Masarova Lucia, Verstovsek Srdan
Lucia Masarova and Srdan Verstovsek, The University of Texas MD Anderson Cancer Center, Houston, TX.
J Clin Oncol. 2018 Oct 22:JCO2018793497. doi: 10.1200/JCO.2018.79.3497.
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 51-year-old woman was diagnosed with essential thrombocythemia (ET) the previous year (April 2016) when she was incidentally found to have increased platelets (747 × 10/L) during a yearly physical examination. Her past medical history was significant only for mild hypertension, which was well controlled with a low dose of a β-blocker. There was no history of thromboembolic events. A JAK2 mutation was detected in her peripheral blood. A repeated platelet count 1 month later showed increased platelets of 871 × 10/L and she began hydroxyurea. One year later, she presented to our clinic with a white cell count of 8.9 × 10/L, hemoglobin 14 g/dL, and platelets 846 ×10/L while receiving hydroxyurea 500 mg one day alternating with 1000 mg the next day and aspirin 81 mg once per day. The differential as well as other laboratory findings were within normal limits. She had chronic mild to moderate itching, but otherwise denied symptoms referable to ET. Her physical examination was notable for the absence of palpable hepatosplenomegaly. Bone marrow aspiration and biopsy revealed normocellular marrow with hyperplastic megakaryocytes in clusters, no reticulin fibrosis, and 2% blasts, compatible with ET. Molecular testing confirmed JAK2 mutations at a variant allele frequency of 12% without any other mutations (81-gene panel), and her karyotype was diploid. She visited the clinic to discuss the next steps in her treatment.
肿瘤学大查房系列旨在将发表在《杂志》上的原始报告置于临床背景中。先进行病例展示，随后描述诊断和管理挑战、回顾相关文献，并总结作者建议的管理方法。本系列的目标是帮助读者更好地理解如何将关键研究的结果，包括发表在《临床肿瘤学杂志》上的研究结果，应用于他们在自己临床实践中见到的患者。一名51岁女性于前一年（2016年4月）被诊断为原发性血小板增多症（ET），当时她在年度体检中偶然发现血小板增多（747×10⁹/L）。她既往病史仅有轻度高血压，通过低剂量β受体阻滞剂控制良好。无血栓栓塞事件史。外周血检测到JAK2突变。1个月后复查血小板计数显示血小板增至871×10⁹/L，她开始服用羟基脲。1年后，她前来我们诊所就诊，当时白细胞计数为8.9×10⁹/L，血红蛋白14g/dL，血小板846×10⁹/L，正在服用羟基脲，剂量为500mg一天、1000mg第二天交替服用，以及阿司匹林81mg每日一次。分类计数及其他实验室检查结果均在正常范围内。她有慢性轻度至中度瘙痒，但否认有与ET相关的其他症状。体格检查未触及肝脾肿大。骨髓穿刺和活检显示骨髓细胞正常，巨核细胞增生呈簇状，无网状纤维增生，原始细胞占2%，符合ET表现。分子检测证实JAK2突变，变异等位基因频率为12%，无其他任何突变（81基因检测 panel），其核型为二倍体。她前来诊所讨论下一步治疗方案。
