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.

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.

Neurofibromatosis type 2: growth stimulation of mixed acoustic schwannoma by concurrent adjacent meningioma: possible role of growth factors

1998 ◽  
Vol 89 (1) ◽  
pp. 149-154 ◽  
Author(s):  
Roberto Pallini ◽  
Angelo Tancredi ◽  
Patrizia Casalbore ◽  
Delio Mercanti ◽  
Luigi M. Larocca ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Growth Stimulation ◽  
Neurofibromatosis Type 2 ◽  
Annual Growth Rate ◽  
Content Type ◽  
Acoustic Schwannoma ◽  
Epidermal Growth ◽  
The One

✓ The authors report the case of a young man suffering from neurofibromatosis type 2 (NF2) who harbored bilateral acoustic schwannomas and a parasellar meningioma. Neuroimaging studies performed during a 4-year follow-up period showed that the bilateral schwannomas had grown very little and at similar rates. However, after the meningioma had infiltrated the tentorium and approached the ipsilateral schwannoma at the incisura, both Schwann cell tumors started to grow rapidly, particularly the one adjacent to the meningioma, of which the percentage of annual growth rate increased by approximately a factor of 102. At the same time, magnetic resonance imaging showed that this tumor also changed its features. During surgery, the acoustic schwannoma was firmly adherent to both meningioma and tentorium. Histological examination revealed meningotheliomatous cells in the schwannoma adjacent to the meningioma. Antiphosphotyrosine immunoblotting of PC12 cells was compatible with the presence of an epidermal growth factor (EGF)—like molecule in the cerebrospinal fluid (CSF) of the patient. This factor was not detected in the CSF of five other NF2 patients, two of whom bore associated bilateral acoustic schwannomas and meningioma in remote locations. It is hypothesized that the meningotheliomatous cells infiltrating the schwannoma triggered an autocrine/paracrine growth—stimulatory mechanism that involved an EGF-like factor.

Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas

1995 ◽  
Vol 95 (3) ◽  
pp. 347-351 ◽  
Author(s):  
Laura Papi ◽  
Lucia Rosaria De Vitis ◽  
Francesca Vitelli ◽  
Enrico Montali ◽  
Umberto Bigozzi ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2

scholarly journals Combined translabyrinthine, anterior petrosal approach for resection of collision vestibular schwannoma and petrous apex meningioma in neurofibromatosis type 2, with auditory brainstem implant placement

2021 ◽  
Vol 5 (2) ◽  
pp. V17
Author(s):  
Usman A. Khan ◽  
Jillian H. Plonsker ◽  
Rick A. Friedman ◽  
Marc S. Schwartz
Keyword(s):  
Vestibular Schwannoma ◽  
Neurofibromatosis Type ◽  
Auditory Brainstem ◽  
Neurofibromatosis Type 2 ◽  
Petrous Apex ◽  
Surgical Decision ◽  
Implant Placement ◽  
History Of ◽  
Sporadic Tumors

The natural history of neurofibromatosis type 2 (NF2) is profound bilateral hearing loss. The decision to pursue microsurgery may be more complicated in NF2 than with sporadic tumors. Schwannomas in NF2 often occur with other skull base tumors. Treatment should be tailored to preserve auditory perception for as long as possible. The authors present the case of a man with NF2 and a vestibular schwannoma who has poor hearing on the same side as a large petrous apex meningioma, both opposite to a well-hearing ear. This case highlights surgical decision-making and technical nuances during resection of collision tumors in NF2. The video can be found here: https://stream.cadmore.media/r10.3171/2021.7.FOCVID21130

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

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 Brief report on similar mutational changes in neurofibromatosis type 2 gene in minute pulmonary meningothelial-like nodule and meningioma of the central nervous system

Oncotarget ◽  
2018 ◽  
Vol 9 (89) ◽  
pp. 36012-36016
Author(s):  
Mitsunori Higuchi ◽  
Masayuki Watanabe ◽  
Takuya Inoue ◽  
Takumi Yamaura ◽  
Tomoko Suzuki ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
The Central Nervous System

scholarly journals Long-term Follow-up and Histological Correlation of Peripheral Nervous System Alterations in Neurofibromatosis Type 2

2021 ◽  
Author(s):  
Tim Godel ◽  
Philipp Bäumer ◽  
Said Farschtschi ◽  
Klaus Püschel ◽  
Barbara Hofstadler ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nerve ◽  
Peripheral Nervous System ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nerve Lesions ◽  
Peripheral Nerve Lesions

Abstract Purpose To examine long-term alterations of the dorsal root ganglia (DRG) and the peripheral nerve in patients with neurofibromatosis type 2 (NF2) by in vivo high-resolution magnetic resonance neurography (MRN) and their correlation to histology. Methods In this prospective study the lumbosacral DRG, the right sciatic, tibial, and peroneal nerves were examined in 6 patients diagnosed with NF2 and associated polyneuropathy (PNP) by a standardized MRN protocol at 3 T. Volumes of DRG L3–S2 as well as peripheral nerve lesions were assessed and compared to follow-up examinations after 14–100 months. In one patient, imaging findings were further correlated to histology. Results Follow-up MRN examination showed a non-significant increase of volume for the DRG L3: +0.41% (p = 0.10), L4: +22.41% (p = 0.23), L5: +3.38% (p = 0.09), S1: +10.63% (p = 0.05) and S2: +1.17% (p = 0.57). Likewise, peripheral nerve lesions were not significantly increased regarding size (2.18 mm2 vs. 2.15 mm2, p = 0.89) and number (9.00 vs. 9.33, p = 0.36). Histological analyses identified schwannomas as the major correlate of both DRG hyperplasia and peripheral nerve lesions. For peripheral nerve microlesions additionally clusters of onion-bulb formations were identified. Conclusion Peripheral nervous system alterations seem to be constant or show only a minor increase in adult NF2. Thus, symptoms of PNP may not primarily attributed to the initial schwannoma growth but to secondary long-term processes, with symptoms only occurring if a certain threshold is exceeded. Histology identified grouped areas of Schwann cell proliferations as the correlate of DRG hyperplasia, while for peripheral nerve lesions different patterns could be found.

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