Shuly Yulia, Nagar Meital, Ben-Asaf Lior, Kneller Abraham, Steinberg David M, Amariglio Ninette, Salomon Ophira
Hematology Laboratory, Sheba Medical Center, Tel Hashomer, Israel.
Hematology Department, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Blood Cells Mol Dis. 2015 Dec;55(4):281-3. doi: 10.1016/j.bcmd.2015.07.011. Epub 2015 Jul 18.
Calreticulin mutation represents the second most frequent mutation after JAK2 V617F in myeloproliferative disorder and is considered to be a driving mutation. Herein the mutation burden was evaluated in patients with essential thrombocythemia or myelofibrosis and found to increase by 5.7% over time unrelated to the time elapsed from the initial to the final positive test. The longer the course of the disease when first tested (range 0-30 years, mean 7.9 years) the lower mutation burden was observed. The mutated clone was larger in type II in comparison with type I mutation when first tested but the difference in mutation burden from the final to the first positive test was significantly higher in those with type I. Similarly, the difference in mutation burden was higher in patients with essential thrombocythemia reaching almost 8% in comparison to 1.3% in post-essential thrombocythemia myelofibrosis. Thus a repeat calreticulin quantitative test is not warranted.
钙网蛋白突变是骨髓增殖性疾病中仅次于JAK2 V617F的第二常见突变，被认为是驱动性突变。在此对原发性血小板增多症或骨髓纤维化患者的突变负荷进行了评估，发现其随时间增加了5.7%，这与从首次阳性检测到最终阳性检测所经过的时间无关。首次检测时疾病病程越长（范围0 - 30年，平均7.9年），观察到的突变负荷越低。首次检测时，II型突变的突变克隆比I型突变的大，但I型患者从最终阳性检测到首次阳性检测的突变负荷差异显著更高。同样，原发性血小板增多症患者的突变负荷差异更高，几乎达到8%，而原发性血小板增多症后骨髓纤维化患者为1.3%。因此，无需重复进行钙网蛋白定量检测。
