2009
DOI: 10.1556/cemed.3.2009.28478
|View full text |Cite
|
Sign up to set email alerts
|

Gastrointestinal stromal tumours in patients with type 1 neurofibromatosis

Abstract: Abbreviations AKT = protein kinase B; GIST = gastrointestinal stromal tumour; PDGFRA = platelet-derived growth factor receptor alpha; ICC = intestinal cell of Cajal; JAK = Janus-activated kinase; MAPK = mitogen-activated protein kinase; mTOR = mammalian target of rapamycin; NF1 = neurofibromatosis 1; NF/GIST = neurofibromatosis-associated GIST; PI3K = phosphatidylinositol-3-kinase; STAT = signal transducer and activator of transcription Type 1 neurofibromatosis, also known as von Recklinghausen's disease, is o… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

0
6
0

Year Published

2011
2011
2020
2020

Publication Types

Select...
7

Relationship

0
7

Authors

Journals

citations
Cited by 11 publications
(6 citation statements)
references
References 40 publications
0
6
0
Order By: Relevance
“…In particular, in a set of 13 GIST tumour samples (9 mutant vs 4 WT GIST) 56 microRNAs differentially expressed at a 0.05 cut-off p value between WT and mutant samples were found46 By correlation with gene expression profiling data, hsa-let-7b and hsa-let-7c microRNAs were the most significantly differentially expressed microRNAs; they were less expressed in WT samples and were able to target the IGF1R receptor 49…”
Section: Non-syndromic Kit/pdgfra Wt Gistmentioning
confidence: 96%
See 1 more Smart Citation
“…In particular, in a set of 13 GIST tumour samples (9 mutant vs 4 WT GIST) 56 microRNAs differentially expressed at a 0.05 cut-off p value between WT and mutant samples were found46 By correlation with gene expression profiling data, hsa-let-7b and hsa-let-7c microRNAs were the most significantly differentially expressed microRNAs; they were less expressed in WT samples and were able to target the IGF1R receptor 49…”
Section: Non-syndromic Kit/pdgfra Wt Gistmentioning
confidence: 96%
“…NF1, also known as von Recklinghausen disease, is an inherited, autosomal dominant disease phenotypically characterised by multiple café au lait spots, Lisch nodules, freckling and development of neurofibromas and, in some cases, their malignant derivatives, including GIST 45 46. GIST in NF1 patients arise predominantly from the small intestine, are possibly multicentric and lack KIT and PDGFRA mutations 47.…”
Section: Syndromic Kit/pdgfra Wt Gistmentioning
confidence: 99%
“…Also, gastrointestinal stromal tumors (GISTs) arise in NF1 patients 150 times more frequently than in the general population 2. With an estimated birth incidence of 1:3000 in Western countries, NF1 is the most commonly inherited disease 1.…”
Section: Introductionmentioning
confidence: 99%
“…Neurofibromatosis-1 (NF1), also known as von Recklinghausen disease, is an inherited, autosomal dominant disease phenotypically characterized by multiple café au lait spots, Lisch nodules, freckling, and development of neurofibromas, and in some cases, their malignant derivatives 1 . Also, gastrointestinal stromal tumors (GISTs) arise in NF1 patients 150 times more frequently than in the general population 2 . With an estimated birth incidence of 1:3000 in Western countries, NF1 is the most commonly inherited disease 1 .…”
Section: Introductionmentioning
confidence: 99%
“…The subgroup of the remaining KIT/PDGFRA wild-type, but not SDH-deficient, GISTs have been further characterized: about 15% possess an activating mutation in BRAF or, more infrequently, a RAS gene 64 . Furthermore, wild-type GISTs may appear in the setting of syndromic neurofibromatosis type I (NF1) disease, in which there is a loss of function of the NF1 protein 65 . Together, GISTs with mutations in BRAF/RAS or NF1 are known as RAS pathway (RAS-P) mutant GISTs.…”
Section: Recent Advances: New Promising Drugsmentioning
confidence: 99%