AI Article Synopsis
- Diagnosis of essential thrombocythaemia (ET) is difficult for patients without specific genetic mutations, prompting a study of 320 'triple-negative thrombocytosis' patients to evaluate bone marrow histology and a myeloid gene panel.
- Histology showed that 36.8% of patients had supportive findings indicating myeloproliferative neoplasm, correlating with higher platelet counts, while only 14.6% of gene tests revealed significant variants.
- The study emphasizes the importance of histology in diagnosing 'triple-negative' ET, highlighting the need for caution when relying on myeloid gene panel results and suggesting the development of specific guidelines for such cases.
Article Abstract
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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| http://dx.doi.org/10.1111/bjh.19643 | DOI Listing |
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