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Calreticulin ( CALR ) and  JAK2 -V617F gene mutations, which are major genetic mutations in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET), exert different effects on the clinical features and outcomes of these diseases. We analyzed 88 and 9 patients with ET and PMF, respectively, and determined the differences in the clinical characteristics of ET patients with  JAK2 -V617F compared with  CALR  mutations. The frequency of the  JAK2 -V617F and  CALR  mutations were 64 and 22 %, respectively. Patients with  CALR  mutations were younger, had a lower white blood cell count, and had a lower rate of thrombotic events than patients with the  JAK2  mutation. The neutrophil alkaline phosphatase (NAP) score of 16 patients with  CALR  mutations was significantly lower than the normal controls, which was mainly due to the high proportion of NAP-negative neutrophils. This is the first report to show an association between  CALR  mutations in patients with myeloproliferative neoplasms (MPN) and the NAP score. Although the mechanism is unclear, the NAP score could be a useful and reliable biochemical marker to discriminate the mutational status of MPN patients. Further investigation is warranted to determine whether these characteristics contribute to the pathogenesis of MPN and the NAP score.

Low neutrophil alkaline phosphatase score is a new aspect of calreticulin-mutated myeloproliferative neoplasms