JAK2, MPL,and CALR mutations in Chinese Han patients with essential thrombocythemia |
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Authors: | Jing Wang Biao Zhang Bing Chen Rong-Fu Zhou Qi-Guo Zhang Juan Li |
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Affiliation: | 1. Department of Hematology, The Affiliated DrumTower Hospital of Nanjing University Medical School, Nanjing, Jiangsu, PR China;2. Department of Pathology, The Affiliated DrumTower Hospital of Nanjing University Medical School, Nanjing, Jiangsu, PR China |
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Abstract: | Background: Mutations in Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL), and CALR are highly relevant to Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms.Methods: Assessing the prevalence of molecular mutations in Chinese Han patients with essential thrombocythemia (ET), and correlating their mutational profile with disease characteristics/phenotype.Results: Of the 110 subjects studied, 62 carried the JAK2 V617F mutation, 21 had CALR mutations, one carried an MPL (W515) mutation, and 28 had non-mutated JAK2, CALR, and MPL (so-called triple-negative ET). Mutations in JAK2 exon 12 were not detected in any patient. Two ET patients had both CALR and JAK2 V617F mutations. Comparing the hematological parameters of the patients with JAK2 mutations with those of the patients with CALR mutations showed that the ET patients with CALR mutations were younger (p?=?0.045) and had higher platelet counts (p?=?0.043).Conclusion: Genotyping for CALR could be a useful diagnostic tool for JAK2/MPL-negative ET, since the data suggest that CALR is much more prevalent than MPL, therefore testing for CALR should be considered in patients who are JAK2 negative as its frequency is almost 20 times that of MPL mutation. |
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Keywords: | Myeloproliferative neoplasms essential thrombocythemia calreticulin Janus kinase 2 |
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