|
rs767475870
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs77375493
|
|
|
0.050 |
GeneticVariation |
BEFREE |
JAK2 V617F-positive acute myeloid leukaemia (AML): a comparison between de novo AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the Bone Marrow Pathology Group.
|
29767839 |
2018 |
|
rs77375493
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Both secondary AML (sAML) from ET and AML with JAK2 V617F mutation have poor prognoses.
|
29979407 |
2018 |
|
rs77375493
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Three of the six patients harboring C-CBL mutations at sAML had additional gene mutations including JAK2(V617F), PTPN11, or N-RAS.
|
22131879 |
2011 |
|
rs77375493
|
|
|
0.050 |
GeneticVariation |
BEFREE |
TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%).
|
19474426 |
2009 |
|
rs77375493
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).
|
18030353 |
2007 |
|
rs373221034
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Peripheral blood sample was donated by a 61years old female patient diagnosed with acute myeloid leukemia secondary to a primary myelofibrosis harboring the 52-bp deletion in the CALR gene (c.1092_1143del, p.L367fs*46) and the R693X mutation in the ASXL1 gene (c.2077C>T, p.R693X).
|
29034885 |
2017 |
|
rs121912657
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that (i) in the choroid plexus carcinoma, the germline mutation was detected in a homozygous state due to copy-neutral LOH/uniparental disomy, (ii) in the secondary AML, a complex karyotype led to loss of the wild-type TP53 allele, (iii) in the Wilms tumor, the somatic mutation c.814G>A led to compound heterozygosity.
|
25787918 |
2015 |
|
rs1328906812
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The other five patients acquired C-CBL mutations (Y371S, F418S, L370_Y371 ins L, L399V, and C416W) during sAML evolution.
|
22131879 |
2011 |
|
rs756530482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient retained the identical C-CBL mutation (G415S) at sAML evolution and exhibited clonal expansion.
|
22131879 |
2011 |
|
rs267606705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In particular the detection and quantification of a copy-neutral loss of heterozygosity region located in chromosome 11q guided the search for point mutations in the CBL gene, thus allowing the escription of the novel missense mutation K382E and the demonstration of its selection during progression to secondary AML.
|
20674974 |
2010 |
|
rs121913616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
None of the secondary AML cases evolving from pre-existing PMF showed MPL(W515K/L) (n=4).
|
19194467 |
2009 |