Takizawa Makiko, Yokohama Akihiko, Sekigami Tomomi, Koiso Hiromi, Ishizaki Takuma, Mitsui Takeki, Ogawa Yoshiyuki, Saitoh Takayuki, Handa Hiroshi, Tsukamoto Norifumi, Murakami Hirokazu, Nojima Yoshihisa
Department of Medicine and Clinical Science, Graduate School of Medicine, Gunma University.
Rinsho Ketsueki. 2014 Jun;55(6):687-91.
Herein, we report a patient with polycythemia vera (PV) who exhibited Philadelphia chromosome (Ph) positive CML-like clinical features after 13 years of hydroxycarbamide administration and successful treatment with a tyrosine kinase inhibitor (TKI). She was 64 years old when initially diagnosed with PV and was confirmed to be negative for BCR-ABL translocation. Thirteen years later, with increasing white blood cell and platelet counts, a BCR-ABL positive clone emerged and the JAK2V617F mutation disappeared. After TKI treatment, the BCR-ABL copy number decreased and the JAK2V617F mutation was again detected. Furthermore, MPN clinical features were observed. This case provides insights into the clonal divergence and growth advantage of the Ph positive clone over the MPN clone. Whether JAK2V617F is an MPN initiating event or a secondary mutation has been a point of discussion for the past several years. This issue is also considered in the present report.
在此,我们报告一例真性红细胞增多症(PV)患者,该患者在接受羟基脲治疗13年后出现费城染色体(Ph)阳性的慢性粒细胞白血病(CML)样临床特征,并接受酪氨酸激酶抑制剂(TKI)成功治疗。她最初被诊断为PV时64岁,BCR-ABL易位检测为阴性。13年后,随着白细胞和血小板计数增加,出现了BCR-ABL阳性克隆,JAK2V617F突变消失。TKI治疗后,BCR-ABL拷贝数下降,JAK2V617F突变再次被检测到。此外,还观察到骨髓增殖性肿瘤(MPN)的临床特征。该病例为Ph阳性克隆相对于MPN克隆的克隆分化和生长优势提供了见解。在过去几年中,JAK2V617F是MPN起始事件还是继发突变一直是讨论的焦点。本报告也考虑了这个问题。