Article
Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.
Experimental hematology - 1 Jan 2024
Borsani Oscar, Pietra Daniela, Casetti Ilaria Carola, Vanni Daniele, Riccaboni Giacomo, Catricalà Silvia, Grazia Bossi, Boveri Emanuela, Arcaini Luca, Rumi Elisa
Abstract excerpt
Hereditary thrombocytosis (HT) is a rare inherited disorder with clinical features resembling those of sporadic essential thrombocythemia. This study included 933 patients with persistent isolated thrombocytosis for whom secondary reactive causes were excluded. Of 933 patients screened, 567 were JAK2-mutated, 255 CALR-mutated, 41 MPL-mutated, 2 double-mutated, and 68 were triple-negative. Two patients carried...
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