Nye sygdomsmarkører ved de kroniske myeloproliferative neoplasier

Translated title of the contribution: New disease markers within the chronic myeloproliferative neoplasms

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

Research output: Contribution to journalReviewpeer-review

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.

Translated title of the contributionNew disease markers within the chronic myeloproliferative neoplasms
Original languageDanish
JournalUgeskrift for Laeger
Volume177
Issue number19
ISSN0041-5782
Publication statusPublished - 4 May 2015
Externally publishedYes

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