Cesar Jesus M, Cabello Pablo, Ferro Teresa, Navarro J L
Department of Haematology, Hospital Ramon y Cajal, Ctera Colmenar Km 9,1, 28034 Madrid, Spain.
Cancer Genet Cytogenet. 2006 May;167(1):74-7. doi: 10.1016/j.cancergencyto.2005.10.005.
A 65-year-old woman presented with clinical features of primary thrombocythemia (PT), and absence of the BCR/ABL fusion gene. She responded to hydroxyurea treatment, although after 1 year she required progressive increases in the dose. Six years later, she maintained a high platelet count despite hydroxyurea at 2 g/day and treatment was changed to anagrelide. After 3 weeks, both platelet and leukocyte counts increased. A karyotype study detected the Philadelphia chromosome in all of the 24 metaphases studied. Fluorescent in situ hybridization (FISH) analysis revealed the BCR/ABL rearrangement. The patient was treated with imatinib mesylate and achieved a normal platelet and leukocyte count in 3 weeks. Patients presenting clinical features of PT expressing the Ph chromosome or the BCR/ABL fusion gene have been well documented but, to our knowledge, this is the first report of evolution from typical PT to chronic myeloid leukemia.
一名65岁女性表现出原发性血小板增多症（PT）的临床特征，且不存在BCR/ABL融合基因。她对羟基脲治疗有反应，尽管1年后她需要逐渐增加剂量。6年后，尽管每天服用2 g羟基脲，她的血小板计数仍维持在高位，于是治疗改为使用阿那格雷。3周后，血小板和白细胞计数均升高。一项核型研究在所有研究的24个中期相中均检测到费城染色体。荧光原位杂交（FISH）分析显示存在BCR/ABL重排。该患者接受甲磺酸伊马替尼治疗，3周内血小板和白细胞计数恢复正常。表现出PT临床特征且表达Ph染色体或BCR/ABL融合基因的患者已有充分记录，但据我们所知，这是首例从典型PT演变为慢性髓性白血病的报告。
