scholarly journals Novel Alternatively Spliced Isoforms of the Neurofibromatosis Type 2 Tumor Suppressor Are Targeted to the Nucleus and Cytoplasmic Granules

1999 ◽  
Vol 8 (8) ◽  
pp. 1561-1570 ◽  
Author(s):  
B. Schmucker ◽  
Y. Tang ◽  
M. Kressel
Keyword(s):  
Tumor Suppressor ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Cytoplasmic Granules ◽  
Alternatively Spliced

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.

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 Tumor Suppressor Protein, NF2, Induces Proteasome-Mediated Degradation of JC Virus T-Antigen in Human Glioblastoma

PLoS ONE ◽  
2013 ◽  
Vol 8 (1) ◽  
pp. e53447 ◽  
Author(s):  
Sarah Beltrami ◽  
Emanuela Branchetti ◽  
Ilker K. Sariyer ◽  
Jessica Otte ◽  
Michael Weaver ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Jc Virus ◽  
Neurofibromatosis Type ◽  
T Antigen ◽  
Neurofibromatosis Type 2 ◽  
Tumor Suppressor Protein ◽  
Human Glioblastoma

Clinical and molecular genetic features of neurofibromatosis type

2021 ◽  
pp. 3-12
Author(s):  
К.О. Карандашева ◽  
Е.С. Макашова ◽  
А.А. Мартьянова ◽  
К.И. Аношкин ◽  
С.В. Золотова ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Binding Sites ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Post Translational Modifications ◽  
Genetic Features

Нейрофиброматоз 2 типа - редкое генетическое заболевание, этиологическим фактором развития которого являются мутации в гене-онкосупрессоре NF2, кодирующем белок мерлин. В обзоре подробно описаны структура, функции и посттрансляционные модификации мерлина, освещены клинические особенности нейрофиброматоза 2 типа, известные клинико-генетические корреляции, а также представлена информация о сайтах связывания мерлина и о функциональном вкладе расположенных в них мутаций, что закладывает базис персонализированной терапии нейрофиброматоза 2 типа. Neurofibromatosis type 2 is a rare genetic disorder caused by pathogenic mutations in the NF2 tumor suppressor gene which encodes a protein called merlin. This review describes the structure, functions, and post-translational modifications of merlin, highlights clinical features and known genotype-phenotype correlations of neurofibromatosis type 2, and provides information on the merlin binding sites and the functional contribution of mutations they harbor, which lays the basis for personalized therapy for neurofibromatosis type 2.

scholarly journals Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis

2021 ◽  
Vol 22 (2) ◽  
pp. 690
Author(s):  
Suha Bachir ◽  
Sanjit Shah ◽  
Scott Shapiro ◽  
Abigail Koehler ◽  
Abdelkader Mahammedi ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Neurofibromatosis Type ◽  
Primary Brain Tumor ◽  
Neurofibromatosis Type 2 ◽  
Vestibular Schwannomas ◽  
Loss Of Function ◽  
Nf2 Gene ◽  
Proliferation And Apoptosis ◽  
Tumor Types

Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas. In NF2, patients have mutations in the NF2 gene, specifically with loss of function in a tumor-suppressor protein that has a number of synonymous names, including: Merlin, Neurofibromin 2, and schwannomin. Merlin is a 70 kDa protein that has 10 different isoforms. The Hippo Tumor Suppressor pathway is regulated upstream by Merlin. This pathway is critical in regulating cell proliferation and apoptosis, characteristics that are important for tumor progression. Mutations of the NF2 gene are strongly associated with NF2 diagnosis, leading to benign proliferative conditions such as vestibular schwannomas and meningiomas. Unfortunately, even though these tumors are benign, they are associated with significant morbidity and the potential for early mortality. In this review, we aim to encompass meningiomas and vestibular schwannomas as they pertain to NF2 by assessing molecular genetics, common tumor types, and tumor pathogenesis.

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