Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

Blood - Tập 127 - Trang 333-342 - 2016
Xénia Cabagnols1,2,3, Fabrizia Favale1,2,3, Florence Pasquier1,2,3, Kahia Messaoudi1,2,3, Jean Philippe Defour4,5, Jean Christophe Ianotto6, Christophe Marzac7, Jean Pierre Le Couédic1,2,3, Nathalie Droin1,2,3, Ilyas Chachoua4,5, Remi Favier1,2,3, M'boyba Khadija Diop1,2,3, Valérie Ugo8, Nicole Casadevall1,2,3,7, Najet Debili1,2,3, Hana Raslova1,2,3, Christine Bellanné-Chantelot1,2,3,9, Stefan N. Constantinescu4,5, Olivier Bluteau1,2,3, Isabelle Plo1,2,3
1INSERM, Unité Mixte de Recherche (UMR) 1170, Gustave Roussy, Villejuif, France;
2Université Paris-Saclay, UMR1170, Gustave Roussy, Villejuif, France;
3UMR1170, Gustave Roussy, Villejuif, France;
4de Duve Institute, Université catholique de Louvain, Brussels, Belgium
5Ludwig Institute for Cancer Research, Signal Transduction & Molecular Hematology Unit, Brussels, Belgium;
6Service d'Hématologie, Centre Hospitalier Universitaire (CHU) Brest, Brest, France;
7Laboratoire d'Hématologie, Hôpital Saint Antoine, Assistance Publique-Hôpitaux de Paris, Paris, France;
8Laboratoire d'Hématologie, CHU Brest, Brest, France;
9Département de Génétique, Hôpital Pitié-Salpêtrière, Université Pierre et Marie Curie, Assistance Publique-Hôpitaux de Paris, Paris, France; and

Tóm tắt

Key PointsEnrichment of atypical MPL mutations in essential thrombocythemia. MPLS204P and MPLY591N mutants are weak gain-of-function mutants.

Tài liệu tham khảo

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