[30例早期骨髓增殖性疾病疑似病例中JAK2V617F和MPLW515L/K突变的表达情况]
[Expression of JAK2V617F and MPLW515L/K mutation in 30 suspected cases of early myeloproliferative disorders].
作者信息
Fan Zheng, Zhang Ri, Shen Yi-Min, Fei Hai-Rong, Zhu Zi-Ling, Cen Jian-Nong
机构信息
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2008 Sep;29(9):611-4.
OBJECTIVE
To investigate the prevalence of JAK2V617F and MPLW515L/K mutation in patients with slightly elevated platelets (BPC) or hemoglobin (Hb) not meeting the criteria of polycythemia vera (PV) or essential thrombocythemia (ET).
METHODS
Genomic DNA from bone marrow or blood mononuclear cells was screened with allele specific polymerase chain reaction (AS-PCR) for JAK2V617F and MPLW515L/K mutation. The history of thrombosis was assessed retrospectively by patients files.
RESULTS
Of 30 patients, 14 (46.7%) were positive for the JAK2V617F mutation, none of them had the MPLW515L/ K. Five of these 14 patients had a history of thrombosis. Follow-up results were available in 22 patients. Among them, 12 patients with JAK2V617F mutation turned out to be MPD in 6-24 months; only 2 out of 10 patients without this mutation evolved to MPD.
CONCLUSION
JAK2V617F mutation could be one of the diagnosis criteria of early MPD. No MPLW515L/K expression was found in early MPD.
目的
调查血小板（BPC）轻度升高或血红蛋白（Hb）升高但未达到真性红细胞增多症（PV）或原发性血小板增多症（ET）诊断标准的患者中JAK2V617F和MPLW515L/K突变的发生率。
方法
采用等位基因特异性聚合酶链反应（AS-PCR）对骨髓或血液单个核细胞的基因组DNA进行JAK2V617F和MPLW515L/K突变筛查。通过患者病历回顾性评估血栓形成史。
结果
30例患者中，14例（46.7%）JAK2V617F突变阳性，均无MPLW515L/K突变。这14例患者中有5例有血栓形成史。22例患者有随访结果。其中，12例JAK2V617F突变患者在6 - 24个月内发展为骨髓增殖性疾病（MPD）；10例无此突变的患者中只有2例发展为MPD。
结论
JAK2V617F突变可能是早期MPD的诊断标准之一。早期MPD中未发现MPLW515L/K表达。
Zotero 插件