Neil P. Shah, University of California, San Francisco, San Francisco, CA.
J Clin Oncol. 2018 Jan 20;36(3):220-224. doi: 10.1200/JCO.2017.75.4663. Epub 2017 Dec 5.
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice. A 40-year-old woman with a past medical history of hypertension and occasional premature ventricular contractions was found on routine blood work in June 2011 to have mild thrombocytosis, with a platelet count of 405,000. In November 2011, repeat analysis revealed a platelet count of 433,000, and by February 2012 her platelet count was 509,000. She had no evidence of leukocytosis or anemia and no symptoms of early satiety, night sweats, pruritus, or erythromelalgia. She was referred to a hematologist for evaluation of persistent isolated thrombocytosis in March 2012. Her spleen was not palpable, and a quantitative polymerase chain reaction (PCR) test for JAK2/V617F was negative. A bone marrow biopsy and aspiration revealed a mildly hypercellular marrow (70% to 80% cellularity), with an elevated myeloid:erythroid ratio of 5:1, increased megakaryocytes including micromegakaryocytes in the absence of increased blasts. Cytogenetic analysis revealed the presence of the Philadelphia chromosome translocation in 17 out of 20 metaphases. The remaining three metaphases were normal karyotype. Quantitative PCR for BCR-ABL1 yielded a value of 29.6% on the International Scale.
一名 40 岁女性,既往高血压病史,偶发室性期前收缩,于 2011 年 6 月常规查血时发现血小板轻度升高,血小板计数为 405000。2011 年 11 月复查时血小板计数为 433000,至 2012 年 2 月血小板计数达 509000。患者无白细胞增多或贫血,无早饱、盗汗、瘙痒或红斑性肢痛等症状。2012 年 3 月因持续性孤立性血小板增多症就诊于血液科。其脾脏未触及肿大,JAK2/V617F 定量聚合酶链反应(PCR)检测阴性。骨髓活检和抽吸显示骨髓增生活跃(70%~80%为有核细胞),粒红比增高为 5:1,巨核细胞增多,包括微巨核细胞,但无增多的原始细胞。核型分析显示 20 个中期分裂相中 17 个存在费城染色体易位,其余 3 个中期分裂相为正常核型。BCR-ABL1 的定量 PCR 检测国际标准化比值(International Scale)为 29.6%。