Nye sygdomsmarkører ved de kroniske myeloproliferative neoplasier

Morten Orebo Holmström, Lukas Frans Ocias, Klaus Kallenbach, Lasse Kjær, Thomas Kielsgaard Kristensen, Niels Pallisgaard, Bodil Laub Petersen, Vibe Skov, Karin de Stricker, Thomas Stauffer Larsen, Hans Carl Hasselbalch


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.

Bidragets oversatte titelNew disease markers within the chronic myeloproliferative neoplasms
TidsskriftUgeskrift for Laeger
Udgave nummer19
StatusUdgivet - 4 maj 2015


  • Calreticulin/genetics
  • Humans
  • Mutation
  • Myeloproliferative Disorders/diagnosis
  • Polycythemia Vera/genetics
  • Primary Myelofibrosis/genetics
  • Receptors, Thrombopoietin/genetics
  • Thrombocytosis/genetics


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