Department of Biology and Genetics, Medical University of Gdańsk, Debinki 1, 80-210 Gdańsk, Poland.
Leuk Res. 2010 Mar;34(3):387-9. doi: 10.1016/j.leukres.2009.06.017. Epub 2009 Jul 29.
We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders. Our results confirm that routine JAK2 analysis should include exon 12 mutations in polycythemia vera patients. MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm.
我们报告了三例 JAK2 外显子 12、19 和 25 中的新突变，这些患者的 JAK2 V617F 为阴性，患有真性红细胞增多症、原发性血小板增多症和特发性骨髓纤维化。对 JAK2 外显子 12-25 和 MPL 外显子 10 的扫描显示，在 34 例骨髓增生性疾病患者中，有 6 例存在 JAK2 改变，有 5 例存在 MPL W515L/K 突变。我们的结果证实，常规 JAK2 分析应包括真性红细胞增多症患者的外显子 12 突变。MPL 基因突变似乎与血小板增多有关，而与骨髓增生性肿瘤的类型无关。
