Extreme thrombocytosis with an aggressive evolution harboring a novel variant of calreticulin (CALR) in exon 3.

Autor: Bonnet S; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France., Carillo S; Département d'Hématologie biologique, Laboratoire de Cytologie Clinique et Cytogénétique, CHRU Nîmes, Nîmes, France., Legrand B; IBMM, Univ Montpellier, CNRS, ENSCM, Montpellier, France., Burroni B; Centre de Recherche des Cordeliers, Sorbonne Université, Inserm, UMRS 1138, Université de Paris Cité, Paris, France.; Department of Pathology Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Cochin, Paris, France., Lavabre-Bertrand T; Département d'Hématologie biologique, Laboratoire de Cytologie Clinique et Cytogénétique, CHRU Nîmes, Nîmes, France., Requirand G; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.; Pôle de biologie, Centre Hospitalier Universitaire, Montpellier, France., Robert N; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.; Pôle de biologie, Centre Hospitalier Universitaire, Montpellier, France., Fornero L; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France., Al Mansoori A; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France., Moreaux J; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.; Pôle de biologie, Centre Hospitalier Universitaire, Montpellier, France., Cartron G; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France., Gabellier L; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.; Institut de Génétique Moléculaire de Montpellier, CNRS-UMR5535, Montpellier, France., Herbaux C; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.
Jazyk: angličtina
Zdroj: European journal of haematology [Eur J Haematol] 2024 Mar; Vol. 112 (3), pp. 475-478. Date of Electronic Publication: 2023 Nov 02.
DOI: 10.1111/ejh.14126
Abstrakt: 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, and after sorting, all identified mutations were found in myeloid cells but not in lymphoid cells. Therefore, the diagnosis of a frontier case of myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) was made. A treatment with hydroxycarbamide was started because of a high risk of thrombosis. Upon worsening of the hematological status two new mutations appeared, SETBP1 and ETV6, and the CALR mutation was still detectable, as well as the three other mutations found in the chronic stage. Our results show that this variant could contribute to MDS/MPN pathogenesis in that patient.
(© 2023 The Authors. European Journal of Haematology published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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