Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms

• Published in: The New England journal of medicine Vol. 369; no. 25; pp. 2379 - 2390
• Main Authors: Klampfl, Thorsten, Gisslinger, Heinz, Harutyunyan, Ashot S, Nivarthi, Harini, Rumi, Elisa, Milosevic, Jelena D, Them, Nicole C.C, Berg, Tiina, Gisslinger, Bettina, Pietra, Daniela, Chen, Doris, Vladimer, Gregory I, Bagienski, Klaudia, Milanesi, Chiara, Casetti, Ilaria Carola, Sant'Antonio, Emanuela, Ferretti, Virginia, Elena, Chiara, Schischlik, Fiorella, Cleary, Ciara, Six, Melanie, Schalling, Martin, Schönegger, Andreas, Bock, Christoph, Malcovati, Luca, Pascutto, Cristiana, Superti-Furga, Giulio, Cazzola, Mario, Kralovics, Robert
• Format: Journal Article
• Language: English
• Published: Waltham, MA Massachusetts Medical Society 19.12.2013
• Subjects: Biological and medical sciences; Blood; Bone Marrow Diseases - genetics; Calreticulin; Calreticulin - genetics; Exons; General aspects; Genes; Humans; Janus kinase; Janus kinase 2; Janus Kinase 2 - genetics; Leukemia, Myeloid - genetics; Medical sciences; Medical treatment; Mutation; Myelofibrosis; Neoplasia; Polycythemia; Polycythemia vera; Polymerase Chain Reaction; Primary Myelofibrosis - genetics; Primary Myelofibrosis - mortality; Proportional Hazards Models; Receptors, Thrombopoietin - genetics; Sequence Analysis, DNA; Stat5 protein; Thrombocythemia, Essential - complications; Thrombocythemia, Essential - genetics; Thrombocythemia, Essential - mortality; Thrombopoietin; Thrombosis; Thrombosis - etiology; Transcription; United States > US; Philadelphia Pennsylvania; Medicine; Tumor; Mutation

The authors identified calreticulin mutations in the majority of patients with essential thrombocythemia and myelofibrosis who did not have JAK2 mutations. The mutation alters calreticulin protein, and cells expressing the mutant protein are more responsive to growth factors. Philadelphia chromosome...