Authors
Thorsten Klampfl, Heinz Gisslinger, Ashot S Harutyunyan, Harini Nivarthi, Elisa Rumi, Jelena D Milosevic, Nicole CC Them, Tiina Berg, Bettina Gisslinger, Daniela Pietra, Doris Chen, Gregory I Vladimer, Klaudia Bagienski, Chiara Milanesi, Ilaria Carola Casetti, Emanuela Sant'Antonio, Virginia Ferretti, Chiara Elena, Fiorella Schischlik, Ciara Cleary, Melanie Six, Martin Schalling, Andreas Schönegger, Christoph Bock, Luca Malcovati, Cristiana Pascutto, Giulio Superti-Furga, Mario Cazzola, Robert Kralovics
Publication date
2013/12/19
Journal
New England Journal of Medicine
Volume
369
Issue
25
Pages
2379-2390
Publisher
Massachusetts Medical Society
Description
Background
Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to 10% have activating mutations in the thrombopoietin receptor gene (MPL). So far, no specific molecular marker has been identified in the remaining 30 to 45% of patients.
Methods
We performed whole-exome sequencing to identify somatically acquired mutations in six patients who had primary myelofibrosis without mutations in JAK2 or MPL. Resequencing of CALR, encoding calreticulin, was then performed in cohorts of patients with myeloid neoplasms.
Results
Somatic insertions or deletions in exon 9 of CALR were detected in all patients who underwent whole-exome sequencing. Resequencing in 1107 samples from patients with myeloproliferative neoplasms showed that CALR mutations were absent in polycythemia vera. In …
Total citations
Scholar articles
T Klampfl, H Gisslinger, AS Harutyunyan, H Nivarthi… - New England Journal of Medicine, 2013