NF2-Related Schwannomatosis (Formerly Neurofibromatosis Type 2)

Table of Contents

1. The Name Change: From NF2 to NF2-Related Schwannomatosis
2. Genetics: the NF2 Gene, Merlin, De Novo Variants and Mosaicism
3. How Common It Is: Prevalence and Birth Incidence
4. Diagnostic Criteria: the 2022 Revision and the Manchester Criteria
5. The Tumours: Vestibular Schwannomas, Meningiomas and Ependymomas
6. Eye Findings
7. Symptoms and Age at Onset
8. Management Options as Reported in the Research
9. Prognosis and Life Expectancy
10. History: From the 1822 Wishart Case to the 1987 Separation
11. Key Research Papers
12. Connections
13. Featured Videos

The Name Change: From NF2 to NF2-Related Schwannomatosis

NF2-related schwannomatosis (often shortened to NF2-SWN) is the current name for the condition long called neurofibromatosis type 2 (NF2). It is an inherited tumour-predisposition condition whose hallmark is a benign nerve-sheath tumour, a vestibular schwannoma, on the hearing-and-balance nerve on both sides of the head (PubMed PMID: 20301380).

In 2022 an international consensus group published updated diagnostic criteria and nomenclature for NF2 and schwannomatosis. The group used a Delphi process that began with global disease experts and then brought in clinicians from outside the neurofibromatosis field, patients, and patient-advocacy groups. Its stated aims were to emphasize the overlap between NF2 and the other schwannomatoses and to reduce misdiagnosis as neurofibromatosis type 1; in the revised nomenclature, the term "neurofibromatosis 2" was retired to improve diagnostic specificity (PubMed PMID: 35674741).

A 2025 history review explains the reasoning: the tumours that define neurofibromatosis type 1, neurofibromas, are not a feature of NF2-related schwannomatosis, yet the condition remained classified as a neurofibromatosis for decades. The review describes 2022 as the point at which the condition was "correctly delineated as a schwannomatosis" (PubMed PMID: 41160189). Older papers, guidelines and many patient resources still use "NF2" or "neurofibromatosis type 2", and the GeneReviews chapter now titled NF2-Related Schwannomatosis continues to use the abbreviation NF2 (PubMed PMID: 20301380).

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Genetics: the NF2 Gene, Merlin, De Novo Variants and Mosaicism

The condition is caused by pathogenic variants in the NF2 tumour-suppressor gene on chromosome 22q (PubMed PMID: 19476995). The gene was identified in 1993 by two groups working independently. One described a candidate gene on chromosome 22q12 that encodes a protein closely resembling a family of proteins thought to link the cytoskeleton to proteins in the cell membrane (PubMed PMID: 8453669); the other found germline mutations in people with NF2 and somatic mutations in NF2-related tumours in a gene whose product resembles proteins at the plasma-membrane and cytoskeleton interface (PubMed PMID: 8379998).

A 2009 review in The Lancet describes the gene as having 17 exons that encode a 69 kDa protein called merlin (moesin-ezrin-radixin-like protein), also known as schwannomin. Consistent with the two-hit model of tumour formation, a tumour starts when both copies of the gene are inactivated in a cell (PubMed PMID: 19476995).

Inheritance and de novo variants

The condition is inherited in an autosomal dominant manner. GeneReviews states that about 50% of people diagnosed have an affected parent and about 50% have the condition as the result of a de novo (new) NF2 variant. Each child of an affected person has up to a 50% chance of inheriting the variant: 50% when the parent carries a germline variant, and possibly less than 50% when the parent is mosaic (PubMed PMID: 20301380). A UK genetic-register study from the Manchester region estimated the proportion due to de novo mutation at 56% (PubMed PMID: 20082463), and the 2025 history review gives a more recent de novo estimate of 73% (PubMed PMID: 41160189).

Mosaicism

In mosaic NF2-related schwannomatosis the variant is not present at conception but arises during embryonic development, so only a portion of the body's cells carry it. GeneReviews states that as many as 25% to 50% of people with a de novo NF2 variant are mosaic for it (PubMed PMID: 20301380). The 2025 history review reports higher figures from recent work: blood testing finds a variant in about 95% of affected people in the generations after an index de novo case, but in as few as 37% of sporadic cases; of 1,055 de novo patients meeting the Manchester criteria, 36.7% had a non-mosaic heterozygous variant found in blood, and with tumour testing the current estimate of mosaicism in a de novo case is close to 60% (PubMed PMID: 41160189).

The same review reports that mosaic disease often shows asymmetry, with tumours mainly on one side or in one body segment, though it can also be indistinguishable from non-mosaic disease. It describes testing blood and, ideally, two or more tumours from distinct regions of the nervous system: a shared variant across separate tumours that is absent or at low level in blood confirms mosaic disease, which carries a lower risk of transmission to children than germline disease. Based on the most recent UK study, it reports that roughly 25% of people living with the condition had inherited it from a parent, 30% were de novo heterozygotes and 45% were mosaic (PubMed PMID: 41160189).

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How Common It Is: Prevalence and Birth Incidence

Estimates come largely from population studies in North-West England and Finland (PubMed PMID: 41160189):

• A 2005 study of every vestibular schwannoma diagnosed in a North-West England population of 4.1 million from 1990 to 1999 estimated a birth incidence of 1 in 25,000, and found that 7% of people with vestibular schwannoma had NF2 (PubMed PMID: 15699726).
• A 2010 UK family genetic-register study gave a best estimate of birth incidence of 1 in 33,000 and a disease prevalence of 1 in 56,161 (PubMed PMID: 20082463).
• The 2009 Lancet review cites a frequency of 1 in 25,000 live births and nearly 100% penetrance by 60 years of age (PubMed PMID: 19476995).
• The 2025 history review reports a Manchester-region diagnostic prevalence of 1 in 50,500 and a calculated birth prevalence of 1 in 27,956; a 2024 prevalence across England of at least 1 in 58,000; and a whole-population study in Finland that assessed birth prevalence at 1 in 39,000 in 2015. It concludes that global birth prevalence is likely to be around 1 in 25,000–30,000 (PubMed PMID: 41160189).

The gap between birth incidence and point prevalence has a reason: the review notes that many people do not develop features until their 30s or later and that, historically, many died young, so the number diagnosed at any one time was lower than the number born with the condition (PubMed PMID: 41160189).

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Diagnostic Criteria: the 2022 Revision and the Manchester Criteria

GeneReviews states that the diagnosis is established in a person with bilateral vestibular schwannomas, an identical NF2 pathogenic variant found in two or more anatomically distinct NF2-related tumours, or a combination of clinical and molecular findings that fulfil the consensus criteria (PubMed PMID: 20301380). The 2022 consensus criteria incorporate mosaic forms of the condition and use molecular data to help distinguish NF2-related schwannomatosis from other schwannomatoses (PubMed PMID: 35674741).

2022 international consensus criteria

As reproduced in the 2025 history review (PubMed PMID: 41160189), the revised criteria (PubMed PMID: 35674741) allow a diagnosis when a person has one of the following:

1. Bilateral vestibular schwannomas.
2. An identical NF2 pathogenic variant in at least two anatomically distinct NF2-related tumours (schwannoma, meningioma and/or ependymoma). If the variant allele fraction in unaffected tissue such as blood is clearly below 50%, the diagnosis is mosaic NF2-related schwannomatosis.
3. Either two major criteria, or one major and two minor criteria.

• Major criteria: unilateral vestibular schwannoma; a first-degree relative other than a sibling with NF2-related schwannomatosis; two or more meningiomas; an NF2 pathogenic variant in an unaffected tissue such as blood (mosaic if the variant allele fraction is clearly below 50%).
• Minor criteria that can be counted more than once: ependymoma, meningioma, schwannoma (if the major criterion is a unilateral vestibular schwannoma, at least one schwannoma must be dermal).
• Minor criteria counted only once: juvenile subcapsular or cortical cataract, retinal hamartoma, epiretinal membrane in a person under 40 years of age, meningioma.

The review notes that gliomas were dropped from the criteria because the spinal-cord tumours in this condition proved to be predominantly ependymomas, with no high-grade gliomas; that new ophthalmic features such as epiretinal membranes under age 40 were added; and that the consensus group rejected an age limit for bilateral vestibular schwannomas, even though bilateral tumours found alone after age 70 have a very low rate (about 6%) of detectable NF2 variants in blood. It also states that for people with a unilateral vestibular schwannoma and other non-intradermal schwannomas, variants in the related gene LZTR1 ideally need to be ruled out before the diagnosis is confirmed (PubMed PMID: 41160189).

The classic Manchester criteria

The 2025 review reports that the Manchester criteria expanded the earlier NIH criteria to include people without a family history who had multiple schwannomas or meningiomas but had not yet developed bilateral vestibular schwannomas (PubMed PMID: 41160189). As set out in the 2009 Lancet review (PubMed PMID: 19476995), a clinical diagnosis requires:

• Bilateral vestibular schwannomas (no further findings needed); or
• A family history of NF2 plus a unilateral vestibular schwannoma or any two NF2-associated lesions (meningioma, glioma, neurofibroma, schwannoma, cataract); or
• A unilateral vestibular schwannoma plus any two NF2-associated lesions (meningioma, glioma, neurofibroma, schwannoma, cataract); or
• Multiple meningiomas plus a unilateral vestibular schwannoma or any two other NF2-associated lesions (glioma, neurofibroma, schwannoma, cataract).

The Lancet review states that because more than half of patients have no family history and may present with features other than vestibular schwannoma, the Manchester criteria are more sensitive than the early diagnostic models while keeping high specificity (PubMed PMID: 19476995).

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The Tumours: Vestibular Schwannomas, Meningiomas and Ependymomas

The 2009 Lancet review summarizes how often each tumour type is found in people with NF2 (PubMed PMID: 19476995):

• Bilateral vestibular schwannomas: 90–95%. More than 99% of these tumours are benign, but they cause substantial illness because of where they sit. Their growth rates vary widely and slow with age, according to a meta-analysis cited in the review.
• Other cranial-nerve schwannomas: 24–51%.
• Intracranial meningiomas: 45–58%, often multiple and developing at a younger age than sporadic meningiomas; spinal meningiomas inside the dura are present in about 20%. Meningiomas are the second most common tumour in NF2, and up to 20% of children presenting with a meningioma have NF2.
• Spinal tumours overall: 63–90%. Ependymomas account for more than 75% of the intramedullary (inside the spinal cord) tumours; they are present in 18–53% of patients but cause symptoms in fewer than 20%.
• Skin tumours: 59–68%, usually schwannomas.

GeneReviews adds that affected people may also develop schwannomas of other cranial and peripheral nerves and, very rarely, low-grade astrocytomas (PubMed PMID: 20301380). The 2025 history review notes a muscle-wasting neuropathy, which can affect a single nerve (particularly the facial nerve) or be generalized (PubMed PMID: 41160189).

Malignant change appears to be rare without radiation. In a prospective UK database of 1,253 patients, there were no cases of spontaneous malignant peripheral nerve sheath tumour among 2,114 proven or presumed benign vestibular schwannomas; the two patients who developed one had previously undergone stereotactic radiosurgery (PubMed PMID: 28973692).

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Eye Findings

Eye changes are part of the diagnostic criteria and can be the earliest sign, particularly in children (PubMed PMID: 41160189).

• Cataracts: reported in 60–81% of patients in the Lancet review, which notes that only cataracts found before age 50 can be regarded as specific to NF2, typically posterior subcapsular, capsular or peripheral cortical lens opacities. Cataracts interfere with vision in 10–25% of patients (PubMed PMID: 19476995). The 2025 review describes them as most often juvenile posterior subcapsular opacities that uncommonly require surgery or affect vision, and notes that childhood cortical wedge opacities may be present from near birth (PubMed PMID: 41160189).
• Epiretinal membranes: found in up to 80% of people with severe NF2 but usually not the cause of lost visual acuity (PubMed PMID: 19476995).
• Retinal hamartomas: found in 6–22% of patients, most often in the macula, where they frequently reduce visual acuity (PubMed PMID: 19476995).
• Optic nerve sheath meningiomas: can cause visual loss in the first years of life, though they can also present later (PubMed PMID: 41160189).

A neuro-ophthalmology review lists juvenile cataract, epiretinal membrane, combined hamartoma of the retina and retinal pigment epithelium, optic disc glioma and optic nerve sheath meningioma as specific findings that may help an early diagnosis. It adds that intracranial tumours can produce other problems that affect vision, including optic atrophy after papilledema, compression of the visual pathways, keratopathy, palsies of the nerves that move the eyes, and amblyopia (PubMed PMID: 32796346). The 2025 history review notes that in people with severe disease, the combination of deafness and visual loss can lead to severe problems with communication (PubMed PMID: 41160189).

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Symptoms and Age at Onset

GeneReviews describes bilateral vestibular schwannomas with tinnitus, hearing loss and balance problems as the defining features. The average age of onset is 18 to 24 years, and almost all affected people develop bilateral vestibular schwannomas by age 30 (PubMed PMID: 20301380). The Lancet review describes the usual presentation as hearing loss from a vestibular schwannoma in young adulthood (age 20–30), often in one ear first, sometimes with tinnitus, dizziness and imbalance (PubMed PMID: 19476995).

A 1992 UK clinical study of 150 patients reported (PubMed PMID: 1484939):

• a mean age at onset of 21.57 years (in 110 patients), with no patients presenting after 55 years of age;
• deafness as the first symptom in 44% of the 100 patients the authors examined (one-sided in 35 of those 44), deafness with tinnitus in a further 10%, and muscle weakness or wasting in 12%;
• less common first symptoms of seizures (8%), vertigo (8%), numbness and tingling (2%) and blindness (1%);
• café-au-lait spots in 43%, though only one person had six; skin tumours in 68%; and a lens opacity or cataract in 38%.

Children

GeneReviews notes that because NF2 is considered an adult-onset disease, it may be under-recognized in children, in whom skin tumours and eye findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first signs. A mononeuropathy in childhood, often appearing as a persistent facial palsy or a hand or foot drop, is an increasingly recognized finding (PubMed PMID: 20301380). In a study of 22 children from four referral centres, the average age at first presentation was 48.1 months and at diagnosis 77.2 months; vision or eye complaints (41%) were the most common presenting problems, and meningiomas (32%) and eye abnormalities (23%) were the most frequent first NF2 features found (PubMed PMID: 31363058).

GeneReviews also notes that people with vestibular tumours can have insidious balance problems and disorientation under water, which can result in drowning (PubMed PMID: 20301380).

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Management Options as Reported in the Research

The Lancet review describes optimum treatment as multidisciplinary because of the complexities of managing multiple, progressive lesions (PubMed PMID: 19476995), and the 2025 history review notes that the cumulative toxicity of repeated surgery and stereotactic radiosurgery has driven research into drug treatments (PubMed PMID: 41160189).

Surveillance with MRI

For affected or at-risk people, GeneReviews lists annual neurological examination by a provider experienced in NF2; annual brain MRI beginning at about age 10 to 12 and continuing until at least the fourth decade of life; annual hearing evaluation including brainstem auditory evoked response (BAER) testing; and an annual complete eye examination (PubMed PMID: 20301380). The Lancet review reports that, in a retrospective analysis, hearing in an untreated ear is likely to remain stable for up to 2 years, although some patients develop rapid hearing loss unrelated to tumour size or growth rate (PubMed PMID: 19476995).

Surgery

GeneReviews states that treatment of vestibular schwannoma is primarily surgical (PubMed PMID: 20301380). The Lancet review reports that removal of small vestibular schwannomas (under 3 cm) can preserve serviceable hearing in 30–65% and normal facial-nerve function in 75–92% of patients, but that results for hearing and facial-nerve preservation in NF2 have generally been much poorer than those figures. It describes conventional strategies as typically conservative, with surgery for tumours of 2–3 cm reserved for when serviceable hearing is lost or rapid growth is seen, and notes that operative risks such as facial paralysis rise as tumours grow (PubMed PMID: 19476995).

Stereotactic radiosurgery and the radiation concern

GeneReviews describes stereotactic radiosurgery as a possible alternative to surgery, and lists radiation therapy of NF2-associated tumours, especially in childhood, as a circumstance in which malignancy risks are likely to be substantially higher (PubMed PMID: 20301380). The Lancet review reported local control in 74–100% of NF2 vestibular schwannomas treated this way (mean follow-up 54 months), with measurable hearing kept in 33–57% and normal facial-nerve function in 92–100%, and stated that longer follow-up showing an absence of radiation-induced malignancy was needed before radiosurgery could be validated as a primary option (PubMed PMID: 19476995).

Later data point in different directions. A UK database study found that the only two malignant peripheral nerve sheath tumours among its 1,253 patients occurred after radiosurgery (PubMed PMID: 28973692). A 2023 international case series of 267 NF2 patients (328 vestibular schwannomas) treated with single-session radiosurgery at 12 centres reported tumour control of 77% at 10 years and 52% at 15 years, serviceable hearing preservation of 64% at 5 years and 35% at 10 years, and no radiation-induced tumours or malignant transformation in that cohort (PubMed PMID: 36861994).

Bevacizumab

Bevacizumab is an antibody that blocks vascular endothelial growth factor (VEGF). Reported results include:

• 2009 case series (10 patients): VEGF was expressed in all NF2 vestibular schwannomas examined. After treatment, tumours shrank in 9 of 10 patients and 6 had an imaging response (at least a 20% volume reduction); of 7 patients eligible for a hearing response, 4 improved, 2 were stable and 1 worsened (PubMed PMID: 19587327).
• 2016 phase II trial (14 patients): at 7.5 mg/kg every 3 weeks for 46 weeks, a confirmed hearing response occurred in 5 of 14 (36%), no patient had hearing decline, and 6 of 14 target tumours (43%) showed a radiographic response. Three grade 3 adverse events (hypertension in two, immune thrombocytopenia in one) were possibly related to the drug (PubMed PMID: 26976425).
• 2019 phase II high-dose trial (22 patients): 9 of 22 (41%) had a hearing response at 6 months and 7 of 22 a radiographic response, all of them adults (none of the 7 children had tumour shrinkage). The authors concluded that high-dose treatment seems no more effective than standard dose (PubMed PMID: 31626572).

GeneReviews lists bevacizumab as a targeted therapy for rapidly growing vestibular schwannomas and notes some clinical benefit in some people with ependymoma (PubMed PMID: 20301380). The 2025 history review states that no drug has been approved by regulators specifically for NF2-driven tumours, so such agents are used off label, with endorsement by national health agencies in some countries (PubMed PMID: 41160189).

Hearing rehabilitation: cochlear and auditory brainstem implants

The Lancet review describes cochlear implants as an option for deaf patients whose cochlear nerve is anatomically and physiologically intact, and the auditory brainstem implant, which stimulates the cochlear nucleus in the brainstem, as an option when the nerve is compromised. Patients with brainstem implants may gain measurable help with environmental sounds and lip-reading, but only a small subset gain significant speech understanding (PubMed PMID: 19476995). A 2024 meta-analysis of 33 studies of auditory brainstem implants in NF2 reported pooled estimates of 58% for environmental-sound discrimination; for open-set speech discrimination, 30% with sound only, 46% with lip-reading only and 63% with sound plus lip-reading; and a pooled complication rate of 33% (PubMed PMID: 38427506).

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Prognosis and Life Expectancy

In the 1992 UK clinical study, the mean age at death in 40 cases was 36.25 years, and all but one death resulted from a complication of the condition (PubMed PMID: 1484939). The 2025 history review states that before 1990, survival averaged only about 15 years after clinical diagnosis, and that many people with severe disease did not survive beyond their twenties and thirties (PubMed PMID: 41160189).

Two UK registry studies identified predictors of mortality:

• 2002, 368 patients: the relative risk of death rose 1.13-fold for each year younger at diagnosis and was 2.51-fold higher in people with intracranial meningiomas; it was 0.34 in people treated at specialty centres compared with non-specialty centres. Only one death occurred among people with constitutional missense mutations (PubMed PMID: 12235555).
• 2015, 1,192 patients: 241 deaths during 10,995 patient-years of follow-up. Early age at diagnosis and intracranial meningiomas were linked to higher mortality; mosaic disease, splice-site mutations and missense mutations were linked to lower mortality than non-mosaic or truncating mutations; and patients diagnosed in more recent decades had lower mortality than those diagnosed earlier (PubMed PMID: 26275417).

The 2025 history review reports that survival has improved over the last 30 years but remained significantly reduced compared with the general population in 2012; that England designated four specialist treatment centres for all NF2 patients, commissioned in 2009, with further improvement in survival; and that loss of lower cranial nerve function can lead to aspiration pneumonia, a common final diagnosis. It suggests that bevacizumab may have contributed to recent survival gains in the UK, while noting this has not been directly assessed (PubMed PMID: 41160189).

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History: From the 1822 Wishart Case to the 1987 Separation

The 2025 history review traces the condition's description back nearly two centuries (PubMed PMID: 41160189):

• 1777: the Leiden anatomy professor Sandifort probably gave the first description of a vestibular schwannoma.
• 1822: the Edinburgh surgeon Wishart described a man with numerous tumours on nerves inside the skull, including what Wishart called bilateral seventh-nerve tumours; on review in 1937 these were relabelled as eighth-nerve tumours, now called vestibular schwannomas. This is probably the first description of the condition.
• 1882: von Recklinghausen delineated neurofibromatosis type 1, and reports of NF2 patients around the turn of the twentieth century were then grouped with it.
• 1917: a classification that placed bilateral acoustic-nerve tumours within von Recklinghausen disease kept the two conditions merged in the literature for much of the century, despite reports noting the lack of skin findings in families with bilateral tumours. A large, mildly affected family reported in 1930 later gave rise to the "Gardner type" label, in contrast to the severe "Wishart type".
• 1987: the NF1 gene was localized to chromosome 17q and the NF2 gene to 22q, and a National Institutes of Health consensus statement formally separated NF1 and NF2.
• 1993: the NF2 gene was cloned.
• 2022: the condition was renamed NF2-related schwannomatosis.

The NIH consensus conference statement on neurofibromatosis was published in Archives of Neurology in 1988 (PubMed PMID: 3128965), and the gene discoveries were reported in 1993 (PubMed PMID: 8453669) (PubMed PMID: 8379998). The 2022 consensus completed the renaming (PubMed PMID: 35674741).

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Key Research Papers

1. Evans DG. NF2-Related Schwannomatosis. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1998 Oct 14 [updated 2023 Apr 20]. — PubMed PMID: 20301380
2. Plotkin SR, Messiaen L, Legius E, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation. Genet Med. 2022;24(9):1967-1977. — PubMed PMID: 35674741
3. Evans DG, Blakeley JO, Plotkin SR. History and clinical epidemiology of NF2-related schwannomatosis. Fam Cancer. 2025;24(4):79. — PubMed PMID: 41160189
4. Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet. 2009;373(9679):1974-1986. — PubMed PMID: 19476995
5. Evans DG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84(304):603-618. — PubMed PMID: 1484939
6. Evans DG, Moran A, King A, et al. Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol. 2005;26(1):93-97. — PubMed PMID: 15699726
7. Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A(2):327-332. — PubMed PMID: 20082463
8. Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 1993;72(5):791-800. — PubMed PMID: 8453669
9. Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature. 1993;363(6429):515-521. — PubMed PMID: 8379998
10. National Institutes of Health Consensus Development Conference. Neurofibromatosis. Conference statement. Arch Neurol. 1988;45(5):575-578. — PubMed PMID: 3128965
11. Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd, et al. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med. 2009;361(4):358-367. — PubMed PMID: 19587327
12. Blakeley JO, Ye X, Duda DG, et al. Efficacy and biomarker study of bevacizumab for hearing loss resulting from neurofibromatosis type 2-associated vestibular schwannomas. J Clin Oncol. 2016;34(14):1669-1675. — PubMed PMID: 26976425
13. Plotkin SR, Duda DG, Muzikansky A, et al. Multicenter, prospective, phase II and biomarker study of high-dose bevacizumab as induction therapy in patients with neurofibromatosis type 2 and progressive vestibular schwannoma. J Clin Oncol. 2019;37(35):3446-3454. — PubMed PMID: 31626572
14. Bin-Alamer O, Faramand A, Alarifi NA, et al. Stereotactic radiosurgery for vestibular schwannoma in neurofibromatosis type 2: an international multicenter case series of response and malignant transformation risk. Neurosurgery. 2023;92(5):934-944. — PubMed PMID: 36861994
15. King AT, Rutherford SA, Hammerbeck-Ward C, et al. Malignant peripheral nerve sheath tumors are not a feature of neurofibromatosis type 2 in the unirradiated patient. Neurosurgery. 2018;83(1):38-42. — PubMed PMID: 28973692
16. Wang B, Yan M, Liu C, et al. Auditory brainstem implants for hearing rehabilitation in NF2-schwannomatosis: a systematic review and single-arm meta-analysis. NeuroRehabilitation. 2024;54(2):213-225. — PubMed PMID: 38427506
17. Baser ME, Friedman JM, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 2002;71(4):715-723. — PubMed PMID: 12235555
18. Hexter A, Jones A, Joe H, et al. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients. J Med Genet. 2015;52(10):699-705. — PubMed PMID: 26275417
19. Gaudioso C, Listernick R, Fisher MJ, et al. Neurofibromatosis 2 in children presenting during the first decade of life. Neurology. 2019;93(10):e964-e967. — PubMed PMID: 31363058
20. Landau K. The role of neuro-ophthalmologists in the care of patients with neurofibromatosis type 2. J Neuroophthalmol. 2020;40 Suppl 1:S51-S56. — PubMed PMID: 32796346

PubMed Topic Searches

1. PubMed: NF2-related schwannomatosis
2. PubMed: Neurofibromatosis type 2 bevacizumab
3. PubMed: Neurofibromatosis type 2 mosaicism
4. PubMed: Auditory brainstem implant in NF2
5. PubMed: Neurofibromatosis type 2 radiosurgery

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Connections

• Genetics
• Acoustic Neuroma (Vestibular Schwannoma)
• Neurofibromatosis Type 1
• Hearing Loss
• Tinnitus
• Hearing Aids
• Cataracts
• Brain Tumors
• Facial Palsy
• Peripheral Neuropathy
• Tuberous Sclerosis Complex
• Neurology

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