杨仁池、张磊课题组在Leukemia期刊宣布原发性血小板增多症相关研讨文章

  杨仁池张磊课题组在Leukemia期刊宣布文章“Analysis of calreticulin mutations in Chinese patients with essential thrombocythemia: clinical implications in diagnosis, prognosis and treatment

  杨仁池、张磊团队经过对436例原发性血小板增多症(ET)患者的JAK2 V617FMPL及新发现基因CALR的骤变状况的研讨,发现我国ET患者的MPL基因骤变率低于欧美患者,并在ET患者中初次报导了CALR基因的获得性点骤变。CALR基因骤变患者的无血栓生存率明显高于JAK2 V617F骤变患者。研讨还发现不同的CALR基因骤变亚型之间在临床特色上也存在差异。JAK2 V617F骤变能够作为开端抗血小板及减低血小板医治的分子标志,而独自存在CALR基因骤变不足以成为开端药物医治的目标。以上结果表明CALR基因骤变和JAK2 V617F骤变在我国ET患者的确诊、预后判别和辅导医治中有重要价值。

  

  Abstract

  Recently, discovery of calreticulin (CALR) mutations fills the molecular diagnostic gap in essential thrombocythemia (ET). However, the prevalence of CALR mutations has not been reported in Asian patients, and its therapeutic implications have not yet been evaluated. We studied profiles of JAK2 V617F, MPL and CALR mutations in 436 Chinese ET patients. Compared with Caucasian patients, Chinese patients had a lower frequency of MPL mutations. We reported the first somatic point mutation in CALR in ET patients. The lower frequency of thrombosis in CALR-mutated patients was most likely due to the low thrombotic rate in type 2 CALR-mutated patients. Although no difference concerning fibrotic transformation was found between CALR-mutated and V617F+ ET, CALR-mutated patients had a higher degree of reticulin deposition. The difference was mostly ascribed to the higher rate of grade 1 reticulin deposition in type 1 CALR-mutated patients. Combination use of antiplatelet and cytoreductive agents decreased the risk of thrombosis in V617F+ patients, but not in CALR-mutated cases. We confirm the value of CALR mutations in the diagnosis and prognosis of ET in Chinese patients, and provide new evidence for making treatment strategies based on molecular markers.

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