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Annals of Hematology

, Volume 97, Issue 4, pp 737–739 | Cite as

Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation

  • Koichiro Maie
  • Yasuhisa Yokoyama
  • Yoko Yano
  • Takayasu Kato
  • Yasuhito Nannya
  • Seishi Ogawa
  • Masayuki Noguchi
  • Mamiko Sakata-Yanagimoto
  • Shigeru ChibaEmail author
Letter to the Editor
  • 200 Downloads

Dear Editor,

Familial thrombocytosis (FT) is a rare, inherited form of myeloproliferative neoplasms (MPN). Germline mutations have been identified mostly in THPO [1] and MPL [2] genes, while only six JAK2 germline mutations in five families have been reported [3, 4, 5, 6]. In a previous report, all the members of a family affected with the JAK2 R867Q mutation showed thrombocytosis alone with normal hemoglobin levels [6]. Here we report a Japanese FT pedigree with the germline JAK2 R867Q mutation, in whom progression to polycythemia vera (PV) was observed.

A 31-year-old woman (patient 5) with a 25-year history of thrombocytosis was referred to our hospital (Fig.  1a). Her hemoglobin level was normal. Her father (patient 3) also showed mild thrombocytosis but had high-hemoglobin levels with normal to low erythropoietin levels. His platelets had been persistently high, and his hemoglobin levels fluctuated around 16.5 g/dl until he was 56. However, since the age of 59, his hemoglobin...

Notes

Acknowledgements

We thank Thomas Mayers, assistant professor of English for Medical Purposes, Medical English Communications Center, University of Tsukuba, for his editorial assistance.

Author contributions

KM and YY wrote the manuscript. KM performed the experiments using patient samples. YN and SO performed panel sequencing for 67 genes. YY and MN performed histopathological analysis. YY, TK, MSY, and SC supervised this research. All authors approved the final manuscript.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

This study was approved by ethics committee in University of Tsukuba Hospital, and informed consent was obtained from the patient and her family members before the analysis.

References

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Koichiro Maie
    • 1
    • 2
  • Yasuhisa Yokoyama
    • 1
    • 2
  • Yoko Yano
    • 3
  • Takayasu Kato
    • 1
    • 2
  • Yasuhito Nannya
    • 4
  • Seishi Ogawa
    • 4
  • Masayuki Noguchi
    • 3
  • Mamiko Sakata-Yanagimoto
    • 1
    • 2
  • Shigeru Chiba
    • 1
    • 2
    Email author
  1. 1.Department of Hematology, Graduate School of Comprehensive Human SciencesUniversity of TsukubaTsukubaJapan
  2. 2.Department of Hematology, Faculty of MedicineUniversity of TsukubaTsukubaJapan
  3. 3.Department of Pathology, Graduate School of Comprehensive Human SciencesUniversity of TsukubaTsukubaJapan
  4. 4.Department of Pathology and Tumor BiologyKyoto UniversityKyotoJapan

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