CALR, calreticulin, 811

N. diseases: 487; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 AlteredExpression disease BEFREE "Driver" mutations in JAK2, MPL and indels in CALR underlie the vast majority of cases of PMF and post-ET MF; the remainder (≈ 10%) lack identifiable driver mutations, but other clonal markers are usually detectable. 31630335 2020
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Randomly microdissected TRAP<sup>+</sup> OCs from 16 MF patients harbored <i>JAK2</i> or calreticulin (<i>CALR</i>) mutations, confirming MF OCs are clonal. 30745304 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Frameshift mutations in the calreticulin (CALR) gene are present in 30% of essential thrombocythemia and myelofibrosis patients. 30846848 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Finally, we tested the combined effect of busulfan and veliparib on CD34<sup>+</sup> cells obtained from the bone marrow or peripheral blood of 5 patients with JAK2<sup>V617F</sup>-mutated and 2 patients with CALR-mutated MF. 30615982 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE ABSTRACT: Background The BCR-ABL-negative myeloproliferative neoplasms, i.e., polycythemia vera, essential thrombocythemia (ET), and myelofibrosis (MF), are characterized by mutations in JAK2, CALR, or MPL. 30889303 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE AML transformation occurred faster in SMF than in PMF and patients who transformed to AML were more SRSF2-mutated and less CALR-mutated at MF sampling. 31340059 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Effect of CALR and JAK2 mutations on the clinical and hematological phenotypes of the disease in patients with myelofibrosis - long-term experience from a single center. 29534592 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE We developed a time-dependent assay to mimic ruxolitinib withdrawal in primary JAK2<sup>V617F</sup> and CALR mutant myelofibrosis patient samples and observed notable activation of spontaneous STAT signaling in JAK2<sup>V617F</sup> samples after drug washout. 30498775 2018
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Key differences from the 2011 diagnostic recommendations included: lower threshold values for hemoglobin and hematocrit and bone marrow examination for diagnosis of polycythemia vera (PV), according to the revised WHO criteria; the search for complementary clonal markers, such as ASXL1, EZH2, IDH1/IDH2, and SRSF2 for the diagnosis of myelofibrosis (MF) in patients who test negative for JAK2V617, CALR or MPL driver mutations. 29515238 2018
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE One-hundred Mayo Clinic patients with high/intermediate-risk myelofibrosis (MF) received momelotinib (MMB; JAK1/2 inhibitor) between 2009 and 2010, as part of a phase 1/2 trial (NCT00935987); 73% harbored JAK2 mutations, 16% CALR, 7% MPL, 44% ASXL1, and 18% SRSF2. 29515114 2018
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage. 29282219 2018
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Collectively, our studies demonstrate that occasional patients with CALR mutation-positive ET or MF carry other MPN-initiating genetic mutations (including JAK2 V617F), acquire "secondary mutations" before or after the CALR mutation, or evolve over time to being CALR mutation-homozygous. 28168700 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 Biomarker disease BEFREE Several presentations focused on the role of calreticulin and other ER chaperones in a variety of disease states, including haemophilia, obesity, diabetes, Sjogren's syndrome, Chagas diseases, multiple sclerosis, amyotrophic lateral sclerosis, neurological malignancies (especially glioblastoma), haematological malignancies (especially essential thrombocythemia and myelofibrosis), lung adenocarcinoma, renal pathology with emphasis in fibrosis and drug toxicity. 29160038 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE We screened 136 patients with myelofibrosis and a median age of 58 years who underwent allogeneic stem cell transplantation (AHSCT) for molecular residual disease for JAKV617F (n=101), thrombopoietin receptor gene (MPL) (n=4) or calreticulin (CALR) (n=31) mutation in peripheral blood on day +100 and +180 after AHSCT. 28714945 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 Biomarker disease BEFREE Mutations in Janus Kinase-2 (JAK2), calreticulin (CALR) and myeloproliferative leukemia protein (MPL) genes have been recently associated to MF and they all activate the JAK/STAT signaling pathway. 29123956 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Type 1 CALR mutations were found to be more common in myelofibrosis, associated with a higher frequency and number of additional mutations and a higher mutant allelic burden as compared to type 2 CALR mutations. 28161773 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Mutations in CALR are frequently found in patients with myelofibrosis (MF) and essential thrombocythemia (ET) with nonmutated Janus kinase 2 (JAK2). 27013444 2016
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE In conclusion, the size of the mutated clone in chronic phase MPN is different according to genotype with CALR-mutated ET showing a pattern similar to that observed in MF. 27427771 2016
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE The objective of the current study was to examine the impact of CALR mutation variant stratified driver mutational status on overall (OS), myelofibrosis-free (MFFS), thrombosis-free, and leukemia-free survival (LFS) in ET; 495 patients (median age 58 years; 61% females) with ET were fully annotated for the their driver mutational status: 321 (65%) harbored JAK2, 109 (22%) CALR, and 12 (2%) MPL mutations and 11% were triple-negative. 26890983 2016
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Recently, novel calreticulin (CALR) mutations were discovered in Janus kinase 2 (JAK2) non-mutated myelofibrosis (PMF) and essential thrombocythemia (ET) cases, with a frequency of 60-80%. 27693531 2016
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE CALR variants that markedly impair the calcium binding activity of mutant calreticulin are mainly associated with a myelofibrosis phenotype. 26449662 2016
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Patients with CALR-mutated ET appear to be more likely to develop myelofibrosis compared with patients with wt CALRUpon completion of this activity you will be able to: describe morphologic features that are associated with CALR-mutated myeloproliferative neoplasms.examine cases of essential thrombocythemia and primary myelofibrosis and predict which cases are more likely to be CALR-mutated based on histopathologic features.initiate CALR mutation testing for cases likely to have mutations. 27124925 2016
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. 25870379 2015
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. 25934766 2015
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Calreticulin mutation burden--is it a stable clone in patients with essential thrombocythemia and myelofibrosis? 26460248 2015