A 28-year-old female with PIK3CA-related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as 3 small (<2 cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 (NF2) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA c.2740G>A (p.Gly914Arg) mutation, conf...

OBJECTIVE Neurofibromatosis Type 2 (NF2) patients have multiple central nervous system tumors and, specifically, bilateral vestibular schwannomas (VSs) causing bilateral deafness. If the cochlear nerve is not preserved during tumor removal, the only hearing rehabilitation in these patients could be via an auditory brainstem implant (ABI). STUDY DESIGN Retrospective case study and literature r...

The current study reports the case of a 15-year-old male who presented with hearing loss due to a small left-sided vestibular schwannoma (VS) not associated with neurofibromatosis type 2 (NF2), which had been apparent for six months. Magnetic resonance imaging with gadolinium diethylenetriamine penta-acetic acid revealed a mass, 10 mm in diameter, located in the left inner auditory canal. The p...

Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningio...

Schwannomatosis is a term used to describe patients with multiple nonvestibular schwannomas with no other stigmata of neurofibromatosis type-2 (NF2). Neuroblastoma-like schwannoma is a rare subtype of schwannoma, with histological features resembling a neuroblastoma. This case is probabaly the second case of very uncommon neuroblastoma-like schwannoma, in a patient of schwannomatosis.

BACKGROUND Neurofibromatosis 1 (NF1) is a common, autosomal dominant, neurocutaneous disease that is clinically and genetically distinct from the rare condition neurofibromatosis 2 (NF2). Neurofibromatous neuropathy has been regarded as a common feature of NF2, but is an unusual and unexplained complication of NF1. The clinical and histological features of the NF1 neuropathy are distinct from t...

Mutations at splice sites or surrounding sequences have been reported to cause aberrant splicing. However, splicing errors can also occur without sequence alterations. We investigated three tumor suppressor genes for aberrant splicing in tumors. At a low frequency per exon it was found in five of seven of the investigated in-frame exons of the neurofibromatosis type 1 (NF1) gene, in two of thre...

Meningiomas are the most common primary intracranial adult tumor. All Neurofibromatosis 2 (NF2)-associated meningiomas and ~60% of sporadic meningiomas show loss of NF2 tumor suppressor protein. There are no effective medical therapies for progressive and recurrent meningiomas. Our previous work demonstrated aberrant activation of mTORC1 signaling that led to ongoing clinical trials with rapamy...

Neurofibromatosis 2 (NF2) is a severe autosomal dominant disorder that predisposes to multiple tumours of the nervous system. About half of all patients are founders with clinically unaffected parents. The purpose of the present study was to examine the extent to which mosaicism is present in NF2 founders. A total of 233 NF2 founders with bilateral vestibular schwannomas (BVS) were screened by ...

INTRODUCTION Neurofibromatosis type 2 (NF2) is mainly associated with central nervous system (CNS) tumors. Peripheral nerve involvement is described in symptomatic patients, but evidence of subclinical peripheral nerve involvement is scarce. METHODS We conducted a cross-sectional pilot study in 2 asymptomatic and 3 minimally symptomatic patients with NF2 to detect subclinical peripheral nerve...