Klampfl T, et al. Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms. DOI: 10.1056/NEJMoa1311347
A newly identified mutation fills the gap in the molecular pathogenesis of MPN and brings hope to many MPN patients: To date a recently identified mutation in the gene called Janus kinase 2 (JAK2) MPN could be held responsible for MPN in 3/4 of the patients. The remaining patients however did not benefit from this discovery as their MPN was not caused by JAK2 mutations. The research group of Robert Kralovics at CeMM in collaboration with Heinz Gisslinger´s group at the Medical University of Vienna now succeeded in the discovery of a new mutation in the gene encoding calreticulin (CALR). This discovery explains about 75 % of the cases for which the reason was unknown so far. It comes to the benefit of millions of patients worldwide as a molecular diagnostic test was made available immediately. The findings have been published advanced online in the New England Journal of Medicine (NEJM) and was being discussed at the Annual Meeting of American Society of Hematology (ASH). The study has been supported by grants from the MPN Research Foundation and the Austrian Academy of Sciences.
The results reported in NEJM were presented and discussed with the press in Vienna, on December 13 by Giulio Superti-Furga, Scientific Director of CeMM, Markus Müller, Vice Rector of the Medical University of Vienna, Robert Kralovics, Principal Investigator at CeMM and project leader of the research study, and co-author Heinz Gisslinger of the Medical University of Vienna.