Disease: Neurilemmoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. 31425178 2019
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 AlteredExpression disease BEFREE These data, together with the expression of SMARCB1 protein in a proportion of cells from schwannomatosis-related schwannomas, suggest that these tumors develop through a mechanism that is distinct from that of rhabdoid tumors in which SMARCB1 protein is completely absent in tumor cells. 22949514 2012
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE Previously, we demonstrated that the SMARCB1 exon 2 missense mutation c.143 C > T segregates with the presence of meningiomas in five members of a large family with multiple meningiomas and schwannomas. 22038540 2012
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient. 18072270 2008
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE Germline SMARCB1 mutations predispose in schwannomatosis patients to the development of multiple benign schwannomas and, in some cases, meningiomas. 24525513 2014
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE SMARCB1 mutations predispose to rhabdoid tumors and schwannomas but the mechanisms underlying the tumor type specificity are unknown. 28824165 2017
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 AlteredExpression disease BEFREE The present data suggests that (a) mosaic loss of immunohistochemical INI1/SMARCB1 expression, despite the interlesional variability, is a reliable marker of schwannomatosis regardless of the involved gene and it might help in the differential diagnosis of schwannomatosis vs. solitary schwannomas and (b) INI1/SMARCB1 expression is not useful in the differential with mosaic NF2, since NF2-associated peripheral schwannomas show the same immunohistochemical pattern. 28365909 2017
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 19124645 2009
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1. 24362817 2014
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation. 26431068 2016
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 AlteredExpression disease BEFREE Immunohistochemical staining with a SMARCB1 antibody revealed a mosaic SMARCB1 expression pattern in the three benign schwannomas, but absence of expression in the malignant tumor cells of the pRCC1. 26799435 2016
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 Biomarker disease BEFREE These findings support the hypothesis that SMARCB1 is a tumor suppressor for schwannomas in the context of familial disease. 18647326 2008
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 Biomarker disease BEFREE SMARCB1 deficiency in tumors from the peripheral nervous system: a link between schwannomas and rhabdoid tumors? 22614000 2012
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE Among those with peripheral tumors, the median tumor number was 4 in the LZTR1 group (median total body tumor volume 30 cc) and 10 in the SMARCB1 group (median volume 85cc), (P=.2915 for tumor number and P = .2289 for volume). mutation was associated with an increased prevalence of spinal schwannomas (100% vs 41%, P = .0197). 29384852 2018
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE We therefore directly sequenced seven SMARCB1 exons (90% of the open reading frame) in search for mutations in 41 meningiomas and 23 schwannomas. 10208879 1999
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE By immunohistochemistry, both the epithelioid malignant peripheral nerve sheath tumor and the schwannomas showed a complete loss of the Smarcb1 protein. 22082606 2012
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 Biomarker disease BEFREE Although the exact oncogenetic mechanism in these schwannomas remains to be elucidated, our findings suggest that INI1 is the predisposing gene in familial schwannomatosis. 17357086 2007
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE Immunohistochemistry with a SMARCB1 antibody revealed a mosaic staining pattern in schwannomas of the patients with the c.30delC and c.34C>T mutations. 24740647 2014
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 AlteredExpression disease BEFREE A few schwannomas and malignant peripheral nerve sheath tumors showed mosaic or complete loss of SMARCB1 expression. 26520417 2016
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 Biomarker disease BEFREE However, SMARCB1-associated schwannomas follow a four-hit, three-step model, in which both alleles of SMARCB1 and NF2 genes are inactivated in the tumor, with one of the steps being always the loss of a big part of chromosome 22 involving both loci. 25739810 2015
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 CausalMutation disease CLINVAR
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE These results suggest that patients with schwannomas have a significant probability of carrying a SMARCB1 mutation. 21255467 2011
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE This finding demonstrates that a SMARCB1 mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) mutations may be at increased risk for tumors. 26364901 2015
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 GeneticVariation disease BEFREE We describe a patient with multiple schwannomas and mutation in the recently described INI1 gene, which also predisposes to the disease. 20854059 2011
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.200 Biomarker disease BEFREE Germline SMARCB1 mutations have recently been identified as a pathogenic cause of a subset of familial schwannomatosis cases, and SMARCB1 is a candidate gene for causation of both schwannomas and meningiomas. 20472658 2010