patients. Methods: The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay. Results: The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85{\%}), 29 of 49 essential thrombocythaemia patients (59{\%}) and 2 of 6 IMF patients (33{\%}), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases. The presence of the JAK2 mutation was associated with specific MPD disease subtypes (P = 0.007), longer disease duration (P = 0.005), splenomegaly (P = 0.019), a higher white blood cell count (P = 0.002) and a higher haemoglobin level (P = 0.036). However, the overall risk of thrombosis or bleeding was not affected by the presence of the JAK2 mutation (32 vs 17{\%}; P = 0.22). Conclusion: The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD.",
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AU - Lieu, C. H.

AU - Wu, H. S.

AU - Hon, Y. C.

AU - Tsai, W. H.

AU - Yang, C. F.

AU - Wang, C. C.

AU - Lin, Y. C.

AU - Shih, C. H.

AU - Hsu, H. C.

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AB - Background: The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in these disorders. However, its frequency has been rarely determined in Taiwanese patients. Methods: The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay. Results: The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases. The presence of the JAK2 mutation was associated with specific MPD disease subtypes (P = 0.007), longer disease duration (P = 0.005), splenomegaly (P = 0.019), a higher white blood cell count (P = 0.002) and a higher haemoglobin level (P = 0.036). However, the overall risk of thrombosis or bleeding was not affected by the presence of the JAK2 mutation (32 vs 17%; P = 0.22). Conclusion: The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD.

KW - Essential thrombocythaemia

KW - Idiopathic myelofibrosis

KW - Janus kinase-2 mutation

KW - Myeloproliferative disorder

KW - Polycythaemia vera

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