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International Journal of Hematology

, Volume 104, Issue 2, pp 266–267 | Cite as

JAK2, MPL, and CALR mutations in children with essential thrombocythemia

  • Yuko Sekiya
  • Yusuke Okuno
  • Hideki Muramatsu
  • Olfat Ismael
  • Nozomu Kawashima
  • Atsushi Narita
  • Xinan Wang
  • Yinyan Xu
  • Asahito Hama
  • Hiroyuki Fujisaki
  • Toshihiko Imamura
  • Daiichiro Hasegawa
  • Yoshiyuki Kosaka
  • Shosuke Sunami
  • Yoshitoshi Ohtsuka
  • Shouichi Ohga
  • Yoshiyuki Takahashi
  • Seiji Kojima
  • Akira ShimadaEmail author
Letter to the Editor

Essential thrombocythemia (ET) is an intractable clonal stem cell disorder characterized by a marked increase in platelet count [1]. It is extremely rare among children. Somatic mutations in JAK2 and MPL cause ET, and recent comprehensive genomics studies of adult ET have identified CALR, which encodes calreticulin, as a novel causative gene. Subsequent study revealed that genotype defines the clinical characteristics of ET [2]; patients with JAK2 mutations are at higher risk of thrombosis than those with CALR mutations. These findings highlight the clinical importance of molecular diagnosis.

The clinical presentation and genetic determinants of ET may differ between adult and pediatric cases [1]. Pediatric patients with ET have a lower risk of vascular complications and transformation to myelofibrosis than do adult patients. Several groups have reported that frequencies of JAK2 and MPLmutations are lower among children. We hypothesized that these differences might be attributable to...

Keywords

Pediatric Patient Somatic Mutation Essential Thrombocythemia Myelofibrosis Adult Cohort 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Compliance with ethical standards

Conflict of interest

There are no relevant conflicts of interest to disclose.

Supplementary material

12185_2016_2022_MOESM1_ESM.tif (1.6 mb)
Supplementary material 1 (TIFF 1595 kb)
12185_2016_2022_MOESM2_ESM.docx (18 kb)
Supplementary material 2 (DOCX 17 kb)

References

  1. 1.
    Fu R, Zhang L, Yang R. Paediatric essential thrombocythemia: clinical and molecular features, diagnosis and treatment. Br J Haematol. 2013;163(3):295–302.CrossRefPubMedGoogle Scholar
  2. 2.
    Rumi E, Pietra D, Ferretti V, Klampfl T, Harutyunyan AS, Milosevic JD, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014;123(10):1544–51.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Giona F, Teofili L, Capodimonti S, Laurino M, Martini M, Marzella D, et al. CALR mutations in patients with essential thrombocythemia diagnosed in childhood and adolescence. Blood. 2014;123(23):3677–9.CrossRefPubMedGoogle Scholar

Copyright information

© The Japanese Society of Hematology 2016

Authors and Affiliations

  • Yuko Sekiya
    • 1
  • Yusuke Okuno
    • 1
  • Hideki Muramatsu
    • 1
  • Olfat Ismael
    • 1
  • Nozomu Kawashima
    • 1
  • Atsushi Narita
    • 1
  • Xinan Wang
    • 1
  • Yinyan Xu
    • 1
  • Asahito Hama
    • 1
  • Hiroyuki Fujisaki
    • 2
  • Toshihiko Imamura
    • 3
  • Daiichiro Hasegawa
    • 4
  • Yoshiyuki Kosaka
    • 4
  • Shosuke Sunami
    • 5
  • Yoshitoshi Ohtsuka
    • 6
  • Shouichi Ohga
    • 7
  • Yoshiyuki Takahashi
    • 1
  • Seiji Kojima
    • 1
  • Akira Shimada
    • 8
    Email author
  1. 1.Department of PediatricsNagoya University Graduate School of MedicineNagoyaJapan
  2. 2.Department of Pediatric Hematology/OncologyOsaka City General HospitalOsakaJapan
  3. 3.Department of PediatricsKyoto Prefectural University of Medicine, Graduate School of Medical ScienceKyotoJapan
  4. 4.Department of Hematology and OncologyKobe Children’s HospitalKobeJapan
  5. 5.Department of PediatricsJapanese Red Cross Narita HospitalNaritaJapan
  6. 6.Department of PediatricsHyogo College of MedicineNishinomiyaJapan
  7. 7.Department of Perinatal and Pediatric MedicineKyushu UniversityFukuokaJapan
  8. 8.Department of PediatricsOkayama University Graduate School of MedicineOkayamaJapan

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