Disease: Primary Myelofibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease CTD_human
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CGI
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease HPO
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CLINVAR
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR, or MPL mutations; additional disease features include bone marrow stromal reaction including reticulin fibrosis, abnormal cytokine expression, anemia, hepatosplenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression, and shortened survival. 30039550 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML). 18464114 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated alleles in fibrotic than prefibrotic PMF (median, 78% MPL(W515L) alleles; p<0.05). 19616600 2009
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential thrombocythemia who lack the JAK2 V617F mutation. 23994117 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE A 65-year-old woman with MPL-mutated essential thrombocythemia and progression to myelofibrosis was noted upon routine pretransplant testing to have mixed field reactivity with anti-D and an historic discrepancy in RhD type. 28653329 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE A thrombopoietin receptor antagonist is capable of depleting myelofibrosis hematopoietic stem and progenitor cells. 27114459 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE A combination of qualitative and quantitative allele-specific polymerase chain reaction, fragment-sizing, high resolution melting and Sanger-sequencing was applied for the detection of three driver mutations (in Janus kinase 2, calreticulin and myeloproliferative leukemia virus oncogene genes) in 289 cases of essential thrombocythemia and 99 cases of primary myelofibrosis. 24895336 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE A number of phenotypic driver (JAK2, CALR, MPL) and additional subclonal mutations have been described in PMF, pointing to a complex genomic landscape. 26547506 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. 18669880 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF). 19274616 2010
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Activating point mutations in the MPL gene encoding the thrombopoietin receptor are found in 3%-10% of essential thrombocythemia (ET) and myelofibrosis patients. 28395806 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE An integral part of laboratory tests carried out in this disease group is detecting the presence of mutations in the Janus kinase 2 gene at position 617 (JAK2 V617F) and in the gene encoding for the receptor for thrombopoietin (myeloproliferative leukemia virus oncogene, MPL) found in approximately 60% of PMF patients. 29534592 2019
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN Anaemia characterises patients with myelofibrosis harbouring Mpl mutation. 17408465 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence. 31697803 2020
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE As a result, one previously unrecognized MPL mutation (12-bp in-frame insertion) was identified in one patient with ET in addition to an MPLW515K mutation identified in one PMF patient. 21555228 2011
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF. 18754026 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF. 18754026 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Besides the driver mutations in JAK2, MPL, and CALR genes, the deregulation of miRNA expression may also contribute to the pathogenesis of PMF. 30259659 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. 24402162 2014