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Nye sygdomsmarkörer ved de kroniske myeloproliferative neoplasier
Engelsk titel: New disease markers within the chronic myeloproliferative neoplasms Läs online Författare: Holmström, Morten Orebo ; Ocias, Lukas Frans ; Kallenbach, Klaus ; Kjaer, Lasse ; Kielsgaard Kristensen, Thomas ; Pallisgaard, Niels ; Laub Petersen, Bodil ; Skov, Vibe ; de Stricker, Karin ; Stauffer Larsen, Thomas ; Hasselbalch, Hans Carl Språk: Dan Antal referenser: 30 Dokumenttyp: Översikt UI-nummer: 16037125

Tidskrift

Ugeskrift for Laeger 2015;177(26)2518-21 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

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.