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

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

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 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.

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.

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.

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.

scholarly journals Large Orbital Tumor in a Patient with Neurofibromatosis Type 2

2020 ◽  
pp. 1-3
Author(s):  
Taoufik Abdellaoui ◽  
Taoufik Abdellaoui ◽  
Soukaina Belfaiza ◽  
Yassine Malek ◽  
Fouad Elasri ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Optic Pathway ◽  
Separate Entity ◽  
Nerve Sheath ◽  
Orbital Meningioma

Neurofibromatosis type 2 (NF2) is a separate entity from Neurofibromatosis type 1 (NF1) or von Recklinghausen’s disease, and is much less frequent than NF1. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally. Schwannomas commonly occur on other nerves intracranially and in the spinal compartment, along with meningiomas, ependymomas, and gliomas. Ophthalmologic abnormalities are present in the majority of NF2 patients, including cataracts, retinal changes, optic nerve sheath meningiomas and other optic pathway tumors. These tumors are sometimes large and can induce significant proptosis. We report the case of a large orbital meningioma responsible for severe proptosis in a patient with NF2.

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