Abstract
In this paper authors present two cases of multiple schwannomas without the features of neurofibromatosis (NF). The authors retrospectively reviewed the hospital charts, radiology films, operative notes and pathology slides of these two patients. There was no family history of neurofibromatosis. The two patients had contrast enhanced MRI, which was negative for vestibular schwannomas. Both underwent surgical excision of symptomatic lesions. Histopathology confirmed these lesions as schwannomas. Molecular genetic analysis in case 1 demonstrated two distinct mutations of the NF2 gene in two different schwannomas, with concomitant loss of heterozygosity in both tumours. In contrast peripheral blood lymphocytes did not reveal mutations of NF2. The authors recommend surgery for symptomatic lesions. Asymptomatic tumours can be monitored. Regular follow up is essential as they may develop fresh lesions at any time. The relevant literature is discussed.
MeSH terms
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Adult
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Back Pain / etiology
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Back Pain / pathology
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Back Pain / physiopathology
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Diagnosis, Differential
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Genetic Markers
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Humans
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Magnetic Resonance Imaging
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Male
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Neurilemmoma / diagnosis*
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Neurilemmoma / genetics
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Neurilemmoma / surgery
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Neurofibromatosis 2 / diagnosis
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Neurofibromatosis 2 / genetics
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Neurofibromin 2 / genetics
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Neurosurgical Procedures
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Polyradiculopathy / etiology*
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Polyradiculopathy / pathology
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Polyradiculopathy / physiopathology
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Retrospective Studies
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Spinal Canal / pathology
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Spinal Canal / physiopathology
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Spinal Canal / surgery
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Spinal Cord / pathology
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Spinal Cord / physiopathology
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Spinal Cord Compression / etiology*
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Spinal Cord Compression / pathology
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Spinal Cord Compression / physiopathology
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Spinal Cord Neoplasms / diagnosis*
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Spinal Cord Neoplasms / genetics
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Spinal Cord Neoplasms / surgery
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Spinal Nerve Roots / injuries
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Spinal Nerve Roots / pathology
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Spinal Nerve Roots / physiopathology
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Subarachnoid Space / pathology
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Subarachnoid Space / physiopathology
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Subarachnoid Space / surgery
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Treatment Outcome
Substances
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Genetic Markers
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Neurofibromin 2