Carriers of a ring chromosome 22 are mentally retarded and show variable facial dysmorphism. They may also present with features of neurofibromatosis type II (NF2) such as vestibular schwannomas and multiple meningiomas. In these cases, tumourigenesis has been suspected to be caused by the loss of both alleles of the NF2 gene, a tumour suppressor localized in 22q12.2. Here, we describe an 18-ye...

BACKGROUND Intramedullary ependymomas are rare and benign tumors in the adult. Little is known about their physiopathology, but the implication of the NF2 gene is suspected because of their presence in a third of patients with type 2 neurofibromatosis (NF2), a disorder caused by mutation of the NF2 gene. METHODS We conducted a clinical and genetic study of a family in which 5 of 9 members suf...

OBJECTIVES/HYPOTHESIS To describe the histopathologic findings in the temporal bone in patients with neurofibromatosis type 2 (NF2). The literature contains limited data on otopathology of NF2. STUDY DESIGN Basic science study. METHODS Twenty-six temporal bones from 16 patients with NF2 were examined by light microscopy. The diagnosis of NF2 was made on the basis of bilateral cochleovestibu...

Meningioma is the second most common adult central nervous system tumor. Mutations and/or deletions within the tumor suppressor gene neurofibromatosis type 2 (NF2) are associated with meningioma development and progression. We studied 29 meningioma samples by cytogenetic analysis and interphase fluorescence in situ hybridization (I-FISH) using a locus-specific probe for the NF2 gene region. We ...

Schwannomatosis is a form of Neurofibromatosis type 2 (NF2) characterized by multiple schwannomas without vestibular involvement, affecting the cranium, spine and periphery. Several recent genetic studies have implicated the SMARCB1/INI1 tumour suppressor gene in familial schwannomatosis. SMARCB1 is located centromeric to NF2 on 22q and loss of function of SMARCB1 is also a hallmark of malignan...

Neurofibromatosis type 2 (NF2) is a rare autosomaldominant disorder. It affects about 1 in 25 000 people. Approximately 50% of affected people inherit the disorder; in others the disorder is caused by a spontaneous genetic mutation of unknown cause. The hallmark finding in NF2 is the presence of bilateral vestibular schwannomas. Schwannomas may occur along any nerve in the body, including the s...

Our study presents two cases of neurofibromatosis 2 (NF2) that have been diagnosed at the Ear, Nose, and Throat Department of Hradec Králové (Czech Republic). The first case involved a young man with a history of sudden hearing loss accompanied by tinnitus on the left side. The diagnosis of NF2 was made, and an operation for left acoustic neuroma was performed. Looking toward the future, the ac...

A two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the causative mutation and, consequently, presymptomatic testing was based on linka...

INTRODUCTION  Few cases of cochlear implantation (CI) in neurofibromatosis type 2 (NF2) patients had been reported in the literature. The approaches described were translabyrinthine, retrosigmoid or middle cranial fossa. OBJECTIVES  To describe a case of a NF2- deafened-patient who underwent to vestibular schwannoma resection via RLA with cochlear nerve preservation and CI through the round w...

The neurofibromatosis Type 2 tumor suppressor gene is implicated in the hereditary tumor syndrome NF2, hallmarked by bilateral vestibular schwannomas, meningiomas, and ocular non-neoplastic features. The gene product has characteristics of a membrane cytoskeleton-linking protein but the mechanism of tumor suppression by the NF2 protein remains to be elucidated. The NF2 gene is widely expressed ...