JAK2 V617F/C618R mutation in a patient with polycythemia vera:A case study and review of the literature

Jong Ha Yoo, Tae Sung Park, Ho Young Maeng, Young Kyu Sun, Young Ah Kim, Jeong Hae Kie, Eun Hae Cho, Jaewoo Song, Kyung A. Lee, Borum Suh, Jong Rak Choi

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Abstract

The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV). The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies. About 20 kinds of novel mutations of JAK2 other than V617F have been reported recently in the literature. Among these mutations, only one case of JAK2 V617F/C618R has been reported in a 67-year-old patient with PV. Here, we report a rare case of JAK2 V617F/C618R in a 41-year-old Korean male patient with review of the relevant literature on JAK2 mutations other than V617F. Although the frequency of JAK2 mutations other than the V617F is very low, this study emphasizes the need for assiduous analysis of the JAK2 gene to characterize new mutations, to determine their frequency, and to improve understanding of the clinical phenotypes as well as prognostic and biologic features associated with these mutations.

Original languageEnglish
Pages (from-to)43-47
Number of pages5
JournalCancer genetics and cytogenetics
Volume189
Issue number1
DOIs
Publication statusPublished - 2009 Feb 1

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Janus Kinase 2
Polycythemia Vera
Mutation
Essential Thrombocythemia
Myeloproliferative Disorders
Primary Myelofibrosis
Neoplasms
Phenotype

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Yoo, Jong Ha ; Park, Tae Sung ; Maeng, Ho Young ; Sun, Young Kyu ; Kim, Young Ah ; Kie, Jeong Hae ; Cho, Eun Hae ; Song, Jaewoo ; Lee, Kyung A. ; Suh, Borum ; Choi, Jong Rak. / JAK2 V617F/C618R mutation in a patient with polycythemia vera:A case study and review of the literature. In: Cancer genetics and cytogenetics. 2009 ; Vol. 189, No. 1. pp. 43-47.
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abstract = "The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV). The frequency of JAK2 V617F mutation is about 90{\%} in patients with PV, 50-60{\%} in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies. About 20 kinds of novel mutations of JAK2 other than V617F have been reported recently in the literature. Among these mutations, only one case of JAK2 V617F/C618R has been reported in a 67-year-old patient with PV. Here, we report a rare case of JAK2 V617F/C618R in a 41-year-old Korean male patient with review of the relevant literature on JAK2 mutations other than V617F. Although the frequency of JAK2 mutations other than the V617F is very low, this study emphasizes the need for assiduous analysis of the JAK2 gene to characterize new mutations, to determine their frequency, and to improve understanding of the clinical phenotypes as well as prognostic and biologic features associated with these mutations.",
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Yoo, JH, Park, TS, Maeng, HY, Sun, YK, Kim, YA, Kie, JH, Cho, EH, Song, J, Lee, KA, Suh, B & Choi, JR 2009, 'JAK2 V617F/C618R mutation in a patient with polycythemia vera:A case study and review of the literature', Cancer genetics and cytogenetics, vol. 189, no. 1, pp. 43-47. https://doi.org/10.1016/j.cancergencyto.2008.09.010

JAK2 V617F/C618R mutation in a patient with polycythemia vera:A case study and review of the literature. / Yoo, Jong Ha; Park, Tae Sung; Maeng, Ho Young; Sun, Young Kyu; Kim, Young Ah; Kie, Jeong Hae; Cho, Eun Hae; Song, Jaewoo; Lee, Kyung A.; Suh, Borum; Choi, Jong Rak.

In: Cancer genetics and cytogenetics, Vol. 189, No. 1, 01.02.2009, p. 43-47.

Research output: Contribution to journalArticle

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