三阴性血小板增多症研究的临床效用：对英国实践的真实世界、多中心评估。
Clinical utility of investigations in triple-negative thrombocytosis: A real-world, multicentre evaluation of UK practice.
发表日期：2024 Jul 14
作者：
Anna L Godfrey, Nikolaos Sousos, Rebecca Frewin, Mahesh Prahladan, Anna C Green, Andrew McGregor, Alesia Khan, Kate Milne, Faisal Amin, Elena Torre, Emma J Gudgin, Jonathan Lambert, Andrew J Wilson, Daniel Royston, Claire N Harrison, Adam J Mead
来源：
BRITISH JOURNAL OF HAEMATOLOGY
摘要：
对于缺乏 JAK2/CALR/MPL 突变的患者，诊断原发性血小板增多症 (ET) 具有挑战性。在对 320 名“三阴性血小板增多症”患者的回顾性评估中，我们评估了骨髓组织学（90.9% 的患者）和骨髓基因组（MGP，55.6%）的效用。支持性组织学（“骨髓增生性肿瘤确定/可能”，36.8%）与较高的血小板计数相关，并且在不同中心之间存在差异。 14.6% MGP 显示显着变异：3.4% JAK2/CALR/MPL 和 11.2% 其他骨髓基因。最终的临床诊断是通过组织学而非 MGP 强烈预测的。 23.7% 接受了细胞减灭术（17.6% 60 岁以下）。现实世界中的“三阴性”ET 诊断目前在很大程度上取决于组织学；我们提倡谨慎对待 MGP 阴性病例，并且需要具体的指导方针。© 2024 英国血液学会和 John Wiley
Diagnosis of essential thrombocythaemia (ET) is challenging in patients lacking JAK2/CALR/MPL mutations. In a retrospective evaluation of 320 patients with 'triple-negative thrombocytosis', we assessed utility of bone marrow histology (90.9% of patients) and myeloid gene panel (MGP, 55.6%). Supportive histology ('myeloproliferative neoplasm-definite/probable', 36.8%) was associated with higher platelet counts and varied between centres. 14.6% MGP revealed significant variants: 3.4% JAK2/CALR/MPL and 11.2% other myeloid genes. Final clinical diagnosis was strongly predicted by histology, not MGP. 23.7% received cytoreduction (17.6% under 60 years). Real-world 'triple-negative' ET diagnosis currently depends heavily on histology; we advocate caution in MGP-negative cases and that specific guidelines are needed.© 2024 British Society for Haematology and John Wiley & Sons Ltd.