Familial Occurrence of Unilateral Vestibular Schwannoma

Bikhazi, Nadim B.; Slattery, William H.; Lalwani, Anil K.; Jackler, Robert K.; Bikhazi, Paul H.; Brackmann, Derald E.

doi:10.1097/00005537-199709000-00004

Cited by 9 publications

(18 citation statements)

References 14 publications

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“…VS may present clinically in one of two forms: sporadic unilateral or hereditary bilateral [10]. An increasing incidence was reported from Denmark for the time period 1977-1995 [11].…”

mentioning

confidence: 99%

Vestibular Schwannoma, Tinnitus and Cellular Telephones

Hardell

Mild

Sandström³

et al. 2003

Neuroepidemiology

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Cases with tinnitus after using analogue cellular telephones are presented. An increased odds ratio of 3.45, 95% confidence interval (CI) 1.77–6.76, was found for vestibular schwannoma (VS) associated with the use of analogue cell phones. During the time period 1960–1998, the age-standardized incidence of VS in Sweden significantly increased yearly by +2.53% (CI 1.71–3.35). A significant increase in the incidence of VS was only found for the latter of the two time periods 1960–1979 and 1980–1998. For all other brain tumors taken together, the incidence significantly increased yearly by +0.80% (CI 0.59–1.02) for the time period 1960–1998, although the increase was only significant for benign tumors other than VS during 1960–1979.

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“…VS may present clinically in one of two forms: sporadic unilateral or hereditary bilateral [10]. An increasing incidence was reported from Denmark for the time period 1977-1995 [11].…”

mentioning

confidence: 99%

Vestibular Schwannoma, Tinnitus and Cellular Telephones

Hardell

Mild

Sandström³

et al. 2003

Neuroepidemiology

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“…Rarely, schwannomatosis caused by pathogenic variants in the LZTR1 gene can cause isolated VS, or VS that can be misdiagnosed as NF2. A previous report in this journal over 20 years ago suggested that familial occurrence of unilateral VS occurred more frequently than by chance, and this might be due to germline variants in the NF2 gene . We are not aware of any reports since to validate this theory.…”

Section: Introductionmentioning

confidence: 83%

“…Furthermore, to demonstrate the sensitivity of testing, both mutational events were present in nine tumors that were tested, completely ruling out an inherited variant, as these were not present in the germline. Familial occurrence has been previously suggested to occur more often than by chance . The previous report of nine families—four with first‐degree relatives affected—did not undertake molecular testing.…”

Section: Discussionmentioning

confidence: 99%

“…Familial occurrence has been previously suggested to occur more often than by chance. 6 The previous report of nine families-four with first-degree relatives affected-did not undertake molecular testing. It is not possible with data from the present report to substantiate whether familial unilateral VS occurs more frequently than by chance, as a large epidemiological study with recording of all close relatives would be required.…”

Section: Discussionmentioning

confidence: 99%

“…A previous report in this journal over 20 years ago suggested that familial occurrence of unilateral VS occurred more frequently than by chance, and this might be due to germline variants in the NF2 gene. 6 We are not aware of any reports since to validate this theory.…”

Section: Introductionmentioning

confidence: 89%

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Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene

et al. 2018

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Objectives/Hypothesis Unilateral vestibular schwannoma (VS) occurs with a lifetime risk of around 1 in 1,000 and is due to inactivation of the NF2 gene, either somatically or from a constitutional mutation. It has been postulated that familial occurrence of unilateral VS occurs more frequently than by chance, but no causal mechanism has been confirmed. Study Design Retrospective database analysis. Methods The likelihood of chance occurrence of unilateral VS, or occurring in the context of neurofibromatosis type 2 (NF2), was assessed using national UK audit data and data from the national NF2 database. Families with familial unilateral VS (occurrence in first‐ and second‐degree relatives) were assessed for constitutional NF2 and LZTR1 genetic variants, and where possible the tumor was also analyzed. Results Approximately 1,000 cases of unilateral VS occurred annually in the United Kingdom between 2013 and 2016. Of these, 2.5 may be expected to have a first‐degree relative who had previously developed a unilateral VS. The likelihood of this occurring in NF2 was considered to be as low as 0.05 annually. None of 28 families with familial unilateral VS had a constitutional NF2 intragenic variant, and in nine cases where the VS was analyzed, both mutational events in NF2 were identified and excluded from the germline. Only three variants of uncertain significance were found in LZTR1 . Conclusions Familial occurrence of unilateral VS is very unlikely to be due to a constitutional NF2 or definitely pathogenic LZTR1 variant. The occurrence of unilateral VS in two or more first‐degree relatives is likely due to chance. This phenomenon may well increase in clinical practice with increasing use of cranial magnetic resonance imaging in older patients. Level of Evidence 2b Laryngoscope , 129:967–973, 2019

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Vestibular schwannoma and pituitary adenoma in the same patient: coincidence or novel clinical association?

et al. 2016

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Over the years the authors have evaluated a number of patients with vestibular schwannomas (VS) who have also been diagnosed with a pituitary adenoma (PA). No associations between these tumors have been established to date. The objective of the current study is to investigate the epidemiological association between VS and PA via a population-based study and to supplement these data with a retrospective case series of 12 patients who were evaluated at the authors' center over the past 15 years. An analysis of the Surveillance, Epidemiology, and End Results database including all patients identified with a diagnosis of VS and/or PA was performed. A comparison between the observed and expected annual incidence was calculated and population differences between those with VS + PA were compared with single tumor populations. 9888 patients with VS and 26,577 patients with PA were identified among 822.9 million person-years. Within these populations, 31 patients were diagnosed with both tumor types. Overall, 1 in every 319 patients with VS was also diagnosed with a PA. The average annual incidence for VS was 1.2 per 100,000 persons per year while the average PA rate was 3.2 per 100,000 persons per year. The observed rate of co-incident VS and PA was greater than what is expected by chance alone assuming independence. The cohort of patients with coexisting VS and PA were older and more commonly male compared to VS-only or PA-only groups. These data strongly suggest that a common environmental or genetic predisposition exists for VS and PA development. Further study of this population may help elucidate the cause of tumorigenesis in a subset of patients with seemingly sporadic tumors.

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Familial Occurrence of Unilateral Vestibular Schwannoma

Cited by 9 publications

References 14 publications

Vestibular Schwannoma, Tinnitus and Cellular Telephones

Vestibular Schwannoma, Tinnitus and Cellular Telephones

Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene

Vestibular schwannoma and pituitary adenoma in the same patient: coincidence or novel clinical association?

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