Grinsztejn E, Percy M J, McClenaghan D, Quintana M, Cuthbert R J G, McMullin M F
Medicine, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Queens University of Belfast, Belfast, UK.
Int J Lab Hematol. 2016 Feb;38(1):102-6. doi: 10.1111/ijlh.12447. Epub 2015 Nov 11.
To investigate the prevalence of calreticulin (CALR) mutations in JAK2- and MPL-non-mutated patients with suspected myeloproliferative neoplasm (MPN) from a large MPN clinic and confirm a diagnosis of MPN.
JAK2/MPL-non-mutated patients from the Belfast City Hospital (BCH) with either of the MPNs - ET or MF - and diagnosed between 1988 and 2014 were selected for CALR screen. All cases were validated according to the WHO 2008 classification for MPNs. Statistical analysis was performed with Minitab 16 Statistical Software package. Exon 9 of CALR was amplified by PCR using genomic DNA, and mutations were detected by fragment analysis.
Of the 62 JAK2/MPL-non-mutated MPN patients screened, 57 had ET and 5 had MF; 34 patients (53.1%) carried CALR mutations. Three of 5 MF patients were CALR positive. Thirty-one ET patients (54.3%) harboured CALR mutation, whereas 26 (45.7%) were classified as 'triple negatives'.
Detection of CALR mutations in a cohort of JAK2/MPL-non-mutated patients with suspected MPN confirmed the diagnosis of MPN in around 53% of cases. This is lower than initially reported, but similar to subsequent studies. However, a sizable cohort of patients remains lacking a specific molecular marker.
为了调查来自一家大型骨髓增殖性肿瘤（MPN）诊所的疑似MPN患者中，JAK2和MPL未突变患者中钙网蛋白（CALR）突变的患病率，并确诊MPN。
选取1988年至2014年间在贝尔法斯特市医院（BCH）被诊断为MPN（真性红细胞增多症或原发性骨髓纤维化）且JAK2/MPL未突变的患者进行CALR筛查。所有病例均根据世界卫生组织2008年MPN分类标准进行验证。使用Minitab 16统计软件包进行统计分析。利用基因组DNA通过聚合酶链反应（PCR）扩增CALR的第9外显子，并通过片段分析检测突变。
在筛查的62例JAK2/MPL未突变的MPN患者中，57例为真性红细胞增多症，5例为原发性骨髓纤维化；34例患者（53.1%）携带CALR突变。5例原发性骨髓纤维化患者中有3例CALR呈阳性。31例真性红细胞增多症患者（54.3%）存在CALR突变，而26例（45.7%）被归类为“三阴性”。
在一组疑似MPN的JAK2/MPL未突变患者中检测CALR突变，在约53%的病例中确诊了MPN。这一比例低于最初报道，但与后续研究相似。然而，仍有相当一部分患者缺乏特异性分子标志物。
