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Abstract

NEUROFIBROMATOSIS TYPE-2; A PATHOLOGICAL MECHANISM

Ankit Verma* and Prerna Jaiswal

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Abstract

Neurofibromatosis type 2 is an autosomal dominant multiple neoplasia syndrome. NF-2 disorder is developed mainly due to mutation in NF-2 tumor suppressor gene which is located on chromosome 22q12. Merlin, a type of protein is found to be the suppressor of tumor and after mutation in NF2 gene, Altered protein does not suppress the tumor activity and various types of complication like neurological complication which is associated with vestibular schwannomas, peripheral neuropathy, meningiomas, spinal cord ependymomas and opthalmological complication like cataract, epiretinal membrane and retinal hamartomas are generally seen. The multiple, progressive, and protean features associated with neurofibromatosis type 2 present substantial management challenges. Patients should be managed in specialty centres with skilled multi disciplinary team, consisting of a neurosurgeon, neurologist, geneticist, ophthalmologist, pathologist, radiologist, audiologist, and experienced nursing staff. In this review history of neurofibromatosis, pathogenesis of neurofibromatosis, structure of merlin protein, epidemiology, diagnosis and treatment of neurofibromatosis is reviewed.

Keywords: Merlin protein, Neurofibromatosis, Pathogenesis, Vestibular Schwannomas.


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