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            楊仁池張磊課題組在Leukemia期刊發表文章“Analysis of calreticulin mutations in Chinese patients with essential thrombocythemia: clinical implications in diagnosis, prognosis and treatment

            楊仁池、張磊團隊通過對436例原發性血小板增多癥(ET)患者的JAK2 V617FMPL及新發現基因CALR的突變情況的研究,發現中國ET患者的MPL基因突變率低于歐美患者,并在ET患者中首次報道了CALR基因的獲得性點突變。CALR基因突變患者的無血栓生存率顯著高于JAK2 V617F突變患者。研究還發現不同的CALR基因突變亞型之間在臨床特點上也存在差異。JAK2 V617F突變可以作為開始抗血小板及減低血小板治療的分子標志,而單獨存在CALR基因突變不足以成為開始藥物治療的指標。以上結果表明CALR基因突變和JAK2 V617F突變在中國ET患者的診斷、預后判斷和指導治療中有重要價值。



            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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          主辦:中國醫學科學院血液學研究所血液病醫院  技術支持:北方網