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

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

Abstrakt

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 titel	New disease markers within the chronic myeloproliferative neoplasms
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	177
Udgave nummer	19
ISSN	0041-5782
Status	Udgivet - 4 maj 2015

Emneord

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

Citationsformater

@article{faa4e2ecb21245d08956cdc45ed08247,

title = "Nye sygdomsmark{\o}rer ved de kroniske myeloproliferative neoplasier",

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. ",

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

author = "Holmstr{\"o}m, {Morten Orebo} and Ocias, {Lukas Frans} and Klaus Kallenbach and Lasse Kj{\ae}r and Kristensen, {Thomas Kielsgaard} and Niels Pallisgaard and Petersen, {Bodil Laub} and Vibe Skov and {de Stricker}, Karin and Larsen, {Thomas Stauffer} and Hasselbalch, {Hans Carl}",

year = "2015",

month = may,

day = "4",

language = "Dansk",

volume = "177",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "19",

}

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

VL - 177

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 19

ER -

Nye sygdomsmarkører ved de kroniske myeloproliferative neoplasier

Abstrakt

Emneord

Fingeraftryk

Citationsformater