Robinson Andrew J, Godfrey Anna L
Haematopathology and Oncology Diagnostics Service/Department of Haematology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
Hemasphere. 2021 Jan 27;5(2):e521. doi: 10.1097/HS9.0000000000000521. eCollection 2021 Feb.
Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm characterized by a persistently elevated platelet count in the absence of a secondary cause. The clinical consequences of uncontrolled thrombocytosis can include both thrombosis and hemorrhage. Patients with features conferring a "high risk" of vascular events benefit from reduction of the platelet count through cytoreductive therapy. The management of patients who lack such high-risk features has until recently been less well defined, but it is now apparent that many require minimal or even no intervention. In this review, we discuss the diagnostic pathway for younger patients with unexplained thrombocytosis, including screening molecular investigations, the role of bone marrow biopsy, and investigations in those patients negative for the classic myeloproliferative neoplasm driver mutations (, , ). We discuss conventional and novel risk stratification methods in essential thrombocythemia and how these can be best applied in clinical practice, particularly in the era of more comprehensive genomic testing. The treatment approach for "low risk" patients is discussed including antiplatelets and the options for cytoreductive therapy, if indicated, together with areas of clinical need for future study.
原发性血小板增多症（ET）是一种慢性骨髓增殖性肿瘤，其特征是在没有继发原因的情况下血小板计数持续升高。血小板增多症失控的临床后果可能包括血栓形成和出血。具有血管事件“高风险”特征的患者可通过细胞减灭性治疗降低血小板计数而获益。直到最近，对于缺乏此类高风险特征的患者的管理仍不太明确，但现在很明显，许多患者只需极少干预甚至无需干预。在本综述中，我们讨论了原因不明的血小板增多症年轻患者的诊断途径，包括筛查分子检查、骨髓活检的作用以及经典骨髓增殖性肿瘤驱动基因突变（、、）检测为阴性的患者的检查。我们讨论了原发性血小板增多症的传统和新型风险分层方法，以及如何在临床实践中最佳应用这些方法，特别是在更全面的基因组检测时代。还讨论了“低风险”患者的治疗方法，包括抗血小板药物以及如有指征时细胞减灭性治疗的选择，以及未来研究的临床需求领域。
