Materiały źródłowe

• #1 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. […] When using established clinical diagnostic criteria and based on mutations in the NF2 gene assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism. There have only been two epidemiological studies of NF2 one in North West England, and one in Finland. The incidence of NF2 was initially reported as 1:3340,000 individuals in a 4 million population in England. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland.

• #2 Neurofibromatosis type 2 (NF2): A clinical and molecular review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2708144/

  When using established clinical diagnostic criteria and based on mutations in the NF2 gene assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism. There have only been two epidemiological studies of NF2 one in North West England, and one in Finland. The incidence of NF2 was initially reported as 1:3340,000 individuals in a 4 million population in England. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland.

• #3 Neurofibromatosis Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470350/

  The incidence of NF2 is about 1 in 25,000 to 40,000 individuals. […] For tumor surveillance, an annual brain MRI is recommended. If no brain tumor is seen on the initial imaging, then MRI can be done every 2 years. If the tumor is seen, an MRI should be done twice in the first year, followed by an annual follow-up.

• #4 Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02911-2

  From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final review. […] There were only 2 studies on NF2 prevalence, so data were not pooled. […] The estimated prevalence of NF2 is much lower, approximately 1 in 60,000. […] The 2 studies reporting NF2 prevalence had crude estimates of 1 in 216,110 and 1 in 56,161; we did not pool these estimates. […] We included all 4 studies reporting NF2 birth incidence in the meta-analysis, for a total of 56 cases in 2,724,391 births. […] Our pooled estimate of birth incidence is 1 in 50,000, with relatively low heterogeneity among studies. […] Given the wide discrepancy in NF2 prevalence rates between the two included studies, there is need for further research into the epidemiology of NF2, especially in countries outside of Europe.

• #5 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1178283-overview

  The estimated incidence of neurofibromatosis type 2 (NF2) is 1 in 37,000 per year, with about half of affected individuals representing first cases in the family as a result of new, dominant mutations. […] Although the genetic change causing NF2 is present at conception, the clinical manifestations occur over many years. The typical age of onset of symptoms is in the late teens to early 20s, but the age range covers the entire life span, to include congenital forms in infancy through the elderly. […] Some evidence indicates that age of onset of clinical symptoms is lower in maternally transmitted NF2. While NF2 is quite variable in severity from person to person, family studies have shown some intrafamilial consistency in age of onset. Somatic mosaicism for the NF2 mutation in sporadic cases may also complicate the clinical picture, resulting in underdiagnosis or late diagnosis.

• #6 Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas | Scientific Reports

  https://www.nature.com/articles/s41598-020-69074-z

  Neurofibromatosis type 2 (NF2) is a rare hereditary neoplasia syndrome, with an estimated incidence of 1:25,0001:33,0001,2. […] It is estimated that 4558% of NF2 patients harbor intracranial meningiomas and 20% have spinal meningiomas5,6,7. […] The cumulative burden of intracranial meningiomas in NF2 patients results in a 2.51-fold greater risk of mortality when compared to NF2 patients without intracranial meningiomas9. […] According to consensus recommendations for treatments in patients with NF2, radiation therapy (either stereotactic radiosurgery or intensity modulated radiation therapy) should be used with caution since secondary malignancies after radiosurgery have been reported11. […] This is highlighted by the observation that spontaneous nervous system malignancies are very rare in NF2, at a prevalence of 725 per 100,000 (95% CI 2531,197 per 100,000). However, after radiotherapy for benign tumors, the prevalence of nervous system malignancies in NF2 patients is substantially increased, at 4,717 per 100,000 (95% CI 6818,753 per 100,000)12.

• #7 Neurofibromatosis Type 2 | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688570/all/Neurofibromatosis_Type_2?q=Cataract

  Incidence: Birth incidence: 1/33,000 to 40,000 […] Prevalence: 1/60,000.

• #8 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. […] When using established clinical diagnostic criteria and based on mutations in the NF2 gene assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism. There have only been two epidemiological studies of NF2 one in North West England, and one in Finland. The incidence of NF2 was initially reported as 1:3340,000 individuals in a 4 million population in England. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland.

• #9 Orphanet: Full NF2-related schwannomatosis

  https://www.orpha.net/en/disease/detail/637

  Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. […] Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. […] NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Surgery remains the focus of current management although watchful waiting with careful surveillance and occasionally radiation treatment have a role.

• #10 Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02911-2

  From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final review. […] There were only 2 studies on NF2 prevalence, so data were not pooled. […] The estimated prevalence of NF2 is much lower, approximately 1 in 60,000. […] The 2 studies reporting NF2 prevalence had crude estimates of 1 in 216,110 and 1 in 56,161; we did not pool these estimates. […] We included all 4 studies reporting NF2 birth incidence in the meta-analysis, for a total of 56 cases in 2,724,391 births. […] Our pooled estimate of birth incidence is 1 in 50,000, with relatively low heterogeneity among studies. […] Given the wide discrepancy in NF2 prevalence rates between the two included studies, there is need for further research into the epidemiology of NF2, especially in countries outside of Europe.

• #11 Neurofibromatosis type 2 | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/neurofibromatosis-type-2-3?embed_domain=hackmd.io%2525252F%25252540yIPUAFeCSL2JsU8smR5nJQ%2525252Fbnjhjgjghjghjghfavicon.icofavicon.ico&lang=us

  Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumors. […] The disease is rare with an estimated prevalence of 1:50,000. NF2 usually presents in young adults (age 18-24 years). […] Of patients with NF2, 50% have an affected parent (autosomal dominant inheritance) and 50% having a de novo mutation.

• #12 Neurofibromatosis type 2 (NF2): A clinical and molecular review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2708144/

  When using established clinical diagnostic criteria and based on mutations in the NF2 gene assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism. There have only been two epidemiological studies of NF2 one in North West England, and one in Finland. The incidence of NF2 was initially reported as 1:3340,000 individuals in a 4 million population in England. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland.

• #13 Neurofibromatosis type 2 – Louis Hofmeyr

  https://lmhofmeyr.co.za/conditions/conditions-we-specialise-in/acoustic-neuroma/neurofibromatosis-type-2/

  Neurofibromatosis type 2 (NF2) is a genetic disorder that causes tumours to form on the nerves of the brain and spinal cord. The incidence of NF2 varies between 1: 25 000 to 1: 44 000 people, occurring equally in males and females. All races are similarly affected. The condition usually becomes apparent during puberty and nearly always before the age of 30 years. […] Bilateral vestibular schwannoma occur in over 90% of patients. Patients with a positive family history and a single schwannoma or a combination of other tumours may still suffer from NF2.

• #14 Neurofibromatosis: Types and Treatment | Doctor

  https://patient.info/doctor/neurofibromatosis-pro

  Both type 1 and type 2 NF are inherited as autosomal dominant conditions but, for both types, there is no family history in about 50%, reflecting the incidence of new mutations. […] Neurofibromatosis type 2 makes up about 3% of all cases and has a prevalence of around 1 in 33,000 births. […] There is no gender or race predilection. Neurofibromatosis type 2 has variable presentations amongst different families. A more severe clinical presentation is associated with a frameshift or a nonsense mutation that results in a truncated protein.

• #15 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1178283-overview

  The estimated incidence of neurofibromatosis type 2 (NF2) is 1 in 37,000 per year, with about half of affected individuals representing first cases in the family as a result of new, dominant mutations. […] Although the genetic change causing NF2 is present at conception, the clinical manifestations occur over many years. The typical age of onset of symptoms is in the late teens to early 20s, but the age range covers the entire life span, to include congenital forms in infancy through the elderly. […] Some evidence indicates that age of onset of clinical symptoms is lower in maternally transmitted NF2. While NF2 is quite variable in severity from person to person, family studies have shown some intrafamilial consistency in age of onset. Somatic mosaicism for the NF2 mutation in sporadic cases may also complicate the clinical picture, resulting in underdiagnosis or late diagnosis.

• #16 Neurofibromatosis Type 2: Causes, Diagnosis, Treatment

  https://www.verywellhealth.com/neurofibromatosis-type-2-nf2-2860838

  NF2 is a relatively uncommon condition, affecting roughly one of every 40,000 people. The average age of onset is 18 to 24 years. Almost all people who are affected develop bilateral vestibular schwannomas by 30 years of age. […] The diagnosis of NF2 is based largely on a physical exam and MRI. Treatment may involve active surveillance if tumors are small and asymptomatic; larger tumors may require surgery or radiation.

• #17 NF2 – Children’s Tumour Foundation of Australia

  https://www.ctf.org.au/nf2-related-schwannomatosis

  NF2-related schwannomatosis (NF2), formerly called neurofibromatosis type 2, is the second most common type of NF and affects approximately 1 in every 25,000 people. […] The signs and symptoms of NF2 usually develop during late teens or early adulthood, although around 10% of people with NF2 may develop symptoms earlier. […] Each person’s condition will develop differently and may change quickly. Tumours can grow or remain stable (no growth) for extended periods of time, so regular surveillance and monitoring is highly recommended for managing NF2. […] Monitoring may consist of: Clinical examination, MRI scans, CT scans, PET scans, Hearing assessments, Vision testing. […] Because they are slow growing, immediate treatment may often not be required. Surveillance may occur over many years before any treatment is required.

• #18 Neurofibromatosis Type 2: Causes, Diagnosis, Treatment

  https://www.verywellhealth.com/neurofibromatosis-type-2-nf2-2860838

  NF2 is a relatively uncommon condition, affecting roughly one of every 40,000 people. The average age of onset is 18 to 24 years. Almost all people who are affected develop bilateral vestibular schwannomas by 30 years of age. […] The diagnosis of NF2 is based largely on a physical exam and MRI. Treatment may involve active surveillance if tumors are small and asymptomatic; larger tumors may require surgery or radiation.

• #19 Neurofibromatosis type II – Wikipedia

  https://en.wikipedia.org/wiki/Neurofibromatosis_type_II

  NF2 is an inheritable disorder with an autosomal dominant mode of transmission. […] Incidence of the condition is about 1 in 60,000. […] Diagnosis is most common in early adulthood (20-30 years); however, it can be diagnosed earlier. NF2 can be diagnosed due to the presence of a bilateral vestibular schwannoma, or an acoustic neuroma, which causes a hearing loss that may begin unilaterally. […] More than half of all patients diagnosed with NF2 do not have a family history of the condition.

• #20 Neurofibromatosis type 2: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/

  Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide. […] Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one altered copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new variants in the NF2 gene and occur in people with no history of the disorder in their family.

• #21 Neurofibromatosis Type 2 (NF2) | American Cancer Society

  https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/neurofibromatosis-type-2.html

  Neurofibromatosis type 2 (NF2) is rare and affects about 1 in 25,000 people worldwide. […] NF2 can be diagnosed by looking at symptoms, family history, imaging tests, and genetic testing. […] The presence of bilateral (both ears) vestibular schwannomas is the main sign of NF2. […] Approximately 50% of NF2 cases are inherited from a parent, while the other 50% of cases arise from spontaneous mutation in the NF2 gene.

• #22 Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] | Genetics in Medicine

  https://www.nature.com/articles/gim200988

  Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. […] In excess of 50% of patients represent new mutations and as many as one third are mosaic for the underlying disease causing mutation. […] NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. […] Surveillance: For affected or at-risk individuals, annual magnetic resonance imaging (MRI) beginning at the age of approximately 10 to 12 years and continuing until at least the fourth decade of life and hearing evaluation, including auditory brainstem evoked response testing. […] The incidence of NF2 was initially reported as 1:33,000 to 40,000 individuals. […] However, a recent update suggests that the incidence may be as high as 1:25,000; and the prevalence is now much higher at 1:80,000. […] MRI is usually begun between 10 and 12 years but can be delayed in families in which the onset is known to be later.

• #23 NF2-related schwannomatosis | MedLink Neurology

  https://www.medlink.com/articles/nf2-related-schwannomatosis

  NF2-related schwannomatosis is a relatively rare condition, with an estimated prevalence of 1 out of 60,000 and a birth incidence of 1 out of 33,000. There is a high rate of somatic mosaicism, which is estimated to occur in approximately 25% to 30% of cases and results in missed diagnoses. […] NF2-related schwannomatosis is inherited in an autosomal dominant disorder with an estimated risk of transmission of 50% to offspring with nearly 100% penetration. A significant portion of cases (about 50%) have no prior family history and represent de novo mutations. Patients with somatic mosaicism can also transmit the mutation but at a lower rate, which is estimated at 8% to 12%.

• #24 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1178283-overview

  The estimated incidence of neurofibromatosis type 2 (NF2) is 1 in 37,000 per year, with about half of affected individuals representing first cases in the family as a result of new, dominant mutations. […] Although the genetic change causing NF2 is present at conception, the clinical manifestations occur over many years. The typical age of onset of symptoms is in the late teens to early 20s, but the age range covers the entire life span, to include congenital forms in infancy through the elderly. […] Some evidence indicates that age of onset of clinical symptoms is lower in maternally transmitted NF2. While NF2 is quite variable in severity from person to person, family studies have shown some intrafamilial consistency in age of onset. Somatic mosaicism for the NF2 mutation in sporadic cases may also complicate the clinical picture, resulting in underdiagnosis or late diagnosis.

• #25 NF2-related schwannomatosis | MedLink Neurology

  https://www.medlink.com/articles/nf2-related-schwannomatosis

  NF2-related schwannomatosis is a relatively rare condition, with an estimated prevalence of 1 out of 60,000 and a birth incidence of 1 out of 33,000. There is a high rate of somatic mosaicism, which is estimated to occur in approximately 25% to 30% of cases and results in missed diagnoses. […] NF2-related schwannomatosis is inherited in an autosomal dominant disorder with an estimated risk of transmission of 50% to offspring with nearly 100% penetration. A significant portion of cases (about 50%) have no prior family history and represent de novo mutations. Patients with somatic mosaicism can also transmit the mutation but at a lower rate, which is estimated at 8% to 12%.

• #26 Neurofibromatosis type 2 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/neurofibromatosis-type-2

  Neurofibromatosis type 2 (NF2) is a hereditary condition that makes a person susceptible to developing tumors called schwannomas (benign tumors that form on the connective tissue surrounding nerves). […] Because neurofibromatosis type 2 is hereditary, the risk to develop the features associated with the condition may be passed from generation to generation in a family. The type and severity of the disorder is usually similar in affected relatives. […] It is estimated that about 93 percent of individuals with familial neurofibromatosis type 2 will have a mutation involving NF2. In patients with no family history of neurofibromatosis type 2, the mutation detection rate drops to 60 to 75 percent. […] Individuals with neurofibromatosis type 2 should be screened regularly for these issues through: Annual brain MRIs starting at age 10 years and continuing until at least 40 years of age.

• #27 Neurofibromatosis Type 2 | Concise Medical Knowledge

  https://www.lecturio.com/concepts/neurofibromatosis-type-2/

  The incidence of neurofibromatosis type 2 (NF2) is 1 in 25,000. […] Bilateral vestibular schwannomas are present in 90%-95% of affected individuals. […] Meningiomas are present in 50% of affected individuals. […] De novo mutations that occur in the absence of a positive family history are present in 50% of affected individuals. […] NF2 gene mutations are detected in 93% of families, with multiple members affected with NF2. […] Management of NF2 is multidisciplinary and often involves contributions from multiple specialists. […] Tumor surveillance and follow-up with screening of at-risk family members is recommended. […] Annual history and physical exam (audiology, ophthalmic evaluation, neurologic, and cutaneous examination) is part of the management. […] MRI every 12 months beginning at 10 years of age is recommended to evaluate for intracranial/spinal tumors. […] Spinal MRI every 24-36 months beginning at 10 years of age is also recommended.

• #28 Orphanet: Full NF2-related schwannomatosis

  https://www.orpha.net/en/disease/detail/637

  Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. […] Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. […] NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Surgery remains the focus of current management although watchful waiting with careful surveillance and occasionally radiation treatment have a role.

• #29 Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] | Genetics in Medicine

  https://www.nature.com/articles/gim200988

  Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. […] In excess of 50% of patients represent new mutations and as many as one third are mosaic for the underlying disease causing mutation. […] NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. […] Surveillance: For affected or at-risk individuals, annual magnetic resonance imaging (MRI) beginning at the age of approximately 10 to 12 years and continuing until at least the fourth decade of life and hearing evaluation, including auditory brainstem evoked response testing. […] The incidence of NF2 was initially reported as 1:33,000 to 40,000 individuals. […] However, a recent update suggests that the incidence may be as high as 1:25,000; and the prevalence is now much higher at 1:80,000. […] MRI is usually begun between 10 and 12 years but can be delayed in families in which the onset is known to be later.

• #30 Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2 in: Journal of Neurosurgery Volume 99 Issue 3 (2003) Journals

  https://thejns.org/view/journals/j-neurosurg/99/3/article-p480.xml

  Neurofibromatosis Type 2 (NF2) is an intractable disorder predisposing to multiple, recurrent tumors of the central nervous system (CNS). […] From among 283 patients with neurofibromatosis who had been registered in a nationwide study in Japan between 1986 and 1987, 74 patients with bilateral vestibular schwannomas were analyzed. […] Results of a Kaplan-Meier product-limit analysis indicated that overall 5-, 10-, and 20-year patient survival rates following diagnosis of NF2 were 85, 67, and 38%, respectively. […] Early onset of the initial symptom significantly compromised survival; 5-, 10-, and 20-year survival rates in patients with symptom onset at an age younger than 25 years were 80, 60, and 28%, respectively, whereas in patients with symptom onset at an age of 25 years or older the rates were 100, 87, and 62%, respectively.

• #31 Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2 in: Journal of Neurosurgery Volume 99 Issue 3 (2003) Journals

  https://thejns.org/view/journals/j-neurosurg/99/3/article-p480.xml

  Patients with small vestibular schwannomas at diagnosis ( 2 cm in diameter) had better rates of survival. […] Other variables such as sex, additional tumors in the CNS, or dermal abnormalities did not significantly affect survival. […] This first report of long-term follow-up results concerning the survival of patients with NF2 indicates an adverse effect of early symptom onset.

• #32 Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis

  https://www.mdpi.com/1422-0067/22/11/5850

  NF2 is an autosomal dominantly inherited syndrome that predisposes individuals to multiple nervous tumors. A de novo mutation may take place after fertilization, resulting in a mosaic expression. Diagnosis is based on clinical and neuroimaging studies. Two large population-based studies reported that this condition occurs in 1 in 25,000 people. The actuarial survival after diagnosis is 15 years, with an average age at death of 36 years and a 10-year survival rate of 67%. NF2 patients uniformly develop schwannomas on the bilateral vestibular portion of the eighth cranial nerve and on other cranial nerves, spinal roots, or peripheral nerves. In addition, NF2 patients often develop multiple meningiomas and ependymomas at an early age. […] The role of mutation screening for NF2 in all patients with a unilateral vestibular schwannoma is less certain. Although these patients show an increased risk for the development of NF2, routine screening for germline mutations is not recommended except in patients younger than 30 years, but can undergo prenatal diagnosis and pre-implantation genetic diagnosis.

• #33 Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis

  https://www.mdpi.com/1422-0067/22/11/5850

  NF2 is an autosomal dominantly inherited syndrome that predisposes individuals to multiple nervous tumors. A de novo mutation may take place after fertilization, resulting in a mosaic expression. Diagnosis is based on clinical and neuroimaging studies. Two large population-based studies reported that this condition occurs in 1 in 25,000 people. The actuarial survival after diagnosis is 15 years, with an average age at death of 36 years and a 10-year survival rate of 67%. NF2 patients uniformly develop schwannomas on the bilateral vestibular portion of the eighth cranial nerve and on other cranial nerves, spinal roots, or peripheral nerves. In addition, NF2 patients often develop multiple meningiomas and ependymomas at an early age. […] The role of mutation screening for NF2 in all patients with a unilateral vestibular schwannoma is less certain. Although these patients show an increased risk for the development of NF2, routine screening for germline mutations is not recommended except in patients younger than 30 years, but can undergo prenatal diagnosis and pre-implantation genetic diagnosis.

• #34 Neurofibromatosis Type 2: Case Presentation and Review of the Literature | IntechOpen

  https://www.intechopen.com/chapters/1136889

  Patients diagnosed with neurofibromatosis type 2 (NF2) are likely to develop vestibular schwannomas, meningiomas, and other tumors that may be difficult to treat. […] The average age of diagnosis of NF2 is 25 years. Epidemiological studies place the incidence of NF2 between 1 in 33,000-40,000 live births, and there is no apparent difference in the proportion of men versus women who develop NF2. […] We recommend routine surveillance in all patients with NF2 whether or not they are symptomatic from their tumors. Patient visits should always include a complete physical examination and the appropriate imaging which usually includes a high-quality MRI of the brain and/or spine with and without contrast. […] The frequency of visits and imaging may vary from 4 months to annually based on clinical parameters.

• #35 Neurofibromatosis Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470350/

  The incidence of NF2 is about 1 in 25,000 to 40,000 individuals. […] For tumor surveillance, an annual brain MRI is recommended. If no brain tumor is seen on the initial imaging, then MRI can be done every 2 years. If the tumor is seen, an MRI should be done twice in the first year, followed by an annual follow-up.

• #36 Surveillance for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/treatments/surveillance-for-neurofibromatosis

  Surveillancemeaning that doctors carefully monitor your condition but do not treat itmay be an option in people with neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis. […] For people with neurofibromatosis type 2, NYU Langone doctors often recommend audiograms, or hearing tests, typically every six months to a year. These tests can help physicians determine whether a vestibular schwannoma, or tumor that develops on the nerves leading from the ears to the brain, has developed. […] Our doctors also recommend MRIs of the brain and spine at least once a year after diagnosis, in order to check for tumors. MRIs may need to be more frequent in people whose tumors appear to be growing or who are experiencing any hearing problems. […] Additionally, our doctors recommend that people with neurofibromatosis type 2 have an eye exam with an ophthalmologist every year to look for early cataract formation.

• #37 Neurofibromatosis type 2 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/neurofibromatosis-type-2

  Neurofibromatosis type 2 (NF2) is a hereditary condition that makes a person susceptible to developing tumors called schwannomas (benign tumors that form on the connective tissue surrounding nerves). […] Because neurofibromatosis type 2 is hereditary, the risk to develop the features associated with the condition may be passed from generation to generation in a family. The type and severity of the disorder is usually similar in affected relatives. […] It is estimated that about 93 percent of individuals with familial neurofibromatosis type 2 will have a mutation involving NF2. In patients with no family history of neurofibromatosis type 2, the mutation detection rate drops to 60 to 75 percent. […] Individuals with neurofibromatosis type 2 should be screened regularly for these issues through: Annual brain MRIs starting at age 10 years and continuing until at least 40 years of age.

• #38 Neurofibromatosis Type 2 | Concise Medical Knowledge

  https://www.lecturio.com/concepts/neurofibromatosis-type-2/

  The incidence of neurofibromatosis type 2 (NF2) is 1 in 25,000. […] Bilateral vestibular schwannomas are present in 90%-95% of affected individuals. […] Meningiomas are present in 50% of affected individuals. […] De novo mutations that occur in the absence of a positive family history are present in 50% of affected individuals. […] NF2 gene mutations are detected in 93% of families, with multiple members affected with NF2. […] Management of NF2 is multidisciplinary and often involves contributions from multiple specialists. […] Tumor surveillance and follow-up with screening of at-risk family members is recommended. […] Annual history and physical exam (audiology, ophthalmic evaluation, neurologic, and cutaneous examination) is part of the management. […] MRI every 12 months beginning at 10 years of age is recommended to evaluate for intracranial/spinal tumors. […] Spinal MRI every 24-36 months beginning at 10 years of age is also recommended.

• #39 Surveillance for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/treatments/surveillance-for-neurofibromatosis

  Surveillancemeaning that doctors carefully monitor your condition but do not treat itmay be an option in people with neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis. […] For people with neurofibromatosis type 2, NYU Langone doctors often recommend audiograms, or hearing tests, typically every six months to a year. These tests can help physicians determine whether a vestibular schwannoma, or tumor that develops on the nerves leading from the ears to the brain, has developed. […] Our doctors also recommend MRIs of the brain and spine at least once a year after diagnosis, in order to check for tumors. MRIs may need to be more frequent in people whose tumors appear to be growing or who are experiencing any hearing problems. […] Additionally, our doctors recommend that people with neurofibromatosis type 2 have an eye exam with an ophthalmologist every year to look for early cataract formation.

• #40 NF2 (Neurofibromatosis type 2) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1910-nf2-neurofibromatosis-type-2-risk-managem

  Individuals with possible or probable NF2 or mosaic disease may require more individualised management depending on their clinical presentation. […] MRI is recommended even in asymptomatic individuals as NF2 associated tumours and interval tumour growth may occur without any change in symptoms. […] The type, timing and degree of surgery (if any) should be carefully considered by a multidisciplinary team with experience in managing NF2, the lifelong implications of the condition, its treatments and the complications that may result from treatment. […] Anti-angiogenic agents (including bevacizumab) have demonstrated disease stabilisation, tumour reduction and improved hearing in bilateral vestibular schwannoma. […] Given the de novo rate and chance of mosaicism, first degree blood relatives (parents/brothers/sisters/children) may be at up to 50% risk of having inherited the pathogenic variant. More distant relatives may also be at risk of inheriting the pathogenic variant.

• #41 Neurofibromatosis type 2 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/neurofibromatosis-type-2

  Neurofibromatosis type 2 (NF2) is a hereditary condition that makes a person susceptible to developing tumors called schwannomas (benign tumors that form on the connective tissue surrounding nerves). […] Because neurofibromatosis type 2 is hereditary, the risk to develop the features associated with the condition may be passed from generation to generation in a family. The type and severity of the disorder is usually similar in affected relatives. […] It is estimated that about 93 percent of individuals with familial neurofibromatosis type 2 will have a mutation involving NF2. In patients with no family history of neurofibromatosis type 2, the mutation detection rate drops to 60 to 75 percent. […] Individuals with neurofibromatosis type 2 should be screened regularly for these issues through: Annual brain MRIs starting at age 10 years and continuing until at least 40 years of age.

• #42 Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] | Genetics in Medicine

  https://www.nature.com/articles/gim200988

  Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. […] In excess of 50% of patients represent new mutations and as many as one third are mosaic for the underlying disease causing mutation. […] NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. […] Surveillance: For affected or at-risk individuals, annual magnetic resonance imaging (MRI) beginning at the age of approximately 10 to 12 years and continuing until at least the fourth decade of life and hearing evaluation, including auditory brainstem evoked response testing. […] The incidence of NF2 was initially reported as 1:33,000 to 40,000 individuals. […] However, a recent update suggests that the incidence may be as high as 1:25,000; and the prevalence is now much higher at 1:80,000. […] MRI is usually begun between 10 and 12 years but can be delayed in families in which the onset is known to be later.

• #43 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  The incidence of NF2 is approximately 1 in 25,000 live births, typically manifesting symptoms from late teens to early 20s. The disorder follows an autosomal dominant inheritance pattern, although about 50% of cases arise from spontaneous mutations (de novo mutations). […] Genetic counseling and prenatal testing, such as amniocentesis or chorionic villus sampling, are highly recommended due to the significant inheritability and variability of the disorder. […] Patients need an annual hearing assessment, potentially including brainstem auditory evoked responses, to check for early signs of schwannoma recurrence before other symptoms appear. Regular yearly examinations by an ophthalmologist and dermatologist are necessary to track disease progression. Starting between the ages of 10 and 12, craniospinal MRI should be conducted every two years for individuals under 20, and every three to five years afterward. If tumors are identified, imaging should be carried out annually.

• #44 NF2-related schwannomatosis

  https://www.genturis.eu/l=eng/thematic-disease-groups/schwannomatosis-and-neurofibromatosis/nf2-related-schwannomatosis.html

  NF2-related schwannomatosis is present in an estimated 1 in 30,000 new-borns. […] Screening in NF2-related schwannomatosis can start with testing for the family gene fault of unaffected relatives before symptoms appeared. Thereafter screening is generally based on the current problems but in adults will usually mean at least an annual head MRI scan and 3 yearly spinal MRI.

• #45 Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] | Genetics in Medicine

  https://www.nature.com/articles/gim200988

  Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. […] In excess of 50% of patients represent new mutations and as many as one third are mosaic for the underlying disease causing mutation. […] NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. […] Surveillance: For affected or at-risk individuals, annual magnetic resonance imaging (MRI) beginning at the age of approximately 10 to 12 years and continuing until at least the fourth decade of life and hearing evaluation, including auditory brainstem evoked response testing. […] The incidence of NF2 was initially reported as 1:33,000 to 40,000 individuals. […] However, a recent update suggests that the incidence may be as high as 1:25,000; and the prevalence is now much higher at 1:80,000. […] MRI is usually begun between 10 and 12 years but can be delayed in families in which the onset is known to be later.

• #46 Surveillance for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/treatments/surveillance-for-neurofibromatosis

  Surveillancemeaning that doctors carefully monitor your condition but do not treat itmay be an option in people with neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis. […] For people with neurofibromatosis type 2, NYU Langone doctors often recommend audiograms, or hearing tests, typically every six months to a year. These tests can help physicians determine whether a vestibular schwannoma, or tumor that develops on the nerves leading from the ears to the brain, has developed. […] Our doctors also recommend MRIs of the brain and spine at least once a year after diagnosis, in order to check for tumors. MRIs may need to be more frequent in people whose tumors appear to be growing or who are experiencing any hearing problems. […] Additionally, our doctors recommend that people with neurofibromatosis type 2 have an eye exam with an ophthalmologist every year to look for early cataract formation.

• #47 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  The incidence of NF2 is approximately 1 in 25,000 live births, typically manifesting symptoms from late teens to early 20s. The disorder follows an autosomal dominant inheritance pattern, although about 50% of cases arise from spontaneous mutations (de novo mutations). […] Genetic counseling and prenatal testing, such as amniocentesis or chorionic villus sampling, are highly recommended due to the significant inheritability and variability of the disorder. […] Patients need an annual hearing assessment, potentially including brainstem auditory evoked responses, to check for early signs of schwannoma recurrence before other symptoms appear. Regular yearly examinations by an ophthalmologist and dermatologist are necessary to track disease progression. Starting between the ages of 10 and 12, craniospinal MRI should be conducted every two years for individuals under 20, and every three to five years afterward. If tumors are identified, imaging should be carried out annually.

• #48 Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis

  https://www.mdpi.com/1422-0067/22/2/690

  Treatment of NF2 involves the combination of medical surveillance through physical exam, audiometric testing, imaging, and surgical intervention when indicated. Patients are managed by a multidisciplinary team including neurotologists, neurologists, audiologists, oncologists, geneticists, neurosurgeons, and ophthalmologists.

• #49 Neurofibromatosis Type 2 | Concise Medical Knowledge

  https://www.lecturio.com/concepts/neurofibromatosis-type-2/

  The incidence of neurofibromatosis type 2 (NF2) is 1 in 25,000. […] Bilateral vestibular schwannomas are present in 90%-95% of affected individuals. […] Meningiomas are present in 50% of affected individuals. […] De novo mutations that occur in the absence of a positive family history are present in 50% of affected individuals. […] NF2 gene mutations are detected in 93% of families, with multiple members affected with NF2. […] Management of NF2 is multidisciplinary and often involves contributions from multiple specialists. […] Tumor surveillance and follow-up with screening of at-risk family members is recommended. […] Annual history and physical exam (audiology, ophthalmic evaluation, neurologic, and cutaneous examination) is part of the management. […] MRI every 12 months beginning at 10 years of age is recommended to evaluate for intracranial/spinal tumors. […] Spinal MRI every 24-36 months beginning at 10 years of age is also recommended.

• #50 Surveillance for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/treatments/surveillance-for-neurofibromatosis

  Surveillancemeaning that doctors carefully monitor your condition but do not treat itmay be an option in people with neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis. […] For people with neurofibromatosis type 2, NYU Langone doctors often recommend audiograms, or hearing tests, typically every six months to a year. These tests can help physicians determine whether a vestibular schwannoma, or tumor that develops on the nerves leading from the ears to the brain, has developed. […] Our doctors also recommend MRIs of the brain and spine at least once a year after diagnosis, in order to check for tumors. MRIs may need to be more frequent in people whose tumors appear to be growing or who are experiencing any hearing problems. […] Additionally, our doctors recommend that people with neurofibromatosis type 2 have an eye exam with an ophthalmologist every year to look for early cataract formation.

• #51 NF2 (Neurofibromatosis type 2) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1910-nf2-neurofibromatosis-type-2-risk-managem

  Individuals with possible or probable NF2 or mosaic disease may require more individualised management depending on their clinical presentation. […] MRI is recommended even in asymptomatic individuals as NF2 associated tumours and interval tumour growth may occur without any change in symptoms. […] The type, timing and degree of surgery (if any) should be carefully considered by a multidisciplinary team with experience in managing NF2, the lifelong implications of the condition, its treatments and the complications that may result from treatment. […] Anti-angiogenic agents (including bevacizumab) have demonstrated disease stabilisation, tumour reduction and improved hearing in bilateral vestibular schwannoma. […] Given the de novo rate and chance of mosaicism, first degree blood relatives (parents/brothers/sisters/children) may be at up to 50% risk of having inherited the pathogenic variant. More distant relatives may also be at risk of inheriting the pathogenic variant.

• #52 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  The incidence of NF2 is approximately 1 in 25,000 live births, typically manifesting symptoms from late teens to early 20s. The disorder follows an autosomal dominant inheritance pattern, although about 50% of cases arise from spontaneous mutations (de novo mutations). […] Genetic counseling and prenatal testing, such as amniocentesis or chorionic villus sampling, are highly recommended due to the significant inheritability and variability of the disorder. […] Patients need an annual hearing assessment, potentially including brainstem auditory evoked responses, to check for early signs of schwannoma recurrence before other symptoms appear. Regular yearly examinations by an ophthalmologist and dermatologist are necessary to track disease progression. Starting between the ages of 10 and 12, craniospinal MRI should be conducted every two years for individuals under 20, and every three to five years afterward. If tumors are identified, imaging should be carried out annually.

• #53 Coverage Policy Manual – Arkansas Blue Cross and Blue Shield

  https://secure.arkansasbluecross.com/members/report.aspx?policyNumber=2016002&viewIntro=yes

  Neurofibromatosis type 2 (NF2) is estimated to occur in 1 in 33,000 individuals. […] The diagnosis of NF2 is usually made on clinical findings and more recently-identified molecular findings. […] The new criteria for NF2 are met when an individual has one of the following: Bilateral vestibular schwannomas; Identical somatic NF2 pathogenic variant identified in at least 2 anatomically distinct NF2-related tumors; Either 2 major criteria below or 1 major plus 2 minor criteria below. […] NF2 is inherited in an autosomal dominant manner; approximately 50% of individuals have an affected parent and the other 50% have NF2 as a result of a de novo mutation. […] Surveillance measures for affected or at-risk individuals include annual MRI beginning at around age 10 and continuing until at least the fourth decade of life. […] Early identification of relatives who have inherited the family-specific NF2 mutation allows for appropriate screening using MRI for neuroimaging and audiologic evaluation, which result in earlier detection and improved outcomes.

• #54 NF2-related schwannomatosis

  https://www.genturis.eu/l=eng/thematic-disease-groups/schwannomatosis-and-neurofibromatosis/nf2-related-schwannomatosis.html

  NF2-related schwannomatosis is present in an estimated 1 in 30,000 new-borns. […] Screening in NF2-related schwannomatosis can start with testing for the family gene fault of unaffected relatives before symptoms appeared. Thereafter screening is generally based on the current problems but in adults will usually mean at least an annual head MRI scan and 3 yearly spinal MRI.

• #55 Neurofibromatosis type 2 (NF2)

  https://www.genturis.eu/l=fra/Syndromes/Neurofibromatoses/NF2.html

  Neurofibromatosis type 2 (NF2) is a disorder characterized by the development of noncancerous tumours along the nerves called schwannomas, which nearly always occur on the hearing and balance nerves (vestibular schwannomas-VS). […] Screening in NF2 can start with testing of unaffected relatives before symptoms for the family gene fault. Thereafter screening is generally based on the current problems but will usually mean at least an annual head MRI scan and 3 yearly spinal MRI.

• #56 NF2 (Neurofibromatosis type 2) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1910-nf2-neurofibromatosis-type-2-risk-managem

  Neurofibromatosis type 2 (NF2) is an autosomal dominant tumour predisposition condition, characterised by the development of nerve cell tumours such as schwannomas and meningiomas, ophthalmological and skin lesions, and peripheral neuropathy. Approximately 50% of cases are de novo, and of these, one third are mosaic, often with milder, asymmetrical disease. […] The care of an individual who has developed a related tumour or cancer should be individualised based on their clinical situation, their family history and the monitoring they need as part of their treatment and post-treatment follow-up. […] The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised. […] Individuals with NF2 should be managed by a multidisciplinary team who have extensive experience with the condition and may include neurosurgeons, ear nose and throat surgeons, neurologists, clinical geneticists, ophthalmologists, pathologists, radiologists, audiologists, genetic counsellors and other nursing and allied health staff.

• #57 Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis

  https://www.mdpi.com/1422-0067/22/2/690

  Treatment of NF2 involves the combination of medical surveillance through physical exam, audiometric testing, imaging, and surgical intervention when indicated. Patients are managed by a multidisciplinary team including neurotologists, neurologists, audiologists, oncologists, geneticists, neurosurgeons, and ophthalmologists.

• #58 NF2 Clinic: Proactive, coordinated multidisciplinary care – Mayo Clinic

  https://www.mayoclinic.org/medical-professionals/neurology-neurosurgery/news/nf2-clinic-proactive-coordinated-multidisciplinary-care/mac-20509266

  Mayo Clinic has launched the multidisciplinary Neurofibromatosis Type 2 Clinic to provide comprehensive management of this uncommon genetic condition. […] Patients referred to the NF2 Clinic typically complete imaging tests and multispecialty examinations and start treatment within a few days. […] About half of people with NF2 have a family history of the disease, and half present with a new mutation. As an autosomal dominant genetic disorder, NF2 has about a 50% chance of being passed on to children. […] If a patient already has a child at risk of NF2, we provide screening and surveillance starting at age 12 because tumors associated with NF2 can occur at an early age. […] Follow-up visits to the NF2 Clinic are scheduled annually or more frequently as needed. Mayo Clinic is committed to providing lifelong care.

• #59 NF2 (Neurofibromatosis type 2) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1910-nf2-neurofibromatosis-type-2-risk-managem

  Neurofibromatosis type 2 (NF2) is an autosomal dominant tumour predisposition condition, characterised by the development of nerve cell tumours such as schwannomas and meningiomas, ophthalmological and skin lesions, and peripheral neuropathy. Approximately 50% of cases are de novo, and of these, one third are mosaic, often with milder, asymmetrical disease. […] The care of an individual who has developed a related tumour or cancer should be individualised based on their clinical situation, their family history and the monitoring they need as part of their treatment and post-treatment follow-up. […] The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised. […] Individuals with NF2 should be managed by a multidisciplinary team who have extensive experience with the condition and may include neurosurgeons, ear nose and throat surgeons, neurologists, clinical geneticists, ophthalmologists, pathologists, radiologists, audiologists, genetic counsellors and other nursing and allied health staff.

• #60 NF2 Clinic: Proactive, coordinated multidisciplinary care – Mayo Clinic

  https://www.mayoclinic.org/medical-professionals/neurology-neurosurgery/news/nf2-clinic-proactive-coordinated-multidisciplinary-care/mac-20509266

  Mayo Clinic has launched the multidisciplinary Neurofibromatosis Type 2 Clinic to provide comprehensive management of this uncommon genetic condition. […] Patients referred to the NF2 Clinic typically complete imaging tests and multispecialty examinations and start treatment within a few days. […] About half of people with NF2 have a family history of the disease, and half present with a new mutation. As an autosomal dominant genetic disorder, NF2 has about a 50% chance of being passed on to children. […] If a patient already has a child at risk of NF2, we provide screening and surveillance starting at age 12 because tumors associated with NF2 can occur at an early age. […] Follow-up visits to the NF2 Clinic are scheduled annually or more frequently as needed. Mayo Clinic is committed to providing lifelong care.

• #61 NF2 (Neurofibromatosis type 2) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1910-nf2-neurofibromatosis-type-2-risk-managem

  Individuals with possible or probable NF2 or mosaic disease may require more individualised management depending on their clinical presentation. […] MRI is recommended even in asymptomatic individuals as NF2 associated tumours and interval tumour growth may occur without any change in symptoms. […] The type, timing and degree of surgery (if any) should be carefully considered by a multidisciplinary team with experience in managing NF2, the lifelong implications of the condition, its treatments and the complications that may result from treatment. […] Anti-angiogenic agents (including bevacizumab) have demonstrated disease stabilisation, tumour reduction and improved hearing in bilateral vestibular schwannoma. […] Given the de novo rate and chance of mosaicism, first degree blood relatives (parents/brothers/sisters/children) may be at up to 50% risk of having inherited the pathogenic variant. More distant relatives may also be at risk of inheriting the pathogenic variant.

• #62 Neurofibromatosis Type 2: Case Presentation and Review of the Literature | IntechOpen

  https://www.intechopen.com/chapters/1136889

  Patients diagnosed with neurofibromatosis type 2 (NF2) are likely to develop vestibular schwannomas, meningiomas, and other tumors that may be difficult to treat. […] The average age of diagnosis of NF2 is 25 years. Epidemiological studies place the incidence of NF2 between 1 in 33,000-40,000 live births, and there is no apparent difference in the proportion of men versus women who develop NF2. […] We recommend routine surveillance in all patients with NF2 whether or not they are symptomatic from their tumors. Patient visits should always include a complete physical examination and the appropriate imaging which usually includes a high-quality MRI of the brain and/or spine with and without contrast. […] The frequency of visits and imaging may vary from 4 months to annually based on clinical parameters.

• #63 NF2 (Neurofibromatosis type 2) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1910-nf2-neurofibromatosis-type-2-risk-managem

  Neurofibromatosis type 2 (NF2) is an autosomal dominant tumour predisposition condition, characterised by the development of nerve cell tumours such as schwannomas and meningiomas, ophthalmological and skin lesions, and peripheral neuropathy. Approximately 50% of cases are de novo, and of these, one third are mosaic, often with milder, asymmetrical disease. […] The care of an individual who has developed a related tumour or cancer should be individualised based on their clinical situation, their family history and the monitoring they need as part of their treatment and post-treatment follow-up. […] The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised. […] Individuals with NF2 should be managed by a multidisciplinary team who have extensive experience with the condition and may include neurosurgeons, ear nose and throat surgeons, neurologists, clinical geneticists, ophthalmologists, pathologists, radiologists, audiologists, genetic counsellors and other nursing and allied health staff.

• #64 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The genetic tumor predisposition syndrome neurofibromatosis type 2 (NF2) is a rare disease with a prevalence of 1:56.000 and an incidence of 1 case in 33,000 to 40,000 live births per year. […] Therefore, early diagnosis with ensuing early awareness of VS and monitoring of hearing is crucial. […] The presenting symptoms in NF2 children appear unspecific or less specific for classical NF2 compared with adult NF2 patients, posing a challenge particularly for cases without family history. […] In general, children with a positive family history are diagnosed earlier. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging. […] Overlooking and underestimating non-specific symptoms in children may lead to relevant delays in diagnosing NF2 with the consequent of wasting valuable time for early medical and surgical treatment to protect the patients of the NF2 effects as long as possible.

• #65 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The genetic tumor predisposition syndrome neurofibromatosis type 2 (NF2) is a rare disease with a prevalence of 1:56.000 and an incidence of 1 case in 33,000 to 40,000 live births per year. […] Therefore, early diagnosis with ensuing early awareness of VS and monitoring of hearing is crucial. […] The presenting symptoms in NF2 children appear unspecific or less specific for classical NF2 compared with adult NF2 patients, posing a challenge particularly for cases without family history. […] In general, children with a positive family history are diagnosed earlier. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging. […] Overlooking and underestimating non-specific symptoms in children may lead to relevant delays in diagnosing NF2 with the consequent of wasting valuable time for early medical and surgical treatment to protect the patients of the NF2 effects as long as possible.

• #66 Neurofibromatosis type 2 (NF2): A clinical and molecular review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2708144/

  When using established clinical diagnostic criteria and based on mutations in the NF2 gene assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism. There have only been two epidemiological studies of NF2 one in North West England, and one in Finland. The incidence of NF2 was initially reported as 1:3340,000 individuals in a 4 million population in England. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland.

• #67 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. […] When using established clinical diagnostic criteria and based on mutations in the NF2 gene assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism. There have only been two epidemiological studies of NF2 one in North West England, and one in Finland. The incidence of NF2 was initially reported as 1:3340,000 individuals in a 4 million population in England. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland.

• #68 Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02911-2

  From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final review. […] There were only 2 studies on NF2 prevalence, so data were not pooled. […] The estimated prevalence of NF2 is much lower, approximately 1 in 60,000. […] The 2 studies reporting NF2 prevalence had crude estimates of 1 in 216,110 and 1 in 56,161; we did not pool these estimates. […] We included all 4 studies reporting NF2 birth incidence in the meta-analysis, for a total of 56 cases in 2,724,391 births. […] Our pooled estimate of birth incidence is 1 in 50,000, with relatively low heterogeneity among studies. […] Given the wide discrepancy in NF2 prevalence rates between the two included studies, there is need for further research into the epidemiology of NF2, especially in countries outside of Europe.

• #69 Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02911-2

  From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final review. […] There were only 2 studies on NF2 prevalence, so data were not pooled. […] The estimated prevalence of NF2 is much lower, approximately 1 in 60,000. […] The 2 studies reporting NF2 prevalence had crude estimates of 1 in 216,110 and 1 in 56,161; we did not pool these estimates. […] We included all 4 studies reporting NF2 birth incidence in the meta-analysis, for a total of 56 cases in 2,724,391 births. […] Our pooled estimate of birth incidence is 1 in 50,000, with relatively low heterogeneity among studies. […] Given the wide discrepancy in NF2 prevalence rates between the two included studies, there is need for further research into the epidemiology of NF2, especially in countries outside of Europe.

• #70 Neurofibromatosis type 2 (NF2): A clinical and molecular review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2708144/

  When using established clinical diagnostic criteria and based on mutations in the NF2 gene assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism. There have only been two epidemiological studies of NF2 one in North West England, and one in Finland. The incidence of NF2 was initially reported as 1:3340,000 individuals in a 4 million population in England. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland.

• #71 Neurofibromatosis Type-2 – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1505905-neurofibromatosis-type-market-insight-epidemiology.html

  The Neurofibromatosis Type-2 epidemiology division provide insights about historical and current Neurofibromatosis Type-2 patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Neurofibromatosis Type-2 epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Neurofibromatosis Type-2 epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

• #72 Neurofibromatosis: Types and Treatment | Doctor

  https://patient.info/doctor/neurofibromatosis-pro

  Both type 1 and type 2 NF are inherited as autosomal dominant conditions but, for both types, there is no family history in about 50%, reflecting the incidence of new mutations. […] Neurofibromatosis type 2 makes up about 3% of all cases and has a prevalence of around 1 in 33,000 births. […] There is no gender or race predilection. Neurofibromatosis type 2 has variable presentations amongst different families. A more severe clinical presentation is associated with a frameshift or a nonsense mutation that results in a truncated protein.

• #73 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1178283-overview

  The estimated incidence of neurofibromatosis type 2 (NF2) is 1 in 37,000 per year, with about half of affected individuals representing first cases in the family as a result of new, dominant mutations. […] Although the genetic change causing NF2 is present at conception, the clinical manifestations occur over many years. The typical age of onset of symptoms is in the late teens to early 20s, but the age range covers the entire life span, to include congenital forms in infancy through the elderly. […] Some evidence indicates that age of onset of clinical symptoms is lower in maternally transmitted NF2. While NF2 is quite variable in severity from person to person, family studies have shown some intrafamilial consistency in age of onset. Somatic mosaicism for the NF2 mutation in sporadic cases may also complicate the clinical picture, resulting in underdiagnosis or late diagnosis.

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