The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes
The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes
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DOI：
10.1182/blood-2005-03-1183
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发表时间：
2005-08-15
期刊：
影响因子：
20.3
通讯作者：
Tefferi, A
中科院分区：
文献类型：
--
作者：
Steensma, DP;Dewald, GW;Tefferi, A
最近在真性红细胞增多症、原发性血小板增多症和骨髓纤维化伴髓样化生中描述了Janus激酶2（JAK2）酪氨酸激酶的JH2自抑制结构域的体细胞突变。这种突变在“非典型”骨髓增生性疾病（MPD）或骨髓增生异常综合征（MDS）中的患病率尚不清楚。对245名患者（119名慢性粒单核细胞白血病（CMML）、101名MDS、11名高嗜酸性粒细胞综合征（HES）、8名系统性肥大细胞增多症（SM）和6名慢性嗜酸性粒细胞白血病（CNL））的骨髓来源基因组DNA进行JAK 2 V617 F突变筛查。在11例患者中检测到突变等位基因：CMML 3例（3%），MDS 5例（5%），SM 2例，CNL 1例。有趣的是，其中一名SM患者和一名JAK2 V617 F CNL患者有淋巴瘤病史，这名SM患者也有相关的骨髓纤维化和CMML。目前的观察结果加强了JAK2 V617 F和经典MPD之间的特定关联，但也表明在其他骨髓疾病中很少发生。
A somatic mutation in the JH2 autoinhibitory domain of the Janus kinase 2 (JAK2) tyrosine kinase was recently described in polycythemia vera, essential thrombocythemia, and myelofibrosis with myeloid metaplasia. The prevalence of this mutation in either "atypical" myeloproliferative disorders (MPDs) or the myelodysplastic syndromes (MDSs) is unknown. Bone marrow-derived genomic DNA from 245 patients-119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)-was screened for the JAK2 V617F mutation. A mutant allele was detected in 11 patients: 3 with CMML (3%), 5 with MDS (5%), 2 with SM, and 1 with CNL. Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders.