NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Disease: Acoustic Neuroma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. 12011146 2002
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The neurofibromatosis 2 gene, which encodes the tumor suppressor protein merlin, is frequently mutated in vestibular schwannomas (VS). 18199958 2008
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The clinical characteristics of vestibular schwannomas and neurofibromatosis type 2 (NF2) syndromes have both been related to alterations in the NF2 gene. 18839347 2009
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE This study shows that a significant proportion of sporadic VS (>40%) have unmethylated wild-type NF2 genes. 20831745 2010
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The purposes of this investigation are: 1. to determine what proportion of vestibular schwannomas from patients with spontaneous unilateral and familial bilateral schwannomas have mutations present within the NF2 gene; 2. to determine whether specific types of mutations are associated with a specific clinical manifestation of this disease; and 3. to further define the relationship between newly discovered mutations within the NF2 tumor-suppressor gene and possible clinical applications of this knowledge to advance diagnosis and treatment of patients with NF2 and spontaneous vestibular schwannomas. 9473065 1998
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The great majority of sporadic vestibular schwannomas (VSs) are due to the mutations of the NF2 gene encoding merlin. 30274821 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE Immunohistochemical studies were performed to detect the protein product of the NF2 gene, merlin, in the four irradiated VS. NF2 staining was not observed. 16436992 2006
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE We hypothesize that genomic variants including deletions, insertions, inversions, and tandem duplications beyond the changes in tumor suppressor NF2 gene affect gene expression of tumor-specific pathways in vestibular schwannomas (VS) patients with Neurofibromatosis type 2 (NF2), thus contributing to their clinical behavior. 30624408 2019
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE IHC and WB showed the expression of CPI-17 is upregulated in the sporadic VS. NF2 mutation and CPI-17 are positively correlated with merlin phosphorylation. 31789805 2020
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE Molecular genetic analysis detected a 1-base pair deletion at exon 10 of the neurofibromatosis type 2 (NF2) gene in the trigeminal schwannoma, but not in the acoustic schwannoma. 15639530 2005
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 AlteredExpression disease BEFREE Immunohistochemical staining showed that increased nuclear YAP expression in VSs was positively correlated with high Ki-67 index and low Merlin expression. 29902598 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The role of NF2 gene mutations and pathogenesis-related proteins in sporadic vestibular schwannomas in young individuals. 24619252 2014
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Blood samples from 125 unrelated families with classical type 2 neurofibromatosis (NF2) with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene. 9643284 1998
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Although mutational inactivation and allelic loss in the NF2 gene appear to be causal events in the majority of vestibular schwannomas, involvement of another potentially important mechanism, transcriptional inactivation, has not been investigated. 11380622 2001
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE In addition, the authors and others have reported that somatic NF2 gene mutations occur frequently in nonfamilial vestibular schwannoma. 8622160 1996
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Despite a strong association of schwannomin/merlin gene mutations with vestibular schwannoma formation, the regulatory mechanisms and biologic pathways involved are still largely unknown. 12646839 2003
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE In this review, the authors summarized what is known about the epidemiology of NF2 mutations and patients with VSs. 19943731 2011
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE We suggest that a lack of NF2 protein in VS and a lack of TSC1/TSC2 proteins in SGCT significantly influence this fundamental difference between the two tumor types by changing the dominant TAM type. 28283837 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 PosttranslationalModification disease BEFREE Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas. 22295085 2012
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease LHGDN What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? 18173316 2008
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE We suggest that lack of NF2 protein in VS and lack of TSC1/2 proteins in SGCT determine this fundamental difference between the two tumor types, by defining the predominant TAM type. 28265819 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Analysis of the NF2 gene transcript in 53 unrelated patients with meningiomas and vestibular schwannomas revealed mutations in 32% of the sporadic meningiomas (n = 44), in 50% of the sporadic vestibular schwannomas (n = 4), in 100% of the tumors found in NF2 patients (n = 2), and in one of three tumors from multiple-meningioma patients. 7911002 1994
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE Involvement of p21 (waf1) in merlin deficient sporadic vestibular schwannomas. 20600642 2010
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The exon 4 deletion represents the second most frequently reported mutation of the NF2 gene in VSs. 8557252 1996
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE All VS and many meningiomas result from loss of the neurofibromatosis type 2 (NF2) gene product merlin, with ensuing PAK hyperactivation and increased cell proliferation/survival. 27755359 2017