Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

1997 ◽  
Vol 100 (1) ◽  
pp. 67-74 ◽  
Author(s):  
H. Kehrer-Sawatzki ◽  
Martin Udart ◽  
Winfrid Krone ◽  
Reinhard Baden ◽  
Raimund Fahsold ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Ring Chromosome ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Nf2 Gene ◽  
Expression Studies

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

2000 ◽  
Vol 107 (4) ◽  
pp. 366-371 ◽  
Author(s):  
Roberta Sestini ◽  
Rossella Vivarelli ◽  
Paolo Balestri ◽  
Franco Ammannati ◽  
Enrico Montali ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Novel Mutations ◽  
Nf2 Gene ◽  
Clinically Normal

Regional fine mapping of the β crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2

1993 ◽  
Vol 8 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Emilia K. Bijlsma ◽  
Olivier Delattre ◽  
Jenneke A. Juyn ◽  
Thomas Melot ◽  
Andries Westerveld ◽  
...  
Keyword(s):  
Fine Mapping ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22

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.

Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients

2011 ◽  
Vol 14 (4) ◽  
pp. 543-547 ◽  
Author(s):  
Scott R. Plotkin ◽  
Caroline C. O'Donnell ◽  
William T. Curry ◽  
Catherine M. Bove ◽  
Mia MacCollin ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Mutational Analysis ◽  
Massachusetts General Hospital ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
High Rate ◽  
Cervical Cord ◽  
Imaging Studies ◽  
Clinical Records

Object The aim of this paper was to define the clinical characteristics of spinal ependymomas associated with neurofibromatosis Type 2 (NF2). Methods The authors retrospectively reviewed the clinical records of patients with NF2 who had imaging findings consistent with ependymomas and were seen at Massachusetts General Hospital between 1994 and 2007. Clinical characteristics of these patients were obtained from hospital records, imaging studies, surgical reports, and pathology reports. Mutational analysis of the NF2 gene was performed in 37 of 44 unrelated patients. Results Fifty-five patients met inclusion criteria for the study. The median age at diagnosis of NF2 was 21 years; the median time after diagnosis until identification of ependymomas was 5 years. Multiple ependymomas were present in 58% of patients. The most common site of involvement was the cervical cord or cervicomedullary junction (86% of imaging studies), followed by the thoracic and lumbar cords (62% and 8%, respectively). The majority of patients had no symptoms related to their tumors (42 patients [76%]). After a median follow-up of 50 months, surgery was performed in 11 patients (20%) for symptomatic progression (indications for surgery). Mutational analysis of the NF2 gene detected alterations in 28 (76%) of 37 unrelated patients, with nonsense and frameshift mutations accounting for 64% of detected mutations. The high rate of truncating mutations may help explain the high tumor burden in these patients. Conclusions Neurofibromatosis Type 2–related ependymomas exhibit an indolent growth pattern with tumor progression limited to a minority of patients. The authors believe that surveillance is reasonable for asymptomatic ependymomas, including those with cystic areas that expand the cord. For symptomatic tumors, resection may be warranted depending on age, overall clinical status, and ease of resectability.

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1996 ◽  
Vol 97 (5) ◽  
pp. 632-637 ◽  
Author(s):  
Lucia Rosaria De Vitis ◽  
Andrea Tedde ◽  
Francesca Vitelli ◽  
Franco Ammannati ◽  
Pasquale Mennonna ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1996 ◽  
Vol 97 (5) ◽  
pp. 632-637 ◽  
Author(s):  
Lucia Rosaria De Vitis ◽  
Andrea Tedde ◽  
Francesca Vitelli ◽  
Franco Ammannati ◽  
Pasquale Mennonna ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

scholarly journals A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus

Genomics ◽  
1992 ◽  
Vol 14 (3) ◽  
pp. 574-584 ◽  
Author(s):  
Kelly A. Frazer ◽  
Michael Boehnke ◽  
Marcia L. Budarf ◽  
Roger K. Wolff ◽  
Beverly S. Emanuel ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Radiation Hybrid ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Radiation Hybrid Map

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene

1995 ◽  
Vol 96 (1) ◽  
pp. 1-5 ◽  
Author(s):  
E. K. Bijlsma ◽  
P. Merel ◽  
P. Fleury ◽  
C. J. van Asperen ◽  
A. Westerveld ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene
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