|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Thirty-one additional GISTs with no available information on NF1 gene status or with NF1 gene variants of uncertain pathogenic significance were also included in the analysis.
|
28862263 |
2018 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder characterized by a mutation of the neurofibromin 1 (NF1) gene, resulting in increased susceptibility for multiple tumors, namely, gastrointestinal stromal tumors (GISTs)-the most common types of mesenchymal neoplasms in the gastrointestinal tract.
|
30148007 |
2018 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
NF1 gene mutations are frequent in quadruple-negative GISTs and are often constitutional, indicating that a significant fraction of patients with apparently sporadic quadruple-negative GISTs are affected by unrecognized Neurofibromatosis Type 1 syndrome.
|
27390349 |
2017 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
BEFREE |
Furthermore, KIT/PDGFRA wt-GIST are observed in the context of hereditary syndromes, such as neurofibromatosis Type 1, in which the lack of neurofibromin 1 also leads to the activation of the RAS/RAF/MAP-kinase pathway.
|
25831232 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A hemizygous frameshift mutation (p.His2261Leufs*4), in the neurofibromin 1 (NF1) gene was identified in the patient's GIST; however, no germline NF1 mutation was found.
|
26555092 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
BEFREE |
It is now known that neurofibromatosis-1-associated GISTs are SDHB-positive, whereas Carney-Stratakis syndrome-associated GISTs are SDHB-deficient with underlying germline mutations in SDH subunits A-D.
|
24840526 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
For comparison, SDHB expression was also determined in KIT mutant and neurofibromatosis-1-associated GIST, and complex II activity was also measured in SDH-deficient paraganglioma and KIT mutant GIST; 4 of 34 patients (12%) with WT GIST without a personal or family history of paraganglioma had germline mutations in SDHB or SDHC.
|
21173220 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
AlteredExpression
|
group |
BEFREE |
We demonstrate that (i) the NF1-related GISTs do not have KIT or PDGFRA mutations, (ii) the molecular event underlying GIST development in this patient group is a somatic inactivation of the wild-type NF1 allele in the tumor and (iii) inactivation of neurofibromin is an alternate mechanism to (hyper) activate the MAP-kinase pathway, while the JAK-STAT3 and PI3K-AKT pathways are less activated in NF1-related GIST compared with sporadic GISTs.
|
16461335 |
2006 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In the present study, we used the polymerase chain reaction (PCR) and DNA sequencing analysis to characterize the NF1 gene in a 53-year-old Japanese patient with NF1 who suffered from neurofibroma, pheochromocytoma, and gastrointestinal stromal tumor (GIST).
|
16741618 |
2006 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Heterozygous NF1 gene mutations were detected in GISTs from the two NF1 patients from whom fresh tissues were available.
|
14694524 |
2004 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
|
|
|