A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas

1996 ◽  
Vol 110 (7) ◽  
pp. 634-640 ◽  
Author(s):  
W. J. Neary ◽  
V. E. Newton ◽  
S. N. Laoide-Kemp ◽  
R. T. Ramsden ◽  
G. Griffith ◽  
...  
Keyword(s):  
Vestibular Schwannoma ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Clinical Findings ◽  
Neurofibromatosis Type 2 ◽  
Vestibular Schwannomas ◽  
Clinical Genetic ◽  
Lisch Nodules

AbstractNinety-three patients with unilateral vestibular schwannomas were examined in a clinical, genetic and audiological study, to determine whether they had features associated with neurofibromatosis Type 1 or neurofibromatosis Type 2. In 91 families, one patient only was found to be affected with a unilateral vestibular schwannoma. Patients did have a few café-au-lait macules, but fewer than six in number. None of the patients satisfied the cutaneous diagnostic criteria for neurofibromatosis Type 1. Neither Lisch nodules nor presenile posterior subcapsular lenticular opacities or cortical opacities were a feature. Five patients with unilateral vestibular schwannomas are described where the clinical findings raised the possibility of neurofibromatosis Type 2. It is suggested that certain individuals with unilateral vestibular schwannomas are at risk of developing neurofibromatosis Type 2. Furthermore, the possibility of neurofibromatosis Type 2 should be considered if more than one individual in a family is found to be affected with a unilateral vestibular schwannoma.

Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

2019 ◽  
Vol 49 (2) ◽  
pp. 199-219 ◽  
Author(s):  
Shivani Ahlawat ◽  
Jaishri O. Blakeley ◽  
Shannon Langmead ◽  
Allan J. Belzberg ◽  
Laura M. Fayad
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Current Status ◽  
Type 1 Neurofibromatosis

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

1993 ◽  
Vol 107 (1) ◽  
pp. 6-11 ◽  
Author(s):  
W. J. Neary ◽  
V. E. Newton ◽  
M. Vidler ◽  
R. T. Ramsden ◽  
R. H. Lye ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Team Approach ◽  
Clinical Genetic ◽  
Acoustic Neuromas ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Hereditary Disorders

AbstractThe neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of cafe-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades.Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

scholarly journals Clinical Trials Targeting Neurofibromatoses-associated Tumors: A Systematic Review

2022 ◽  
Author(s):  
Gabriel Roman Souza ◽  
Ahmed Abdalla ◽  
Daruka Mahadevan
Keyword(s):  
Systematic Review ◽  
Clinical Trials ◽  
Partial Response ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Clinical Findings ◽  
Surface Receptors ◽  
Associated Tumors

Abstract Background There is a paucity of literature that comprehensively analyzes previous and current clinical trials targeting neurofibromatoses-related tumors. This article aims to provide readers of drug development efforts targeting these tumors by analyzing translational and clinical findings. Methods This systematic review was written according to the PRISMA guidelines. Inclusion criteria were clinical trials involving patients with neurofibromatosis type 1, type 2, or schwannomatosis that were treated with therapies targeting neurofibromatoses-associated tumors and that were registered on clinicaltrials.gov. In addition, a search was performed in PubMed, Web of Science, Google Scholar, and Embase European for articles fully describing these clinical trials. Results A total of 265 clinical trials were registered and screened for eligibility. Ninety-two were included in this systematic review involving approximately 4,636 participants. The number of therapies analyzed was more than 50. Drugs under investigation mainly act on the MAPK/ERK and PI3K/AKT/mTOR pathways, tumor microenvironment, or aberrantly over-expressed cell surface receptors. Selumetinib was the most effective medication for treating a neurofibromatosis type 1-associated tumor with approximately 68-71% partial response for inoperable or progressive plexiform neurofibromas in children 2 years of age and older and bevacizumab for a neurofibromatosis type 2-related tumor with approximately 36-41% partial response for vestibular schwannomas in patients 12 years of age and older. Conclusions This systematic review presents the results of previous clinical investigations and those under development for neurofibromatoses-associated tumors. Clinicians may use this information to strategize patients to appropriate clinical trials.

scholarly journals Neurofibromatosis Type 2 Presenting with Ptosis

1970 ◽  
Vol 21 (2) ◽  
pp. 174-176
Author(s):  
AHM Tohurul Islam ◽  
SR Tarafdar ◽  
T Rahman Sheik
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rectus Muscle ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Subcutaneous Nodules ◽  
Distinct Disease ◽  
Rare Symptom ◽  
Superior Rectus Muscle

Neurofibromatosis type 2 (NF 2), formerly called bilateral Acoustic Neurofibromatosis, is a distinct disease, which must be separated clinically and radiologically from Neurofibromatosis type 1. We presented a case of NF 2 of 20-year-old female presented with a rare symptom, rightsided ptosis due to superior rectus muscle paresis, multiple subcutaneous nodules and hearing impairment. doi: 10.3329/taj.v21i2.3801 TAJ 2008; 21(2): 174-176

scholarly journals 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

2018 ◽  
Vol 176 (5) ◽  
pp. 1258-1269 ◽  
Author(s):  
Michael J. Fisher ◽  
Allan J. Belzberg ◽  
Peter de Blank ◽  
Thomas De Raedt ◽  
Florent Elefteriou ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Type 1 Neurofibromatosis

Gene Discovery Using a Human Vestibular Schwannoma cDNA Library Constructed from a Patient with Neurofibromatosis Type 2 (NF2)

2003 ◽  
Vol 128 (3) ◽  
pp. 364-371 ◽  
Author(s):  
Stacey L. Halum ◽  
Christy B. Erbe ◽  
David R. Friedland ◽  
Phillip A. Wackym
Keyword(s):  
Cdna Library ◽  
Vestibular Schwannoma ◽  
Molecular Mechanisms ◽  
Neurofibromatosis Type ◽  
Genetic Alterations ◽  
Neurofibromatosis Type 2 ◽  
Vestibular Schwannomas ◽  
Gene Transcript ◽  
Transcript Expression

BACKGROUND: Despite a strong association of schwannomin/merlin gene mutations with vestibular schwannoma formation, the regulatory mechanisms and biologic pathways involved are still largely unknown. The hypothesis of this study is that the genesis and growth characteristics of neurofibromatosis type 2 (NF2)-associated vestibular schwannomas are determined by genetic alterations that vary in gene transcript expression; this transcript expression includes oncogenic gene products that may be identified by construction and sequencing of a cDNA library from NF2-associated vestibular schwannoma. METHODS: Approximately 3 mL of fresh tumor was obtained during resection of a 4-cm vestibular schwannoma from a patient with NF2. Poly(A)+ mRNA was isolated, synthesized into double-stranded cDNA, and unidirectionally inserted into Uni-Zap XR (Stratagene, La Jolla, CA) bacteriophage vectors. Bacteriophage vectors containing cDNA inserts were processed into phagemids according to Uni-Zap XR protocol, and inserted vectors were sequenced and analyzed using BLAST software (National Institutes of Health, Bethesda, MD) with GenBank, EMBL, DDBJ, and PBD databases. RESULTS: The cDNA library contained 2.4 million primary plaques. Inserts averaged 1.8 kilobases (kb) in length, with a range of 0.8 to 3.0 kb. BLAST multi-database comparison of the sequence data obtained from 50 randomly selected clones yielded identification of 13 sequences representing known human genes and 17 sequences representing cloned sequences with unknown function. Three clones represented sequences not previously described in vestibular schwannomas but strongly implicated in oncogenesis within other tissues. CONCLUSIONS: These data have implications for understanding the molecular mechanisms of vestibular schwannoma tumor biology. Identified genes may provide future diagnostic/prognostic markers and therapeutic targets.

Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2

1991 ◽  
Vol 74 (2) ◽  
pp. 248-253 ◽  
Author(s):  
Andrea L. Halliday ◽  
Raymond A. Sobel ◽  
Robert L. Martuza
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Spinal Nerve ◽  
Neurofibromatosis Type 2 ◽  
Content Type ◽  
Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Fine Print

✓ Benign spinal nerve sheath tumors (neurofibromas and schwannomas) often occur on dorsal nerve roots sporadically or in neurofibromatosis types 1 and 2. These are histologically benign tumors, and distinction between them is frequently not made by clinicians. To determine if there is a correlation between the histological pattern of benign spinal nerve sheath tumors and the type of neurofibromatosis, the clinical and pathological features of these tumors (86 surgical specimens and five autopsies) in 68 patients were reviewed. The patients were classified into one of four categories: neurofibromatosis type 1, neurofibromatosis type 2, uncertain, or sporadic. The diagnostic criteria used for neurofibromatosis types 1 and 2 were established by the National Institutes of Health. Patients who did not fulfill criteria for either neurofibromatosis type 1 or 2 but who had multiple nervous system tumors or other stigmata of neurofibromatosis were designated “uncertain.” Spinal nerve sheath tumors were considered sporadic in 42 cases (40 schwannomas and two neurofibromas). In the 14 patients with neurofibromatosis type 1, all spinal nerve sheath tumors were neurofibromas. In six of the seven patients with neurofibromatosis type 2, all spinal nerve sheath tumors were schwannomas. One patient with neurofibromatosis type 2 had a spinal nerve sheath schwannoma and a tumor with features of both tumor types. The authors conclude that spinal nerve sheath tumors in patients with neurofibromatosis type 1 are neurofibromas. In contrast, spinal nerve sheath tumors occurring in neurofibromatosis type 2 or sporadically are most frequently schwannomas. The distinct histological features of these tumors may reflect different pathogenetic mechanisms even though they arise at identical sites in neurofibromatosis types 1 and 2.

scholarly journals Targeted Therapies for the Neurofibromatoses

Cancers ◽  
2021 ◽  
Vol 13 (23) ◽  
pp. 6032
Author(s):  
Lauren D. Sanchez ◽  
Ashley Bui ◽  
Laura J. Klesse
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
The Past ◽  
Therapeutic Trials ◽  
Nerve Sheath

Over the past several years, management of the tumors associated with the neurofibromatoses has been recognized to often require approaches that are distinct from their spontaneous counterparts. Focus has shifted to therapy aimed at minimizing symptoms given the risks of persistent, multiple tumors and new tumor growth. In this review, we will highlight the translation of preclinical data to therapeutic trials for patients with neurofibromatosis, particularly neurofibromatosis type 1 and neurofibromatosis type 2. Successful inhibition of MEK for patients with neurofibromatosis type 1 and progressive optic pathway gliomas or plexiform neurofibromas has been a significant advancement in patient care. Similar success for the malignant NF1 tumors, such as high-grade gliomas and malignant peripheral nerve sheath tumors, has not yet been achieved; nor has significant progress been made for patients with either neurofibromatosis type 2 or schwannomatosis, although efforts are ongoing.

Neurocutaneous Disorders

2021 ◽  
pp. 1077-1091
Author(s):  
Gesina F. Keating
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Organ Systems ◽  
Neurocutaneous Disorder ◽  
Neurologic Findings

Neurocutaneous disorders, formerly called phakomatoses, are characterized by cutaneous and neurologic findings. Many are genetic, but some are sporadic. Often these disorders affect other organ systems as well and require lifetime surveillance for complications. Neurofibromatosis type 1 is the most common neurocutaneous disorder. With a prevalence of approximately 1 in 3,000 persons, it is more than 10 times more common than neurofibromatosis type 2.

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