|
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation.
|
25663181 |
2015 |
|
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
These findings support the hypothesis that mutations in SETBP1 causing SGS may have a gain-of-function or a dominant-negative effect, whereas haploinsufficiency or loss-of-function mutations in SETBP1 cause a milder phenotype.
|
21037274 |
2011 |
|
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia.
|
28346496 |
2017 |
|
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutation in SETBP1 in order to establish the clinical features and serial MRI findings associated with the syndrome.
|
26096993 |
2015 |
|
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
|
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases.
|
23832012 |
2013 |
|
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
In summary, this work unveils a SETBP1 function that directly affects gene transcription and clarifies the mechanism operating in myeloid malignancies and in the Schinzel-Giedion syndrome caused by SETBP1 mutations.
|
29875417 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
AlteredExpression
|
disease |
BEFREE |
In addition, we found that either deregulated expression of the endogenous PP2A inhibitors SET or CIP2A, overexpression of SETBP1, or downregulation of some PP2A subunits, might be contributing to PP2A inhibition in AML.
|
21233840 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
Biomarker
|
disease |
BEFREE |
In general, somatic SETBP1 mutations have a significant clinical impact on the outcome as poor prognostic factor, due to downstream HOXA-pathway as well as associated aggressive types of chromosomal defects (-7/del(7q) and i(17q)), which is consistent with wild-type SETBP1 activation in aggressive types of acute myeloid leukemia and leukemic evolution.
|
28447248 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that HDAC inhibitors will be promising therapeutic drugs for MDS and AML with ASXL1 and SETBP1 mutations.
|
30367089 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
AlteredExpression
|
disease |
BEFREE |
In summary, our data show a novel leukemogenic mechanism through SETBP1 overexpression; moreover, multivariate analysis confirms the negative prognostic impact of SETBP1 overexpression in AML, especially in elderly patients, where it could be used as a predictive factor in any future clinical trials with PP2A activators.
|
19965692 |
2010 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
Biomarker
|
disease |
BEFREE |
SETBP1-MT collaborated with ASXL1-MT in inducing acute myeloid leukemia in vivo.
|
25306901 |
2015 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
Biomarker
|
disease |
BEFREE |
Recent studies have identified recurrent mutations in SETBP1, the gene that encodes SET-binding protein 1, in several types of myeloid malignancies, including chronic myeloid and acute myeloid leukemias.
|
23892662 |
2013 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
In this study, we describe a PMF case evolved to AML with a t(12;18)(p13;q12) rearrangement showing the downregulation of the intronic miR_4319 and the overexpression of its host gene, SET binding protein (SETBP1).
|
22873195 |
2012 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
A total of 1.2% (3/249) of AML and 1.8% (2/114) of MDS patients were found with heterozygous SETBP1 mutations.
|
29549983 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.590 |
Biomarker
|
disease |
BEFREE |
We assessed the frequency and clinicopathologic significance of 19 genes currently identified as significantly mutated in myeloid neoplasms, RUNX1, ASXL1, TET2, CEBPA, IDH1, IDH2, DNMT3A, FLT3, NPM1, TP53, NRAS, EZH2, CBL, U2AF1, SF3B1, SRSF2, JAK2, CSF3R, and SETBP1, across 93 cases of acute myeloid leukemia (AML) using capture target enrichment and next-generation sequencing.
|
25412851 |
2015 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Despite the recent identification of recurrent SETBP1 mutations in atypical chronic myeloid leukemia (aCML), a complete description of the somatic lesions responsible for the onset of this disorder is still lacking.
|
25343957 |
2015 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies.
|
25553291 |
2015 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations in SETBP1, consistent with a recent report on atypical chronic myeloid leukemia (aCML).
|
23832012 |
2013 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
SETBP1 variants occur as somatic mutations in several hematological malignancies such as atypical chronic myeloid leukemia and as de novo germline mutations in the Schinzel-Giedion syndrome.
|
29875417 |
2018 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Blast content of the bone marrow revealed an inverse correlation with the mutation status of SETBP1 in aCML and TET2 in CMML, respectively.
|
30635983 |
2019 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing.
|
31692115 |
2020 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
In particular, there was a high frequency of SETBP1 mutation in aCML (19/60; 31.7%) and MDS/MPN unclassifiable (MDS/MPN, U; 20/240; 9.3%).
|
23628959 |
2013 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
Biomarker
|
disease |
BEFREE |
In summary, mutated SETBP1 represents a newly discovered oncogene present in aCML and closely related diseases.
|
23222956 |
2013 |
|
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
SETBP1 mutations may be associated with an adverse prognosis, so their detection would help in the diagnosis of aCML and the determination of a patient's prognosis.
|
26017341 |
2015 |