TY - JOUR
T1 - Nye sygdomsmarkører ved de kroniske myeloproliferative neoplasier
AU - Holmström, Morten Orebo
AU - Ocias, Lukas Frans
AU - Kallenbach, Klaus
AU - Kjær, Lasse
AU - Kristensen, Thomas Kielsgaard
AU - Pallisgaard, Niels
AU - Petersen, Bodil Laub
AU - Skov, Vibe
AU - de Stricker, Karin
AU - Larsen, Thomas Stauffer
AU - Hasselbalch, Hans Carl
PY - 2015/5/4
Y1 - 2015/5/4
N2 - 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.
AB - 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.
KW - Calreticulin/genetics
KW - Humans
KW - Mutation
KW - Myeloproliferative Disorders/diagnosis
KW - Polycythemia Vera/genetics
KW - Primary Myelofibrosis/genetics
KW - Receptors, Thrombopoietin/genetics
KW - Thrombocytosis/genetics
M3 - Review
C2 - 25967091
SN - 0041-5782
VL - 177
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
IS - 19
ER -