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Neurofibromatosis, type 2(NF2)

MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Synonyms: Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; Neurofibromatosis central type; Neurofibromatosis type II; NF 2; NF2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: BANF - Bilateral acoustic neurofibromatosis (92503002); Neurofibromatosis type 2 (92503002); Neurofibromatosis type 2 (92503002); Neurofibromatosis, type 2 (92503002); Bilateral acoustic neurofibromatosis (92503002); Familial vestibular schwannoma (700060008); Neurofibromatosis, central type (700060008); Bilateral acoustic neurofibromatosis (700060008); NF2 (700060008); Familial acoustic neuroma (700060008); Neurofibromatosis 2 (700060008); Familial vestibular schwannoma (92503002); NF2 (92503002); Neurofibromatosis, central type (92503002); Familial acoustic neuroma (92503002)
 
Gene (location): NF2 (22q12.2)
OMIM®: 101000
Orphanet: ORPHA637

Disease characteristics

Excerpted from the GeneReview: Neurofibromatosis 2
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop. [from GeneReviews]
Authors:
D Gareth Evans   view full author information

Additional descriptions

From OMIM
The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births (Asthagiri et al., 2009). NF2 has few of the hallmarks of the peripheral or type I form of neurofibromatosis (NF1; 162200), also known as von Recklinghausen disease. Asthagiri et al. (2009) provided a detailed review of neurofibromatosis type II.  http://www.omim.org/entry/101000
From GHR
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.  http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2

Clinical features

Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
Malignant Skin Neoplasm
MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. . Anyone can get skin cancer, but it is more common in people who . - Spend a lot of time in the sun or have been sunburned. - Have light-colored skin, hair and eyes. - Have a family member with skin cancer. - Are over age 50. You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.
Ependymoma
MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).
Glioma
MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
tumor of the membranes that cover and protect the brain and spinal cord
Bilateral vestibular Schwannoma
MedGen UID:
209678
Concept ID:
C1136042
Neoplastic Process
A bilateral vestibular Schwannoma (acoustic neurinoma).
Lisch nodules
MedGen UID:
395461
Concept ID:
C1860334
Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
Retinal hamartoma
MedGen UID:
354977
Concept ID:
C1863411
Neoplastic Process
A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
Unilateral vestibular Schwannoma
MedGen UID:
350232
Concept ID:
C1863653
Finding
A unilateral vestibular Schwannoma (acoustic neurinoma).
Occasional neurofibromas
MedGen UID:
816804
Concept ID:
C3810474
Finding
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Peripheral Schwannoma
MedGen UID:
869845
Concept ID:
C4024276
Neoplastic Process
The presence of a peripheral schwannoma.
Abnormality of the retinal vasculature
MedGen UID:
870311
Concept ID:
C4024753
Anatomical Abnormality
An arterial or venous retinal vascular anomaly.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Epiretinal membrane
MedGen UID:
87388
Concept ID:
C0339543
Acquired Abnormality
An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Lisch nodules
MedGen UID:
395461
Concept ID:
C1860334
Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
Juvenile posterior subcapsular lenticular opacities
MedGen UID:
354976
Concept ID:
C1863408
Finding
Juvenile cortical cataract
MedGen UID:
350168
Concept ID:
C1863409
Finding
Retinal hamartoma
MedGen UID:
354977
Concept ID:
C1863411
Neoplastic Process
A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
Abnormality of the retinal vasculature
MedGen UID:
870311
Concept ID:
C4024753
Anatomical Abnormality
An arterial or venous retinal vascular anomaly.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Dizziness
MedGen UID:
4360
Concept ID:
C0012833
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Finding
Tinnitus is often described as a ringing in the ears. It also can sound like roaring, clicking, hissing, or buzzing. It may be soft or loud, high pitched or low pitched. You might hear it in either one or both ears. Millions of Americans have tinnitus. People with severe tinnitus may have trouble hearing, working or even sleeping. Causes of tinnitus include. -Hearing loss in older people. -Exposure to loud noises. -Ear and sinus infections. -Heart or blood vessel problems. -Meniere's disease. -Brain tumors. -Hormonal changes in women. -Thyroid problems. -Certain medicines. Treatment depends on the cause. Treatments may include hearing aids, sound-masking devices, medicines, and ways to learn how to cope with the noise. NIH: National Institute on Deafness and Other Communication Disorders .
Bilateral vestibular Schwannoma
MedGen UID:
209678
Concept ID:
C1136042
Neoplastic Process
A bilateral vestibular Schwannoma (acoustic neurinoma).
Unilateral vestibular Schwannoma
MedGen UID:
350232
Concept ID:
C1863653
Finding
A unilateral vestibular Schwannoma (acoustic neurinoma).
Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Ependymoma
MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).
Glioma
MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol. Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers. Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear. NIH: National Institute of Neurological Disorders and Stroke.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
tumor of the membranes that cover and protect the brain and spinal cord
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. . There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include . - Numbness. - Pain. - Burning or tingling. - Muscle weakness. - Sensitivity to touch. Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). A subtype of autosomal dominant migraine with aura (MA), familial hemiplegic migraine (FHM; see 141500), is caused by mutation in the CACNA1A gene (601011) on chromosome 19p13 (FHM1; 141500), by mutation in the ATP1A2 gene (182340) on chromosome 1q21 (FHM2; 602481), or by mutation in the SCN1A gene (182389) on chromosome 2q24 (FHM3; 609634). Another locus for FHM has been mapped to chromosome 1q31 (FHM4; see 607516). There is evidence that a polymorphism in the estrogen receptor gene (ESR1; 133430.0005) and a polymorphism in the TNF gene (191160.0004) may confer susceptibility to migraine. A polymorphism in the endothelin receptor type A gene (EDNRA; 131243.0001) may confer resistance to migraine.
Raised intracranial pressure
MedGen UID:
56241
Concept ID:
C0151740
Disease or Syndrome
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Bilateral vestibular Schwannoma
MedGen UID:
209678
Concept ID:
C1136042
Neoplastic Process
A bilateral vestibular Schwannoma (acoustic neurinoma).
Unilateral vestibular Schwannoma
MedGen UID:
350232
Concept ID:
C1863653
Finding
A unilateral vestibular Schwannoma (acoustic neurinoma).
Occasional neurofibromas
MedGen UID:
816804
Concept ID:
C3810474
Finding
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Peripheral Schwannoma
MedGen UID:
869845
Concept ID:
C4024276
Neoplastic Process
The presence of a peripheral schwannoma.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Lisch nodules
MedGen UID:
395461
Concept ID:
C1860334
Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
Retinal hamartoma
MedGen UID:
354977
Concept ID:
C1863411
Neoplastic Process
A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
Malignant Skin Neoplasm
MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. . Anyone can get skin cancer, but it is more common in people who . - Spend a lot of time in the sun or have been sunburned. - Have light-colored skin, hair and eyes. - Have a family member with skin cancer. - Are over age 50. You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Occasional neurofibromas
MedGen UID:
816804
Concept ID:
C3810474
Finding
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Peripheral Schwannoma
MedGen UID:
869845
Concept ID:
C4024276
Neoplastic Process
The presence of a peripheral schwannoma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Neurofibromatosis, type 2 in Orphanet.

Professional guidelines

PubMed

ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article

Recent clinical studies

Etiology

Doherty J, Go JL, Linthicum FH Jr
Otol Neurotol 2014 Oct;35(9):1662-8. doi: 10.1097/MAO.0000000000000494. PMID: 25118583Free PMC Article
Vranceanu AM, Merker VL, Plotkin SR, Park ER
J Neurooncol 2014 Oct;120(1):103-9. Epub 2014 Jul 15 doi: 10.1007/s11060-014-1522-2. [Epub ahead of print] PMID: 25022450
Slusarz KM, Merker VL, Muzikansky A, Francis SA, Plotkin SR
Cancer Chemother Pharmacol 2014 Jun;73(6):1197-204. Epub 2014 Apr 8 doi: 10.1007/s00280-014-2456-2. [Epub ahead of print] PMID: 24710627
Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF
J Neurol 2014 May;261(5):963-9. Epub 2014 Mar 12 doi: 10.1007/s00415-014-7303-1. [Epub ahead of print] PMID: 24619350Free PMC Article
Mallory GW, Pollock BE, Foote RL, Carlson ML, Driscoll CL, Link MJ
Neurosurgery 2014 Mar;74(3):292-300; discussion 300-1. doi: 10.1227/NEU.0000000000000264. PMID: 24335819

Diagnosis

Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF
J Neurol 2014 May;261(5):963-9. Epub 2014 Mar 12 doi: 10.1007/s00415-014-7303-1. [Epub ahead of print] PMID: 24619350Free PMC Article
Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. PMID: 24249803Free PMC Article
Barrett VJ, Tan MH, Elston JS
J Neuroophthalmol 2012 Dec;32(4):329-31. doi: 10.1097/WNO.0b013e3182726b49. PMID: 23196945
Szudek J, Briggs R, Leung R
Curr Opin Otolaryngol Head Neck Surg 2012 Oct;20(5):347-52. doi: 10.1097/MOO.0b013e32835762a1. PMID: 22929112
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Therapy

Alanin MC, Klausen C, Caye-Thomasen P, Thomsen C, Fugleholm K, Poulsgaard L, Lassen U, Mau-Sorensen M, Hofland KF
Eur Arch Otorhinolaryngol 2015 Dec;272(12):3627-33. Epub 2014 Nov 25 doi: 10.1007/s00405-014-3398-3. [Epub ahead of print] PMID: 25421643
Vranceanu AM, Merker VL, Plotkin SR, Park ER
J Neurooncol 2014 Oct;120(1):103-9. Epub 2014 Jul 15 doi: 10.1007/s11060-014-1522-2. [Epub ahead of print] PMID: 25022450
Slusarz KM, Merker VL, Muzikansky A, Francis SA, Plotkin SR
Cancer Chemother Pharmacol 2014 Jun;73(6):1197-204. Epub 2014 Apr 8 doi: 10.1007/s00280-014-2456-2. [Epub ahead of print] PMID: 24710627
Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. PMID: 24249803Free PMC Article
Angelo LS, Wu JY, Meng F, Sun M, Kopetz S, McCutcheon IE, Slopis JM, Kurzrock R
Mol Cancer Ther 2011 Nov;10(11):2094-103. Epub 2011 Sep 8 doi: 10.1158/1535-7163.MCT-11-0243. [Epub ahead of print] PMID: 21903608

Prognosis

Vranceanu AM, Merker VL, Plotkin SR, Park ER
J Neurooncol 2014 Oct;120(1):103-9. Epub 2014 Jul 15 doi: 10.1007/s11060-014-1522-2. [Epub ahead of print] PMID: 25022450
Vranceanu AM, Merker VL, Park E, Plotkin SR
J Neurooncol 2013 Sep;114(3):257-62. Epub 2013 Jul 2 doi: 10.1007/s11060-013-1195-2. [Epub ahead of print] PMID: 23817811
Monteiro TA, Goffi-Gomez MV, Tsuji RK, Gomes MQ, Brito Neto RV, Bento RF
Braz J Otorhinolaryngol 2012 Oct;78(5):128-34. PMID: 23108832
Szudek J, Briggs R, Leung R
Curr Opin Otolaryngol Head Neck Surg 2012 Oct;20(5):347-52. doi: 10.1097/MOO.0b013e32835762a1. PMID: 22929112
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Clinical prediction guides

Doherty J, Go JL, Linthicum FH Jr
Otol Neurotol 2014 Oct;35(9):1662-8. doi: 10.1097/MAO.0000000000000494. PMID: 25118583Free PMC Article
Vranceanu AM, Merker VL, Plotkin SR, Park ER
J Neurooncol 2014 Oct;120(1):103-9. Epub 2014 Jul 15 doi: 10.1007/s11060-014-1522-2. [Epub ahead of print] PMID: 25022450
Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF
J Neurol 2014 May;261(5):963-9. Epub 2014 Mar 12 doi: 10.1007/s00415-014-7303-1. [Epub ahead of print] PMID: 24619350Free PMC Article
Hoa M, Wilkinson EP, Slattery WH 3rd
Ear Nose Throat J 2014 Feb;93(2):E20-2. PMID: 24526486
Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. PMID: 24249803Free PMC Article

Recent systematic reviews

Noij KS, Kozin ED, Sethi R, Shah PV, Kaplan AB, Herrmann B, Remenschneider A, Lee DJ
Otolaryngol Head Neck Surg 2015 Nov;153(5):739-50. Epub 2015 Jul 30 doi: 10.1177/0194599815596929. [Epub ahead of print] PMID: 26227469
Behr R, Colletti V, Matthies C, Morita A, Nakatomi H, Dominique L, Darrouzet V, Brill S, Shehata-Dieler W, Lorens A, Skarzynski H
Otol Neurotol 2014 Dec;35(10):1844-51. doi: 10.1097/MAO.0000000000000584. PMID: 25325841
Maniakas A, Saliba I
Otol Neurotol 2014 Jun;35(5):889-94. doi: 10.1097/MAO.0000000000000272. PMID: 24675066
Vranceanu AM, Merker VL, Park E, Plotkin SR
J Neurooncol 2013 Sep;114(3):257-62. Epub 2013 Jul 2 doi: 10.1007/s11060-013-1195-2. [Epub ahead of print] PMID: 23817811
Plotkin SR, Halpin C, McKenna MJ, Loeffler JS, Batchelor TT, Barker FG 2nd
Otol Neurotol 2010 Sep;31(7):1135-43. doi: 10.1097/MAO.0b013e3181eb328a. PMID: 20736812Free PMC Article

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