Clinical utility of investigations in triple-negative thrombocytosis: A real-world, multicentre evaluation of UK practice.
Anna L GodfreyNikolaos SousosRebecca FrewinMahesh PrahladanAnna C GreenAndrew McGregorAlesia KhanKate MilneFaisal AminElena TorreEmma J GudginJonathan LambertAndrew James WilsonDaniel RoystonClaire N HarrisonAdam J MeadPublished in: British journal of haematology (2024)
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.
Keyphrases
- bone marrow
- end stage renal disease
- newly diagnosed
- ejection fraction
- chronic kidney disease
- healthcare
- dendritic cells
- clinical trial
- genome wide
- randomized controlled trial
- copy number
- patient reported outcomes
- cross sectional
- patient reported
- genome wide identification
- clinical practice
- genome wide analysis
- double blind