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

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

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 Multicenter, Prospective, Phase II and Biomarker Study of High-Dose Bevacizumab as Induction Therapy in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannoma

2019 ◽  
Vol 37 (35) ◽  
pp. 3446-3454 ◽  
Author(s):  
Scott R. Plotkin ◽  
Dan G. Duda ◽  
Alona Muzikansky ◽  
Jeffrey Allen ◽  
Jaishri Blakeley ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Growth Factor ◽  
Phase Ii ◽  
Standard Dose ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
High Dose ◽  
Radiographic Response ◽  
Bevacizumab Treatment

PURPOSE Bevacizumab treatment at 7.5 mg/kg every 3 weeks results in improved hearing in approximately 35%-40% of patients with neurofibromatosis type 2 (NF2) and progressive vestibular schwannomas (VSs). However, the optimal dose is unknown. In this multicenter phase II and biomarker study, we evaluated the efficacy and safety of high-dose bevacizumab in pediatric and adult patients with NF2 with progressive VS. PATIENTS AND METHODS Bevacizumab was given for 6 months at 10 mg/kg every 2 weeks, followed by 18 months at 5 mg/kg every 3 weeks. The primary end point was hearing response defined by word recognition score (WRS) at 6 months. Secondary end points included toxicity, radiographic response, quality of life (QOL), and plasma biomarkers. RESULTS Twenty-two participants with NF2 (median age, 23 years) with progressive hearing loss in the target ear (median baseline WRS, 53%) were enrolled. Nine (41%) of 22 participants achieved a hearing response at 6 months (1 of 7 children and 8 of 15 adults; P = .08). Radiographic response was seen in 7 (32%) of 22 patients with VS at 6 months (7 of 15 adults and 0 of 7 children; P = .05). Common mild to moderate adverse events included hypertension, fatigue, headache, and irregular menstruation. Improvement in NF2-related QOL and reduction in tinnitus-related distress were reported in 30% and 60% of participants, respectively. Paradoxically, high-dose bevacizumab treatment was not associated with a significant decrease in free vascular endothelial growth factor but was associated with increased carbonic anhydrase IX, hepatocyte growth factor, placental growth factor, stromal cell-derived factor 1α, and basic fibroblast growth factor concentrations in plasma. CONCLUSION High-dose bevacizumab seems to be no more effective than standard-dose bevacizumab for treatment of patients with NF2 with hearing loss. In contrast to adults, pediatric participants did not experience tumor shrinkage. However, adult and pediatric participants reported similar improvement in QOL during induction. Novel approaches using bevacizumab should be considered for children with NF2.

Neurofibromatosis II

2014 ◽  
Vol 6 (3) ◽  
pp. 4-6
Author(s):  
Rashmi Sharma ◽  
Parmod Kalsotra ◽  
Rohan Gupta ◽  
Saurabh Gupta ◽  
Nitika Gupta ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Resonance Imaging ◽  
Multiple Neoplasms ◽  
Chief Complaints ◽  
Neurofibromatosis Type Ii ◽  
Whole Spine ◽  
Bilateral Acoustic Neuroma

ABSTRACT Neurofibromatosis type II is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma, and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report, we aim to present a 36-year-old female who presented with chief complaints of unilateral tinnitus, and, during her workup, which included cranial and whole spine magnetic resonance imaging, we found bilateral acoustic neuroma with multiple meningiomas. Based on clinical and imaging findings, the diagnosis of neurofibromatosis type 2 was made.

Schwannomin: new insights into this member of the band 4.1 superfamily

1995 ◽  
Vol 73 (9-10) ◽  
pp. 733-737 ◽  
Author(s):  
Michael J. Belliveau ◽  
Mohini Lutchman ◽  
Jaime O. Claudio ◽  
Claude Marineau ◽  
Guy A. Rouleau
Keyword(s):  
Autosomal Dominant ◽  
Protein Tyrosine Phosphatases ◽  
Neurofibromatosis Type ◽  
Fundamental Question ◽  
Tumour Suppressor ◽  
Nf2 Gene ◽  
Central Nervous System Tumours ◽  
Dominant Disease ◽  
Key Questions

Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by the development of central nervous system tumours. The NF2 gene was recently cloned and found to encode a protein, schwannomin (or merlin), with homology to the band 4.1 superfamily. This superfamily of proteins includes ezrin, moesin, radixin, and talin, as well as several protein tyrosine phosphatases. How does a cytoskeleton-associated protein act as a tumour suppressor? While this fundamental question remains unanswered, recent studies have begun to address key questions regarding the function of schwannomin. In this review, we examine what is known about the band 4.1 superfamily and how this information pertains to schwannomin. In addition, we summarize recent studies of schwannomin itself.Key words: NF2, band 4.1, tumour suppressor, cytoskeleton.

scholarly journals Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

Cancers ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2355
Author(s):  
Isabel Gugel ◽  
Florian Grimm ◽  
Julian Zipfel ◽  
Christian Teuber ◽  
Ulrike Ernemann ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Course ◽  
Age At Onset ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Vestibular Schwannomas ◽  
Speech Discrimination ◽  
Predictive Values ◽  
Presenting Symptoms

The presenting symptoms of the tumor suppressor gene syndrome neurofibromatosis type 2 (NF2) are often non-specific and unrelated to the disease hallmark bilateral vestibular schwannomas (VS). However, age at onset and presenting symptoms may have predictive values for the clinical course of VS. In this retrospective single-center study, we addressed this issue by reviewing 106 patients with 194 VS. Presenting symptoms attributable to VS commonly occur in 87% of adults and 31% of children. Age at onset significantly correlates with tumor volumes at presentation (p = 0.034). In addition, age at onset significantly correlates with pure-tone average (p = 0.0001), speech discrimination scores (p = 0.001), age at beginning of hearing loss (p = 0.0001), age at deafness (p = 0.0001), and age at first surgery (p = 0.0001). Patients presenting with VS related symptoms had significantly (p < 0.05) worse hearing values at presentation and after surgery. These patients also exhibited higher growth rates and tumor volumes compared to patients with non-VS related presenting symptoms, but this difference did not reach the significance level of p < 0.05. Due to the late appearance of these symptoms, the time of beginning hearing loss, surgery and deafness is significantly delayed (p < 0.05) compared to patients not presenting with VS. In summary, age at onset and type of presenting symptom provide excellent prognostic parameters for predicting VS- and hearing-related clinical course.

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