RESUMO
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.
RESUMO
This case report describes the case of a man in his seventies presenting with a nasopharyngeal deposit of myeloid sarcoma associated with acute monomyelocytic leukaemia. He presented with right nasal obstruction associated with unilateral pulsatile tinnitus. CT and MRI scans of sinuses identified a moderately restricting mucosal swelling of the right torus tubarius, and a biopsy of the lesion diagnosed a nasal deposit of myeloid sarcoma.