scholarly journals New Developments in Neurofibromatosis Type 2 and Vestibular Schwannoma

2020 ◽  
Author(s):  
Yin Ren ◽  
Divya A Chari ◽  
Sasa Vasilijic ◽  
D Bradley Welling ◽  
Konstantina M Stankovic
Keyword(s):  
Treatment Options ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Severe Form ◽  
Neurofibromatosis Type 2 ◽  
Future Research ◽  
Autosomal Dominant Disorder ◽  
Management Options ◽  
Stereotactic Radiation

Abstract Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder characterized by the development of multiple nervous system tumors due to mutation in the NF2 tumor suppressor gene. The hallmark feature of the NF2 syndrome is the development of bilateral vestibular schwannomas (VS). Although there is nearly 100% penetrance by 60 years of age, some patients suffer from a severe form of the disease and develop multiple tumors at an early age, while others are asymptomatic until later in life. Management options for VS include surgery, stereotactic radiation, and observation with serial imaging; however, currently there are no FDA-approved pharmacotherapies for NF2 or VS. Recent advancements in the molecular biology underlying NF2 have led to a better understanding of the etiology and pathogenesis of VS. These novel signaling pathways may be used to identify targeted therapies for these tumors. This review discusses the clinical features and treatment options for sporadic- and NF2-associated VS, the diagnostic and screening criteria, completed and ongoing clinical trials, quality of life metrics, and opportunities for future research.

Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis Type 2

2010 ◽  
Vol 112 (1) ◽  
pp. 81-87 ◽  
Author(s):  
Matthew L. Carlson ◽  
Dusica Babovic-Vuksanovic ◽  
Ludwine Messiaen ◽  
Bernd W. Scheithauer ◽  
Brian A. Neff ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Stereotactic Radiosurgery ◽  
Tumor Suppressor Gene ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Benign Tumors ◽  
Autosomal Dominant Disorder ◽  
Peripheral Nerve Sheath Tumors

Neurofibromatosis Type 2 (NF2) is a rare autosomal dominant disorder characterized by the development of benign tumors of the peripheral nervous system and the CNS, including schwannomas, meningiomas, and ependymomas. The gene responsible for the development of NF2 acts as a tumor suppressor gene. Stereotactic radiotherapy (SRT) or single-fraction stereotactic radiosurgery has been increasingly used in the past decades to treat benign tumors in patients with NF2. These radiotherapy methods are less invasive and can be potentially used to treat multiple tumors in a single session. The risk of inducing malignancy is unclear. Few reports exist of malignant peripheral nerve sheath tumors, meningiomas, or ependymomas occurring after SRT or stereotactic radiosurgery in patients with NF2. The authors present the first documented case of rhabdomyosarcoma following SRT for multiple NF2-associated schwannomas. Compared with patients with sporadic tumors, NF2 patients having a germline tumor suppressor gene defect may be more prone to secondary malignancies after treatment involving radiation therapy.

scholarly journals NEUROFIBROMATOSIS TYPE 2: A REVIEW OF PAIN MANAGEMENT OPTIONS

2019 ◽  
pp. 63-68
Author(s):  
Devang Padalia
Keyword(s):  
Chronic Pain ◽  
Pain Management ◽  
Treatment Options ◽  
Disease Process ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Successful Outcome ◽  
Management Options ◽  
Novel Treatment

Neurofibromatosis is a chronic and painful disease process that can cause significant morbidity. The development of central and peripheral lesions is the primary source of acute and chronic pain. The pain associated with this condition is difficult to treat, but there are a number of options to make the lives of these patients more comfortable. A review of current literature and research data was used to compile a detailed list of treatment options for patients with neurofibromatosis type 2 (NF2). Key points on physiology and pain, as well as current and potential treatment options, are discussed. There are a number of articles, case reports, and studies regarding the treatment options for pain in patients with NF2. However, there is a lack of well-controlled randomized trials that demonstrate the superiority of one treatment modality. There are novel treatment plans being tailored to work at a genetic level, but these still require further research before implementing in daily practice. The management of chronic pain in NF2 is a difficult challenge for the medical community. Novel treatment options are currently being researched to improve the quality of life in these patients. Using a multimodal approach to pain control will improve the chances of a successful outcome. Key words: Neurofibromatosis type 2, schwannomatosis, neurofibromatosis type 1, chronic pain, pain management, neurofibroma, analgesics

Resection of 2 Intradural Extramedullary Cervical Spine Tumors in a Patient With Neurofibromatosis Type 2: 3-Dimensional Operative Video

2018 ◽  
Vol 16 (2) ◽  
pp. 274-274
Author(s):  
Simone E Dekker ◽  
Chad A Glenn ◽  
Thomas A Ostergard ◽  
Osmond C Wu ◽  
Fernando Alonso ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Cervical Spine ◽  
Treatment Options ◽  
Tumor Resection ◽  
Neurofibromatosis Type ◽  
Cord Compression ◽  
Neurofibromatosis Type 2 ◽  
3 Dimensional ◽  
Intradural Extramedullary

Abstract This 3-dimensional operative video illustrates resection of 2 cervical spine schwannomas in a 19-yr-old female with neurofibromatosis type 2. The patient presented with lower extremity hyperreflexity and hypertonicity. Magnetic resonance imaging (MRI) demonstrated 2 contrast-enhancing intradural extramedullary cervical spine lesions causing spinal cord compression at C4 and C5. The patient underwent a posterior cervical laminoplasty with a midline dural opening for tumor resection. Curvilinear spine cord compression is demonstrated in the operative video. After meticulous dissection, the tumors were resected without complication. The dural closure was performed in watertight fashion followed by laminoplasty using osteoplastic titanium miniplates and screws. Postoperative MRI demonstrated gross total resection with excellent decompression of the spinal cord. The postoperative course was uneventful. The natural history of this disease, treatment options, and potential complications are discussed.

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma

1996 ◽  
Vol 84 (5) ◽  
pp. 847-851 ◽  
Author(s):  
Takehiko Harada ◽  
Richard M. Irving ◽  
John H. Xuereb ◽  
David E. Barton ◽  
David G. Hardy ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Sporadic Meningioma

✓ The authors investigated the role of somatic mutations of the neurofibromatosis type 2 (NF2) gene in sporadic meningioma. Neurofibromatosis 2 is a dominantly inherited familial tumor syndrome predisposing affected patients to a variety of central nervous system tumors including vestibular schwannoma and meningioma. Neurofibromatosis type 2 is caused by germline mutations in the NF2 tumor suppressor gene. In addition, the authors and others have reported that somatic NF2 gene mutations occur frequently in nonfamilial vestibular schwannoma. In this study, molecular genetic analysis was performed on 23 nonfamilial meningiomas. Paired DNA samples extracted from the blood and tumors of the patients were analyzed for loss of heterozygosity (LOH) in the region of the NF2 gene on chromosome 22 using closely linked DNA markers. The NF2 gene mutations were sought by single-stranded conformation polymorphism analysis and DNA sequencing. Fourteen (61%) of 23 meningiomas showed LOH in the region of the NF2 gene on chromosome 22. Somatic NF2 gene mutations were detected in eight meningiomas (35%) after screening all 17 exons. All tumors with NF2 gene mutations showed simultaneous chromosome 22 LOH. Review of the histopathological findings of the cases studied did not demonstrate any predominance of genetic abnormalities in a particular histological type of meningioma. These results are compatible with the hypothesis that the NF2 gene acts as a tumor suppressor and that its inactivation is important in the pathogenesis of sporadic meningioma.

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1994 ◽  
Vol 3 (5) ◽  
pp. 813-816 ◽  
Author(s):  
David Bourn ◽  
Simon A. Carter ◽  
Susan Mason ◽  
D.Gareth R. Evans ◽  
Tom Strachan
Keyword(s):  
Neurofibromatosis Type ◽  
Germline Mutations ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Tumour Suppressor

Neurofibromatosis Type 2

2016 ◽  
Vol 32 (1) ◽  
pp. 9-22 ◽  
Author(s):  
Simone Ardern-Holmes ◽  
Gemma Fisher ◽  
Kathryn North
Keyword(s):  
Vision Loss ◽  
Clinical Signs ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Careful Examination ◽  
Benign Tumors ◽  
Autosomal Dominant Disorder ◽  
Timely Initiation ◽  
Disease Specific

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally. Schwannomas commonly occur on other nerves intracranially and in the spinal compartment, along with meningiomas, ependymomas, and gliomas. Although histologically benign, tumors are associated with significant morbidity due to multiple problems including hearing and vision loss, gait abnormalities, paralysis, pain, and seizures. Risk of early mortality from brainstem compression and other complications is significant. Severity of disease is higher when NF2 presents during childhood. Children have a more variable presentation, which can be associated with significant delays in recognition of the condition. Careful examination of the skin and eyes can identify important clinical signs of NF2 during childhood, allowing timely initiation of disease-specific surveillance and treatment. Monitoring for complications comprises clinical evaluation, along with functional testing including audiology and serial neuroimaging, which together inform decisions regarding treatment. Evidence for disease-specific medical treatment options is increasing, nevertheless most patients will benefit from multimodal treatment including surgery during their lifetime. Patient enrolment in international natural history and treatment trials offers the best opportunity to accelerate our understanding of the complications and optimal treatment of NF2, with a view to improving outcomes for all affected individuals.

scholarly journals Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations

2021 ◽  
Author(s):  
Ashok Gandhi ◽  
Swarup Sohan Gandhi ◽  
Surendra Jain ◽  
Shashikant Jain ◽  
Paresh Sukhani
Keyword(s):  
Nervous System ◽  
Incidental Finding ◽  
Significant Proportion ◽  
Young Patients ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Spinal Tumors ◽  
Benign Tumors

Abstract Introduction Neurofibromatosis type 2 (NF2) also known as MISME syndrome stands for multiple inherited schwannomas, meningiomas, and ependymomas in the peripheral and central nervous system. It is a rare disorder of autosomal dominant inheritance due to mutations of a tumor-suppressor gene on the chromosome 22q12. Clinically, it is characterized by multiple benign tumors arising in both the central and peripheral nervous system, particularly from the bilateral vestibular nerve, in more than 90% of the patients, with more than two thirds of them developing spinal tumors. Materials and Methods Here, we studied the variable presentations of cases of NF2, and thorough evaluation of patients was done by contrast MRI of brain and spine. Also, evaluation of ocular manifestations and cutaneous features was done in cases of NF2, and a follow-up was done for a period of 18 months with monitoring of cranial and spinal lesions. Conclusion We studied the various presentations of NF2 and found that a significant proportion of the patients presented with nonvestibular tumors as the initial presentation, with bilateral cerebellopontine angle lesions being an incidental finding; also, the age of presentation in half of the patients was less than 30 years, and so we can conclude that in young patients with spinal tumors or multiple meningiomas, a thorough evaluation regarding family history and various features of NF2 should be done, so that early identification of the disease could be done and patients can be benefitted from timely interventions.

scholarly journals Role of the neurofibromatosis Type 2 gene in the development of tumors of the nervous system

2005 ◽  
Vol 19 (5) ◽  
pp. 1-5 ◽  
Author(s):  
Martin H. Ruttledge ◽  
Guy A. Rouleau
Keyword(s):  
Nervous System ◽  
Somatic Mutations ◽  
Germ Line ◽  
Large Body ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Sporadic Tumors

Germ line and somatic mutations in the neurofibromatosis Type 2 (NF2) tumor suppressor gene predispose individuals to tumors of the nervous system, including schwannomas and meningiomas. Since identification of the NF2 gene more than a decade ago, a large body of information has been collected on the nature and consequences of these alterations in patients with NF2 and in individuals in whom sporadic tumors associated with NF2 develop. The catalog of mutations identified thus far has facilitated extensive genetic analysis, including studies of patients with mosaicism and phenotype–genotype correlations, and has also led to experiments that have begun to unravel the molecular biology of the NF2 gene and its role in tumorigenesis. The authors describe some of the most significant findings in NF2 genetics and biology over the last decade.

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