New Mutation Identified in Primary Myelofibrosis Patients

In a late-breaking abstract presentation, Thorsten Klampfl, PhD, of the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences in Vienna, presented data from a whole exome study of primary myelofibrosis patients, identifying a new specific molecular mutation: mutations in exon 9 of the CALR gene. CALR encodes for calreticulin. CALR gene mutations represent a new mutation type not associated with the other frequent mutations among primary myelofibrosis patients: mutations in JAK2 and MPL. Here, Thorsten Klampfl summarizes these results and discusses the implications of the new findings.

Reference: Klampfl T, Gisslinger H, Harutyunyan AS, et al. Frequent mutations in the calreticulin gene CALR in myeloproliferative neoplasms. ASH Annual Meeting Abstracts. 2013; Abstract LBA-1.