血小板增多症
医学
骨髓增生性肿瘤
组织学
髓样
内科学
骨髓
血液学
胃肠病学
血小板
病理
骨髓纤维化
作者
Anna L. Godfrey,Nikolaos Sousos,Rebecca Frewin,Mahesh Prahladan,Anna Green,Andrew McGregor,Alesia Khan,Kate Milne,Faisal Mohammad Amin,Elena Torre,Emma Gudgin,Jonathan Lambert,Andrew J. Wilson,Daniel Royston,Claire Harrison,Adam J. Mead
摘要
Summary 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.
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