Article
Extreme thrombocytosis with an aggressive evolution harboring a novel variant of calreticulin (CALR) in exon 3.
European journal of haematology - 1 Mar 2024
Bonnet Sarah, Carillo Serge, Legrand Baptiste, Burroni Barbara, Lavabre-Bertrand Thierry, Requirand Guilhem, Robert Nicolas, Fornero Lea, Al Mansoori Ahmed, Moreaux Jérôme, Cartron Guillaume, Gabellier Ludovic, Herbaux Charles
Abstract excerpt
We describe the case of a patient with extreme thrombocytosis whose evolution was rapidly fatal. No cause of secondary thrombocytosis was found. There was no sign of myelofibrosis but the megakaryocytes were small and dysplastic. The patient presented a calreticulin (CALR) variant in exon 3 (C105S), as well as concomitant mutations of ASXL1, U2AF1, and EZH2. This variant of CALR has never been described before,...
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