A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas

Neary, Wanda; Newton, Valerie; Laoide-Kemp, Siobhán; Ramsden, R. T.; Griffith, Guy A.P.; Evans, D Gareth; Harris, Rodney; Strachan, Tom

doi:10.1017/s0022215100134486

Cited by 15 publications

(8 citation statements)

References 23 publications

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“…In an earlier study we selected 93 of 407 of these patients on geographical criteria for a detailed study of patients and families with a unilateral vestibular schwannoma. 7 Six patients were recruited from this retrospective series. The remainder of the series were recruited from patients meeting the inclusion criteria.…”

Section: Patientsmentioning

confidence: 99%

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

Mohyuddin

2002

Journal of Medical Genetics

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Section: Patientsmentioning

confidence: 99%

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

Mohyuddin

2002

Journal of Medical Genetics

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“…3 10 However, the clinical details of such patients have not been fully reported before now. Previously we reported a series of such patients with unilateral vestibular schwannomas and other features suggestive of NF2 11. The risk to a patient who presents with a sporadic unilateral vestibular schwannoma of developing further tumours is uncertain.…”

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confidence: 99%

Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma

Evans

Lye

Neary

et al. 1999

Journal of Neurology, Neurosurgery & Psychiatry

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Background-Some 4%-5% of those who develop vestibular schwannomas have neurofibromatosis type 2 (NF2). Although about 10% of these patients present initially with a unilateral vestibular schwannoma, the risk for a patient with a truly sporadic vestibular schwannoma developing contralateral disease is unknown. Methods-A United Kingdom survey of 296 patients with NF2 was reviewed for laterality of vestibular schwannoma at presentation and the presence of other NF2 related features. The time to presentation of bilateral disease was calculated for patients presenting with a unilateral tumour. Mutation analysis of the NF2 gene was carried out on all available cases presenting initially with unilateral disease. Results-Of 240 patients with NF2 with vestibular schwannomas, 45 (18%; 32 sporadic, 13 familial) had either a unilateral tumour or delay in detection between the first and contralateral tumours. Among those tested for NF2 mutations, eight of 27 and nine of 13 were identified among sporadic and familial cases respectively. Sporadic cases showed a high female to male ratio and 19 of 32 have not as yet developed a contralateral tumour (mean 4.1 years after diagnosis of the first). Thirteen of 32 sporadic patients developed a contralateral tumour (mean 6.5 years after the first tumour diagnosis, range 0-22 years) compared with 11 of 13 familial patients (mean delay 5 years, range 0-16 years). Seven of the 45 patients had neither a family history of NF2 nor evidence of related tumours at initial presentation (six before the age of 35 years). Conclusion-The risk of patients with sporadic unilateral vestibular schwannomata developing a contralateral tumour in the absence of family history or other features of NF2 is low, but those presenting with other neurogenic tumours in addition to vestibular schwannoma are at high risk of harbouring an NF2 mutation in at least a proportion of their somatic cells. (J Neurol Neurosurg Psychiatry 1999;66:764-767) Keywords: neurofibromatosis type 2; somatic mosaicism; mutation; vestibular schwannoma Type 2 neurofibromatosis (NF2) is an autosomal dominant inherited condition characterised by development of bilateral vestibular schwannomas, schwannomas of other cranial, spinal, and cutaneous nerves, and cranial and spinal meningiomas.1-3 The National Institutes of Health (NIH) defined diagnostic criteria for NF2 in 1987 4 and modified criteria to allow for sporadic cases have since been published. 2According to NIH criteria (table 1) a person with bilateral vestibular schwannomas is assumed to have NF2 and 50% of oVspring would be predicted to be aVected. As the isolation of the NF2 gene in 1993 5 6 mutation studies have included reports of germ line mutations.7-9 Detection rates using routine methodology have been disappointingly low even in classically aVected patients and cannot therefore be used as a means of excluding the condition.At presentation, 10%-20% of patients with NF2 have a unilateral vestibular schwannoma, although other features of the disorder may be identi...

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“…Vestibular schwannomas represent approximately 8% of any large neurosurgical series of intracranial tumours 2 and account for 80% of the tumours of the cerebellopontine angle 3 . In fewer than 5% of patients tumours are bilateral 4‐6 . The majority of vestibular schwannomas are sporadic and present in the fourth to sixth decades of life 4,7 .…”

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confidence: 99%

Is clinical growth index a reliable predictor of tumour growth in vestibular schwannomas?

et al. 2003

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We have assessed the clinical growth index as an indicator of tumour growth rate in 50 patients with a vestibular schwannoma. Clinical growth index was calculated by measuring the length of history and dividing it by the maximum tumour diameter. Total tumour volumes were also measured from all MRI examinations and an effective tumour volume doubling time was calculated. Radiological growth measurements demonstrated involution in 10/50 patients. The median volume doubling time was 1.65 years (range 20.9-46.3 months, skewness 1.72 years). The median clinical growth index was 0.030 cm per month (range 0-0.270 cm per month, skewness 2.398). There was no significant correlation between volume doubling time and clinical growth index. Identification of rapidly growing tumours with clinical growth index >0.025 cm/month had a positive predictive value of 61%, negative predictive value of 48%, false-positive rate of 30% and false-negative rate of 52%. In conclusion, we have shown that the growth rate of vestibular schwannoma is not related to the clinical growth index and we recommend that this measure should be abandoned in the clinical management of patients where conservative management regimes are being considered.

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A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas

Cited by 15 publications

References 23 publications

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma

Is clinical growth index a reliable predictor of tumour growth in vestibular schwannomas?

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