JAK1/2抑制剂鲁索替尼改善真性红细胞增多症后骨髓纤维化伴血小板减少症患者的骨髓纤维化：1例携带JAK2外显子12突变的病例报告
The Amelioration of Myelofibrosis with Thrombocytopenia by a JAK1/2 Inhibitor, Ruxolitinib, in a Post-polycythemia Vera Myelofibrosis Patient with a JAK2 Exon 12 Mutation.
作者信息
Ikeda Kazuhiko, Ueda Koki, Sano Takahiro, Ogawa Kazuei, Ikezoe Takayuki, Hashimoto Yuko, Morishita Soji, Komatsu Norio, Ohto Hitoshi, Takeishi Yasuchika
机构信息
Department of Hematology, Fukushima Medical University, Japan.
Department of Transfusion and Transplantation Immunology, Fukushima Medical University, Japan.
出版信息
Intern Med. 2017;56(13):1705-1710. doi: 10.2169/internalmedicine.56.7871. Epub 2017 Jul 1.
Less than 5% of patients with polycythemia vera (PV) show JAK2 exon 12 mutations. Although PV patients with JAK2 exon 12 mutations are known to develop post-PV myelofibrosis (MF) as well as PV with JAK2V617F, the role of JAK inhibitors in post-PV MF patients with JAK2 exon 12 mutations remains unknown. We describe how treatment with a JAK1/2 inhibitor, ruxolitinib, led to the rapid amelioration of marrow fibrosis, erythrocytosis and thrombocytopenia in a 77-year-old man with post-PV MF who carried a JAK2 exon 12 mutation (JAK2H538QK539L). This case suggests that ruxolitinib is a treatment option for post-PV MF in patients with thrombocytopenia or JAK2 exon 12 mutations.
真性红细胞增多症（PV）患者中，JAK2外显子12突变的患者不到5%。虽然已知携带JAK2外显子12突变的PV患者会发展为PV后骨髓纤维化（MF）以及伴有JAK2V617F的PV，但JAK抑制剂在携带JAK2外显子12突变的PV后MF患者中的作用仍不清楚。我们描述了一名77岁携带JAK2外显子12突变（JAK2H538QK539L）的PV后MF男性患者，使用JAK1/2抑制剂鲁索替尼治疗如何迅速改善了骨髓纤维化、红细胞增多症和血小板减少症。该病例表明，鲁索替尼是血小板减少症或JAK2外显子12突变的PV后MF患者的一种治疗选择。
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