title: [New disease markers within the chronic myeloproliferative neoplasms].
abstract: The chaperone and calcium storing protein calreticulin is coded by CALR, and newly identified mutations in CALR are found in respectively 49-70% and 56-88% of JAK2- and MPL-negative patients with essential thrombocytaemia (ET) and primary myelofibrosis (PMF). A total of 41 mutations have been identified, all located to exon 9 which codes the protein's C-terminal. CALR mutations are present only in myeloid malignancies and confer a more indolent disease than JAK2-mutated ET and PMF. CALR mutations as a diagnostic and prognostic tool are promising and the mutations are potential targets for immune therapy.
authors.forename: Morten Orebo
authors.initials: MO
authors.lastname: Holmström
authors.forename: Lukas Frans
authors.initials: LF
authors.lastname: Ocias
authors.forename: Klaus
authors.initials: K
authors.lastname: Kallenbach
authors.forename: Lasse
authors.initials: L
authors.lastname: Kjær
authors.forename: Thomas Kielsgaard
authors.initials: TK
authors.lastname: Kristensen
authors.forename: Niels
authors.initials: N
authors.lastname: Pallisgaard
authors.forename: Bodil Laub
authors.initials: BL
authors.lastname: Petersen
authors.forename: Vibe
authors.initials: V
authors.lastname: Skov
authors.forename: Karin
authors.initials: K
authors.lastname: de Stricker
authors.forename: Thomas Stauffer
authors.initials: TS
authors.lastname: Larsen
authors.affiliation: Hæmatologisk Afdeling, Roskilde Sygehus, Køgevej 7-13, 4000 Roskilde. hans.hasselbalch@dadlnet.dk.
authors.forename: Hans Carl
authors.initials: HC
authors.lastname: Hasselbalch
mesh_terms: D037282:Calreticulin / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D011087:Polycythemia Vera / Q000235:genetics; D055728:Primary Myelofibrosis / Q000235:genetics / Q000473:pathology; D053628:Receptors, Thrombopoietin / Q000235:genetics; D013922:Thrombocytosis / Q000235:genetics / Q000473:pathology
chemical_list: D037282:Calreticulin; D053628:Receptors, Thrombopoietin