|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Essential thrombocythemia with the Philadelphia chromosome and BCR-ABL gene rearrangement. An entity distinct from chronic myeloid leukemia and Philadelphia chromosome-negative essential thrombocythemia.
|
2065312 |
1991 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Essential thrombocythemia (ET) is a BCL-ABL1-negative myeloproliferative neoplasm.
|
28415571 |
2017 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Essential thrombocythemia with BCR/ABL rearrangement.
|
8689617 |
1996 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
BCR-ABL positive essential thrombocythaemia: a variant of chronic myelogerous leukaemia or a distinct clinical entity: a special case report.
|
11296785 |
2000 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among 84 consecutive patients with chronic phase Ph-positive chronic myeloid leukemia (CML) who were investigated for the hybrid BCR/ABL mRNA, in six cases (7%) the disease mimicked essential thrombocythemia (ET) at presentation, because of marked thrombocytosis (platelet counts ranging from 1003 x 10(9)/l to 2800 x 10(9)/l) and moderate leukocytosis (WBC counts from 10 x 10(9)/l to 19 x 10(9)/l).
|
8684009 |
1996 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As the second most common mutation in BCR/ABL-negative MPNs, CALR mutation has been included in the latest World Health Organization (WHO) classification criteria as one of the main diagnostic criteria for both essential thrombocythemia (ET) and PMF.
|
29560522 |
2018 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Chromosomal deletions of band 13q14 occur recurrently in BCR/ABL negative chronic myeloproliferative disorders (CMPD), including myelosclerosis with myeloid metaplasia (MMM), polycythemia vera (PV), essential thrombocythemia (ET), juvenile chronic myeloid leukemia (JCML), and the so-called BCR/ABL- chronic myeloid leukemia (CML).
|
8527391 |
1995 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia).
|
22847163 |
2012 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients.
|
28406068 |
2017 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Comparative genomic hybridization (CGH), using oligo arrays with either 44,000 or 105,000 oligonucleotides, was performed on granulocyte-derived DNA from 71 patients with BCR-ABL-negative classic myeloproliferative neoplasms (MPNs): 32 primary myelofibrosis (PMF), 26 polycythemia vera (PV) and 13 essential thrombocythemia (ET).
|
18937974 |
2009 |
|
Thrombocythemia, Essential
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Detection of bcr-abl gene expression at a low level in blood cells of some patients with essential thrombocythemia.
|
14966468 |
2004 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Detection of BCR-ABL1 is critical in the distinction of ET from CML.
|
26754830 |
2016 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic lesions such as JAK2 mutations and BCR-ABL translocation are often mutually exclusive in MPN patients and lead to essential thrombocythemia, polycythemia vera, or myelofibrosis or chronic myeloid leukemia, respectively.
|
28335073 |
2017 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hence, we examined a cohort of 123 myeloproliferative neoplasm (MPN) patients without BCR-ABL1 rearrangement and additional ET patients (n=96) for coexistence of JAK2 and CALR mutations.
|
27486987 |
2016 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
In BCR-ABL1-negative myeloproliferative neoplasms, myelofibrosis (MF) is either primary (PMF) or secondary (SMF) to polycythemia vera or essential thrombocythemia.
|
31340059 |
2019 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Most affected patients suffer from the classic BCR/ABL1-negative myeloproliferative disorders (MPD), especially polycythemia vera (74% of n = 506), but a subset of people with essential thrombocythemia (36% of n = 339) or myelofibrosis with myeloid metaplasia (44% of n = 127) bear the identical mutation, as do a few individuals with myelodysplastic syndromes or an atypical myeloid disorder (7% of n = 556).
|
16321848 |
2006 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Myelofibrosis (MF) is a BCR-ABL1-negative myeloproliferative neoplasm diagnosed de novo or developed from essential thrombocythemia (ET) or polycythemia vera (PV).
|
22793267 |
2013 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Myeloproliferative neoplasms (MPN) that do not contain the BCR-ABL1 mutation include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
|
22035746 |
2011 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results confirm the absence of BCR-ABL abnormalities in Ph-negative ET patients.
|
11342314 |
2000 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients presenting clinical features of PT expressing the Ph chromosome or the BCR/ABL fusion gene have been well documented but, to our knowledge, this is the first report of evolution from typical PT to chronic myeloid leukemia.
|
16682291 |
2006 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement.
|
23986553 |
2014 |
|
Thrombocythemia, Essential
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), entered the spotlight in 2005 when the unique somatic acquired JAK2 V617F mutation was described in >95% of PV and in 50% of ET and PMF patients.
|
18769448 |
2008 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
The BCR/ABL-negative myeloproliferative neoplasms (MPNs) of essential thrombocythemia, polycythemia vera, and primary myelofibrosis, over the natural course of their disease, have an increasing predisposition to transform to overt acute myeloid leukemia (AML)-most appropriately referred to as MPN-blast phase (MPN-BP).
|
22170483 |
2012 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF).
|
26933174 |
2016 |
|
Thrombocythemia, Essential
|
0.100 |
Biomarker
|
disease |
BEFREE |
The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET).
|
29134817 |
2017 |