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 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gene mutations in JAK2, MPL, or CALR were not observed; however, mutations in genes including SRSF2 and SF3B1 occurred in this twin pair with childhood PMF.
|
28185911 |
2017 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The myeloproliferative neoplasms polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) display distinct clinical and pathologic features but are characterized by mutations in JAK2, MPL, and CALR leading to activation of the JAK-STAT pathway.
|
28948454 |
2017 |
Primary Myelofibrosis
|
1.000 |
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 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human myeloproliferative leukemia (MPL) protein gene are known to cause congenital amegakaryocytic thrombocytopenia (CAMT).
|
27811851 |
2017 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms characterized by recurrent somatic mutations in JAK2, CALR, and MPL.
|
27727468 |
2016 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF).
|
27913528 |
2016 |
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
A thrombopoietin receptor antagonist is capable of depleting myelofibrosis hematopoietic stem and progenitor cells.
|
27114459 |
2016 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) represent typical myeloproliferative neoplasms (MPN), usually characterized by specific somatic driver mutations (JAK2 V617F, CALR and MPL).
|
27061303 |
2016 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Next to janus kinase 2 (JAK2) and myeloproliferative leukemia protein, calreticulin (CALR) is a recently discovered mutation present in > 20% of patients diagnosed with primary myelofibrosis (PMF).
|
26935576 |
2016 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively examined the clinical and biological characteristics of 13 patients with concomitant CLL and MPN--eight primary myelofibrosis (PMF), three essential thrombocytosis (ET), and two polycythemia vera (PV)--who presented to our institution between 1998 and 2014, and tested all patients for MPN-specific aberrations, such as JAK2, MPL and CALR mutations.
|
26402369 |
2016 |
Primary Myelofibrosis
|
1.000 |
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 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin/MPL (CALR) is the second most frequent mutation and occurs in half of JAK2 and MPL wild-type patients with ET and PMF.
|
27067982 |
2016 |
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 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required.
|
26919114 |
2016 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations.
|
26854587 |
2016 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
Primary Myelofibrosis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, and 3% in ET, and 60%, 25%, and 7% in PMF.
|
26182311 |
2015 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients.
|
25116092 |
2015 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations.
|
25746303 |
2015 |
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Somatic mutations in Calreticulin (CALR) have been recently discovered in JAK2/MPL unmutated patients with primary myelofibrosis (PMF) or essential thrombocythemia.
|
25959795 |
2015 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We show that this antibody specifically recognized patients harboring different types of CALR mutation with no staining in healthy controls and JAK2- or MPL-mutated ET and PMF.
|
24618731 |
2014 |
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons.
|
24402162 |
2014 |