|
Immune thrombocytopenic purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
At this point, considering the limited treatment options due to toxicity and/or teratogenesis of other drugs proven to be effective against ITP like azathioprine, rituximab, cyclophosphamide, etc. and the risk of bleeding symptoms, either from mother or fetus, we decided to begin treatment with Romiplostim (thrombopoietin receptor agonist).
|
31116059 |
2020 |
|
Immune thrombocytopenic purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Romiplostim (Nplate<sup>®</sup>), a thrombopoietin receptor agonist, is the first FDA-approved thrombopoiesis-stimulating protein for the treatment of low platelet (PLT) counts in adults with chronic immune thrombocytopenia.
|
31021662 |
2020 |
|
Immune thrombocytopenic purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Markers of endothelial cell activation and neutrophil extracellular traps are elevated in immune thrombocytopenia but are not enhanced by thrombopoietin receptor agonists.
|
31805421 |
2020 |
|
Immune thrombocytopenic purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Eltrombopag (ELT) is a thrombopoietin receptor activator that has shown efficacy in chronic immune thrombocytopenia.
|
31205222 |
2020 |
|
Primary Myelofibrosis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The discovery of mutations in JAK2, CALR, and MPL have uncovered activated JAK-STAT signaling as a primary driver of MF, supporting a rationale for JAK inhibition.
|
31511492 |
2019 |
|
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 |
|
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Calreticulin (CALR) mutation was identified as a recurrent mutation in about 60% to 88% of JAK2/MPL-negative PMF and ET.
|
31478923 |
2019 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Immune thrombocytopenia is associated with persistently deranged fibrosis-related seromarker profiles but low bone marrow fibrosis grades: A 2-year observational study on thrombopoietin receptor agonist treatment.
|
29293383 |
2019 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Only about 10% of patients with myelofibrosis harbor alterations in MPL gene.
|
31446640 |
2019 |
|
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In fact, exome sequencing revealed that most patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) lacking JAK2 or MPL mutations, harbor somatic insertion and/or deletion in exon 9 of CALR gene.
|
28340692 |
2019 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whether noncanonical and/or concomitant JAK2- and MPL-mutations exist in myelofibrosis (MF) regardless of phenotype-driver mutations is not yet elucidated.
|
31135094 |
2019 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin (CALR) exon 9 frameshift mutations have recently been identified in 30-40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) without JAK2 or MPL mutations.
|
30080988 |
2019 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The frequency of the MPL mutation was 0% in PV, from 0.9 to 12.5% in ET, and from 0 to 17.1% in PMF.
|
31208359 |
2019 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Only about 10% of patients with myelofibrosis harbor alterations in MPL gene.
|
31446640 |
2019 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Whether noncanonical and/or concomitant JAK2- and MPL-mutations exist in myelofibrosis (MF) regardless of phenotype-driver mutations is not yet elucidated.
|
31135094 |
2019 |
|
Myelofibrosis
|
0.900 |
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 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Immune thrombocytopenia is associated with persistently deranged fibrosis-related seromarker profiles but low bone marrow fibrosis grades: A 2-year observational study on thrombopoietin receptor agonist treatment.
|
29293383 |
2019 |
|
Myelofibrosis
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The discovery of mutations in JAK2, CALR, and MPL have uncovered activated JAK-STAT signaling as a primary driver of MF, supporting a rationale for JAK inhibition.
|
31511492 |
2019 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
The role of the thrombopoietin receptor MPL in myeloproliferative neoplasms: recent findings and potential therapeutic applications.
|
31092065 |
2019 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) share similar molecular characteristics in that they frequently harbor hotspot mutations in JAK2, CALR or MPL, leading to activated JAK/STAT signaling.
|
31071164 |
2019 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Myeloproliferative neoplasms (MPNs) are associated with somatic mutations of genes including JAK2, CALR, or MPL in hematopoietic stem cells.
|
31377025 |
2019 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
The introduction of next-generation sequencing has broadened the genetic landscape of myeloproliferative neoplasms (MPNs) beyond JAK2, MPL, and CALR.
|
30594750 |
2019 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Sequential genotyping for phenotype-driver mutations in JAK2 (exon 14), CALR (exon 9), and MPL (exon 10) is recommended in patients with myeloproliferative neoplasms.
|
31135094 |
2019 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Recent data demonstrated that the TPO receptor (MPL) is essential for the development of CALR mutant-driven Myeloproliferative Neoplasms (MPNs).
|
31332222 |
2019 |