真性红细胞增多症JAK2不同位点突变的临床特点比较
2011-01-13
来源：医学论坛网
期刊影响因子:10.556
日前，一项来自意、德等欧洲多国的联合研究显示，JAK2基因第12号外显子突变的真性红细胞增多症（polycythemia vera, PV）患者，与JAK2基因第14号外显子中V617F突变的PV患者相比，虽然表型存在差异，但两者的疾病转归相似。研究报告1月11日在线发表于《血液》（blood）杂志网站。
大约95%的PV患者存在JAK2基因第14号外显子中的V617F突变，在其余患者中，有研究发现JAK2基因第12号外显子存在若干突变。该研究旨在揭示携带这些突变的患者其分子和临床特点。
共有106例PV患者被纳入到此次研究中，并被检出了17种不同的突变。不考虑突变因素，其中2/3的PV患者表现为单纯性红细胞增多，其余患者在红细胞增多的同时，还伴有白细胞增多和（或）血小板增多。相较于JAK2（V617F）阳性的PV患者，携带第12号外显子突变的患者在诊断时有明显较高的血红蛋白水平和较低的血小板和白细胞计数，但血栓形成、骨髓纤维化、白血病和死亡发生率在两者间相似。多因素分析显示，年龄超过60岁和之前有过血栓史的患者，今后发生血栓的可能性较大。（来源：Science Daily）
医脉通推荐英文摘要
Blood. 2011 Jan 11.DOI 10.1182/blood-2010-11-316810.
Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.
Passamonti F, Elena C, Schnittger S, Skoda RC,
(Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy)
While about 95% of patients with polycythemia vera (PV) harbor the V617F mutation in JAK2 exon 14, several mutations in exon 12 have been described in the remaining patients. We conducted a European collaborative study to define the molecular and clinical features of patients harboring these mutations. Overall, 106 PV were recruited and 17 different mutations identified. Irrespective of the mutation, two thirds of patients had isolated erythrocytosis, while the remaining subjects had erythrocytosis plus leukocytosis and/or thrombocytosis. When compared to JAK2 (V617F)-positive PV patients, those with exon 12 mutations had significantly higher hemoglobin level and lower platelet and leukocyte counts at diagnosis, but similar incidences of thrombosis, myelofibrosis, leukemia and death. In a multivariable analysis, age over 60 years and prior thrombosis predicted thrombosis. These findings suggest that, despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PV is similar to that of JAK2 (V617F)-positive PV.
更多阅读
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.Blood, 2008.111(3):1686-1689
Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations.Blood, 2008.111(7):3863-3866.
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