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Lookup NU author(s): Dr Andrew McGregor
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© 2024 British Society for Haematology and John Wiley & Sons Ltd. 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.
Author(s): Godfrey AL, Sousos N, Frewin R, Prahladan M, Green AC, McGregor A, Khan A, Milne K, Amin F, Torre E, Gudgin EJ, Lambert J, Wilson AJ, Royston D, Harrison CN, Mead AJ
Publication type: Article
Publication status: Published
Journal: British Journal of Haematology
Year: 2024
Pages: ePub ahead of Print
Online publication date: 14/07/2024
Acceptance date: 03/07/2024
ISSN (print): 0007-1048
ISSN (electronic): 1365-2141
Publisher: John Wiley and Sons Inc.
URL: https://doi.org/10.1111/bjh.19643
DOI: 10.1111/bjh.19643
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