|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CTNNB1 mutations were observed in 117 of 138 (85%) of desmoids.
|
18832571 |
2008 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether this hypothesis could be extended to other Wnt-dependent tumor types, we searched for WT1 mutations and studied WT1 expression in beta-catenin mutant desmoid tumors.
|
15540161 |
2005 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor).
|
9736021 |
1998 |
|
Fibromatosis, Aggressive
|
0.700 |
Biomarker
|
disease |
BEFREE |
We performed LEF1 and β-catenin immunohistochemistry in DTF (n=26), superficial fibromatosis (n=19), sclerosing mesenteritis (n=12), gastrointestinal stromal tumor (n=17), and cutaneous scar (n=14) using tissue microarray and whole sections.
|
28027119 |
2018 |
|
Fibromatosis, Aggressive
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We explored the influence of both mutations and WT on structure stability and affinity of β-catenin for α-catenin and the pattern of gene expression that may influence DF behavior.
|
28627792 |
2017 |
|
Fibromatosis, Aggressive
|
0.700 |
Biomarker
|
disease |
BEFREE |
Is immunohistochemical staining for β-catenin the definitive pathological diagnostic tool for desmoid-type fibromatosis? A multi-institutional study.
|
30292627 |
2019 |
|
Fibromatosis, Aggressive
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemically, there was a statistically significant correlation between widespread nuclear expression of beta-catenin and overexpression of matrix metalloproteinase-7 (P < .01 in extra-abdominal desmoid, Fisher test).
|
18715618 |
2008 |
|
Fibromatosis, Aggressive
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Tcf-3 expression and beta-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour).
|
11437409 |
2001 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Desmoid-type fibromatosis is characterized by CTNNB1 exon 3 mutations, which result in aberrant nuclear β-catenin localization and dysregulated canonical Wnt signaling.
|
27259010 |
2016 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1).
|
29330550 |
2018 |
|
Fibromatosis, Aggressive
|
0.700 |
Biomarker
|
disease |
BEFREE |
Nuclear expression of non-phospho β-catenin might more appropriately reflect the biological behavior of DF, and immunohistochemical staining with non-phospho β-catenin could serve as a more useful diagnostic and prognostic tool of COX-2 inhibitor therapy for patients with DF.
|
28851389 |
2017 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Taken together, we propose that TGF-beta is a modulator of beta-Catenin levels in tumoral fibroblasts and non-tumoral fibroblasts, despite the oncogenic mutations already present in this gene in tumoral fibroblasts of desmoid tumors.
|
17601559 |
2007 |
|
Fibromatosis, Aggressive
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Fibromatosis, Aggressive
|
0.700 |
Biomarker
|
disease |
BEFREE |
Some recent work has focused on the role of beta-catenin in desmoid tumor biology.
|
19436199 |
2009 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FAP results from germline adenomatous polyposis coli (APC) gene mutations and desmoids arise following biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399).
|
15542524 |
2004 |
|
Fibromatosis, Aggressive
|
0.700 |
Biomarker
|
disease |
BEFREE |
For comparison, nuclear localization of β-catenin was more diffuse in desmoid fibromatosis, a tumor also associated with CTNNB1 mutation.
|
29795437 |
2018 |
|
Fibromatosis, Aggressive
|
0.700 |
Biomarker
|
disease |
BEFREE |
It also suggests the involvement of the beta-catenin pathway in the development of desmoid tumors in FAP.
|
10782927 |
2000 |
|
Fibromatosis, Aggressive
|
0.700 |
SomaticCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Diffuse moderate or strong nuclear staining for beta-catenin was found in all desmoid tumors, 4 of 5 benign SFTs, and 2 of 6 malignant SFTs.
|
17090192 |
2006 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Tumor specimens from 14 patients surgically treated for aggressive fibromatosis (6 familial adenomatous polyposis and 8 sporadic cases), analyzed for adenomatous polyposis coli (APC) and CTNNB1 (beta-catenin) mutations, were further investigated for beta-catenin, cyclooxygenase-2 (COX-2), platelet-derived growth factor (PDGF) receptor alpha (PDGFRA)/PDGF receptor beta (PDGFRB), their cognate ligands (PDGFA and PDGFB), and KIT using a comprehensive immunohistochemical, biochemical, molecular, and cytogenetic approach.
|
17785554 |
2007 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
CTNNB1 mutations were observed in 117 of 138 (85%) of desmoids.
|
18832571 |
2008 |
|
Fibromatosis, Aggressive
|
0.700 |
Biomarker
|
disease |
BEFREE |
β-Catenin, the genetic key player of desmoid tumors shows nuclear accumulation due to mutations that prevent its degradation leading to activation of Wnt signaling and myofibroblastic cell proliferation.
|
29705714 |
2018 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, our case is the 19th pancreatic DTF and the second case with confirmed beta-catenin gene mutation.
|
26907785 |
2016 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene.
|
10655994 |
1999 |
|
Fibromatosis, Aggressive
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three patients showed a CTNNB1 hotspot mutation (T41A, S45F, or S45N) in both the desmoid-type fibromatosis and the radiation-induced sarcoma.
|
26414222 |
2015 |