2,669 results match your criteria Neurofibromatosis Type 2

Dysregulation of the ESRP2-NF2-YAP/TAZ axis promotes hepatobiliary carcinogenesis in non-alcoholic fatty liver disease.

J Hepatol 2021 May 5. Epub 2021 May 5.

Department of Medicine, Duke University, Duke University Health System, Durham, NC, USA. Electronic address:

Background & Aims: Nonalcoholic Fatty Liver Disease (NAFLD), the hepatic correlate of the metabolic syndrome, is a major risk factor for hepatobiliary cancer (HBC). Although chronic inflammation is thought to be the root cause of all these diseases, the mechanism whereby it promotes HBC in NAFLD remains poorly understood. Here we aim to evaluate the hypothesis that inflammation-related dysregulation of the ESRP2-NF2-YAP/TAZ axis promotes HB carcinogenesis. Read More

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Imaging of Tumor Syndromes.

Radiol Clin North Am 2021 May;59(3):471-500

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA. Electronic address:

Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Read More

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Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.

Cancers (Basel) 2021 Apr 14;13(8). Epub 2021 Apr 14.

Institute of Human Genetics, Medical Faculty, University Duisburg-Essen, 45122 Essen, Germany.

Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013-2018 in Germany and Austria were collected in a multicenter prospective observational study. Read More

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Identifying challenges in neurofibromatosis: a modified Delphi procedure.

Eur J Hum Genet 2021 Apr 26. Epub 2021 Apr 26.

Department of General Paediatrics, Sophia's Children's Hospital, Rotterdam, The Netherlands.

Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are rare conditions with pronounced variability of clinical expression. We aimed to reach consensus on the most important manifestations meriting the development of drug trials. The five-staged modified Delphi procedure consisted of two questionnaires and a consensus meeting for 40 NF experts, a survey for 63 patient representatives, and a final workshop. Read More

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Differences in the expression of SSTR1-5 in meningiomas and its therapeutic potential.

Neurosurg Rev 2021 Apr 26. Epub 2021 Apr 26.

Center for CNS Tumors, Comprehensive Cancer Center Tübingen-Stuttgart, University Hospital Tübingen, Eberhard Karls University, Tübingen, Germany.

Beyond microsurgical resection and radiation therapy, there are currently no established treatment alternatives for meningioma patients. In selected cases, peptide radio receptor therapy (PRRT) can be implemented. For this purpose, a radionuclide is bound to a substance targeting specific receptors in meningiomas. Read More

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Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome.

Surg Neurol Int 2021 17;12:99. Epub 2021 Mar 17.

Department of Neurosurgery, Yale University School of Medicine, 20 York Street, LCI 8, New Haven, Connecticut, United States.

Background: While meningiomas are some of the most common intracranial tumors, the presence of multiple ones at the time of presentation is rare and can most commonly be observed in patients with well-described syndromes (i.e., neurofibromatosis type 2) or those with prior cranial radiation history. Read More

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Small Molecule Inhibitors of TEAD Auto-palmitoylation Selectively Inhibit Proliferation and Tumor Growth of NF2-deficient Mesothelioma.

Mol Cancer Ther 2021 Apr 13. Epub 2021 Apr 13.

Vivace Therapeutics.

Mutations in the neurofibromatosis type 2 (NF2) gene that limit or abrogate expression of functional Merlin are common in malignant mesothelioma. Merlin activates the Hippo pathway to suppress nuclear translocation of YAP and TAZ, the major effectors of the pathway that associate with the TEAD transcription factors in the nucleus and promote expression of genes involved in cell proliferation and survival. Here we described the discovery of compounds that selectively inhibit YAP/TAZ-TEAD promoted gene transcription, block TEAD auto-palmitoylation, and disrupt interaction between YAP/TAZ and TEAD. Read More

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Combined hamartoma of the retina and retinal pigment epithelium - MRI features of a rare paediatric intraocular tumour.

BJR Case Rep 2021 Apr 17;7(2):20200077. Epub 2020 Nov 17.

Department of Ophthalmology, Kantonsspital St. Gallen, Rorschacher Strasse 95, 9007 St. Gallen, Switzerland.

Combined hamartoma of the retina and retinal pigment epithelium is a rare benign ocular tumour in children, composed of glial cells, vascular tissue, and sheets of pigmented epithelial cells. Although generally thought to be congenital, acquired cases are known to exist. It usually presents with reduced visual acuity and/or strabismus and it can be associated with several syndromes, including Neurofibromatosis Type 2. Read More

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Plexiform Neurofibroma Without Neurofibromatosis Type 1.

Acta Dermatovenerol Croat 2020 Dec;28(7):245-246

Professor Uwe Wollina, MD, Department of Dermatology and Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Friedrichtstrasse 41, 01067 Dresden, Germany;

Dear Editor, Plexiform neurofibroma (PNF) is a particular subtype of benign nerve sheath tumors with a reticular growth pattern not respecting tissue borders and involving several nerve branches or fascicles. It is most commonly reported in patients with neurofibromatosis type-1 (NF-1) and represents in up to 30% of NF-1 patients (1,2). Other possible associations include schwannomatosis, multiple cutaneous schwannomas syndrome, and rarely neurofibromatosis type-2 (NF-2) (3). Read More

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December 2020

Peptide Receptor Radionuclide Therapy in Patients With Neurofibromatosis Type 2: Initial Experience.

Clin Nucl Med 2021 06;46(6):e312-e316

Department of Neurosurgery.

Purpose: Neurofibromatosis type 2 (NF2) is a genetic disorder that is associated with multiple tumors of the nervous system, and approximately one half of patients present with meningiomas. For patients with multifocal disease, somatostatin receptor-targeted peptide receptor radionuclide therapy (PRRT) might be a suitable systemic treatment option.

Patients And Methods: Between March 2015 and August 2017, 11 NF2 patients (7 females and 4 males; mean age, 39 ± 12 years) with multifocal, progressive meningiomas underwent a median of 4 cycles of PRRT (range, 2-6 cycles). Read More

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Cystic schwannoma of the distal forearm. Case presentation.

Rom J Morphol Embryol 2020 Jul-Sep;61(3):911-916

Department of Morpho-Functional Sciences I, Grigore T. Popa University of Medicine and Pharmacy, Iaşi, Romania;

Schwannomas are well-encapsulated, benign tumors arising from Schwann cell constituting the nerve sheaths. We report a case of a cystic conventional schwannoma, measuring 2.5×3 cm, located in the distal forearm of a 33-year-old female patient with no sign of neurofibromatosis type 2 or type 3. Read More

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Risk Stratification for Immediate Postoperative Hearing Loss by Preoperative BAER (Brainstem Auditory Evoked Response) and Audiometry in NF2-Associated Vestibular Schwannomas.

Cancers (Basel) 2021 Mar 18;13(6). Epub 2021 Mar 18.

Department of Neurosurgery and Neurotechnology, University Hospital Tübingen, BW 72076 Tübingen, Germany.

Both brainstem auditory evoked potentials (BAEP) and audiometry play a crucial role in neuro-oncological treatment decisions in Neurofibromatosis Type 2 associated (NF2) vestibular schwannoma (VS) as hearing preservation is the major goal. In this study, we investigated the risk of immediate postoperative hearing deterioration (>15 dB and/or 15% loss in pure-tone average [PTA]/ speech discrimination score [SDS] in a cohort of 100 operated VS (ears) in 72 NF2 patients by retrospective analysis of pre- and postoperative hearing data (PTA, SDS, American Association of Otolaryngology-Head and Neck Surgery [AAO-HNS], and brainstem auditory evoked potential [BAEP] class) taking into account relevant influencing factors, particularly preoperative audiometry and BAEP status and the extent of resection. Immediately after surgery, the hearing was preserved in 73% of ears and approximately ~60% of ears kept their hearing classes. Read More

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A Prospective Evaluation of Swallowing and Speech in Patients with Neurofibromatosis Type 2.

J Neurol Surg B Skull Base 2021 Apr 18;82(2):244-250. Epub 2019 Sep 18.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, Maryland, United States.

 Neurofibromatosis type 2 (NF2) patients report that swallowing and speech problems significantly affect their quality of life, but the etiology of these phenomena is poorly understood. Swallowing and speech deficits may arise due to the neuropathy of involved nerves, due to posterior fossa tumor growth, or as iatrogenic effects from neurosurgical procedures to remove these tumors. This study aims to identify the natural history of swallowing and speech deficits in an NF2 cohort and to characterize the factors that may lead to those deficits. Read More

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Bevacizumab as a surgery-sparing agent for spinal ependymoma in patients with neurofibromatosis type II: Systematic review and case.

J Clin Neurosci 2021 Apr 1;86:79-84. Epub 2021 Feb 1.

Department of Neurological Surgery, University of Virginia Health System, Charlottesville, VA, USA.

Neurofibromatosis type 2 (NF2) is a rare, hereditary tumor syndrome, often requiring repeated surgeries for multiple lesions with significant cumulative morbidity. As such, non-operative management should be considered when possible for this patient population. The aim of this study is to provide a systematic review of the literature regarding this treatment strategy. Read More

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Crispr/Cas-based modeling of NF2 loss in meningioma cells.

J Neurosci Methods 2021 May 19;356:109141. Epub 2021 Mar 19.

Department of Neuropathology, Otto-von-Guericke-University, Germany; Center for Behavioral Brain Studies (CBBS), 39120, Magdeburg, Germany. Electronic address:

Background: Alterations of the neurofibromatosis type 2 gene (NF2) occur in more than fifty percent of sporadic meningiomas. Meningiomas develop frequently in the setting of the hereditary tumor syndrome NF2. Investigation of potential drug-based treatment options has been limited by the lack of appropriate in vitro and in vivo models. Read More

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Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma: Another Provisional Entity Emerging From the Papillary Renal Cell Carcinoma Pandora's Box.

Int J Surg Pathol 2021 Mar 17:1066896921998435. Epub 2021 Mar 17.

137869University of Florida College of Medicine Jacksonville, Jacksonville, Florida, USA.

Papillary renal cell carcinoma (especially type 2) is a Pandora's box with many newly described renal cell carcinomas emerging from it as a result of enhanced molecular techniques. Biphasic hyalinizing psammomatous renal cell carcinoma (BHPRCC) is the latest addition, which was first described a few months ago. Here, we report a case of BHPRCC to supplement the very limited literature available about this entity, and to highlight the characteristic morphology as well as the recurring molecular alterations in the neurofibromatosis 2 gene. Read More

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Extended Middle Cranial Fossa Approach for Placement of Auditory Brainstem Implants.

Otol Neurotol 2021 Mar 11. Epub 2021 Mar 11.

Department of Otolaryngology-Head and Neck Surgery Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, Ohio.

Objective: Traditionally, auditory brainstem implants (ABIs) have been placed via the translabyrinthine or retrosigmoid approaches. In select patients, a modified extended middle cranial fossa (xMCF) approach with tentorial ligation may be advantageous for vestibular schwannoma (VS) resection and auditory rehabilitation. This manuscript describes the application of this modification of the MCF approach for simultaneous VS resection and ABI placement. Read More

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Cochlear Implantation in NF2 Patients Without Intracochlear Schwannoma Removal.

Otol Neurotol 2021 Mar 5. Epub 2021 Mar 5.

Emmeline Centre Department of Skull Based Surgery Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Objective: To determine if cochlear implantation without removal of inner ear schwannomas (IES) is an effective treatment option for Neurofibromatosis 2 (NF2) patients. To determine how the presence of an intracochlear schwannoma might impact cochlear implant (CI) outcomes and programming parameters.

Study Design: Retrospective chart review. Read More

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A giant posterior mediastinal malignant peripheral nerve sheath tumor and benign neurofibroma in body surface: a case report.

BMC Surg 2021 Mar 10;21(1):128. Epub 2021 Mar 10.

Department of Thoracic Surgery, The First Hospital of Jilin University, 71 Xinmin Street, Changchun, 130021, Jilin, China.

Background: Neurofibromatosis comprises neurofibromatosis type 1 (NF1) and type 2 (NF2). Major tumor type of NF1 are neurofibroma recognized as benign peripheral nerve tumor, malignant peripheral nerve sheath tumor (MPNST), and glioma.

Case Presentation: We report a woman with a special condition, whose tumors in body surfaces were benign neurofibroma and tumors in posterior mediastinum are MPNST. Read More

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Alert Cards to improve awareness of an otological emergency.

BMJ Open Qual 2021 Feb;10(1)

Neurofibromatosis 2 Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

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February 2021

Chrysophanol inhibits the osteoglycin/mTOR and activats NF2 signaling pathways to reduce viability and proliferation of malignant meningioma cells.

Bioengineered 2021 Dec;12(1):755-762

Department of Neurosurgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Chrysophanol shows promising antitumor activity, but how it may work against malignant meningioma is poorly understood. In addition, osteoglycin (OGN) may help mediate the antitumor effects of chrysophanol; thus, this study investigated the potential antitumor mechanism of chrysophanol in malignant meningioma cultures. Meningioma cell line HBL-52 were incubated with varying doses of chrysophanol (0-90 μM) for different time points, and osteoglycin (OGN) was overexpressed or inhibited in some cell cultures to assess its roles. Read More

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December 2021

Intracranial metastasis from a malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1: A case study and literature review.

Clin Neurol Neurosurg 2021 Apr 2;203:106540. Epub 2021 Feb 2.

Midwest Neurosurgery Associates, 2330 E Meyer Blvd, Ste 411, Kansas City, MO 64132, United States. Electronic address:

Introduction: Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are a rare type of soft tissue sarcoma. While these tumors often metastasize, intracranial metastases of MPNSTs have only been rarely noted.

Methods: Using Pubmed, Google Scholar, and Science Direct we conducted a systematic review of the literature to identify all reported cases of MPNSTs with metastases to the brain since the inception of these databases through January 2020. Read More

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One-stage multiple posterior column osteotomies and fusion and pre-op halo-gravity traction may result in a comparative and safer correction of complex spine deformity than vertebral column resection.

Spine Deform 2021 Feb 18. Epub 2021 Feb 18.

FOCOS Orthopedic Hospital, Accra, Ghana.

Study Design: A retrospective review of prospectively collected from patients recruited at a single center.

Purpose: To test whether safe and optimal correction can be obtained with preoperative halo-gravity traction and posterior spinal fusion with adjunctive procedures but without VCR. Posterior vertebral column resection(VCR) is gaining popularity for correction of severe spinal deformity. Read More

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February 2021

New developments in neurofibromatosis type 2 and vestibular schwannoma.

Neurooncol Adv 2021 Jan-Dec;3(1):vdaa153. Epub 2020 Nov 16.

Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts, USA.

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder characterized by the development of multiple nervous system tumors due to mutation in the tumor suppressor gene. The hallmark feature of the NF2 syndrome is the development of bilateral vestibular schwannomas (VS). Although there is nearly 100% penetrance by 60 years of age, some patients suffer from a severe form of the disease and develop multiple tumors at an early age, while others are asymptomatic until later in life. Read More

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November 2020

Diagnostic Pathology of Tumors of Peripheral Nerve.

Neurosurgery 2021 02;88(3):443-456

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Neoplasms of the peripheral nervous system represent a heterogenous group with a wide spectrum of morphological features and biological potential. They range from benign and curable by complete excision (schwannoma and soft tissue perineurioma) to benign but potentially aggressive at the local level (plexiform neurofibroma) to the highly malignant (malignant peripheral nerve sheath tumors [MPNST]). In this review, we discuss the diagnostic and pathologic features of common peripheral nerve sheath tumors, particularly those that may be encountered in the intracranial compartment or in the spine and paraspinal region. Read More

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February 2021

Meningioma: A Pathology Perspective.

Neurosurgery 2021 Feb 15. Epub 2021 Feb 15.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.

Meningiomas are dural-based neoplasms that account for ∼37% of all intracranial tumors in the adult population. They can occur anywhere within the central nervous system and have a predilection for females. The World Health Organization classifies meningiomas into 3 grades based on increased risk of recurrence and associated mortality in grade III tumors. Read More

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February 2021

Rationale and Design of BeatNF2 Trial: A Clinical Trial to Assess the Efficacy and Safety of Bevacizumab in Patients with Neurofibromatosis Type 2 Related Vestibular Schwannoma.

Curr Oncol 2021 Jan 31;28(1):726-739. Epub 2021 Jan 31.

Department of Neurosurgery, Fukushima Medical University, Fukushima 960-1247, Japan.

Neurofibromatosis type 2 (NF2) causes bilateral vestibular schwannomas (VSs), leading to deafness. VS is treated by surgery or radiation, but neither treatments prevent hearing loss. Bevacizumab was found to be effective in suppressing the tumor's growth and may help to improve hearing. Read More

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January 2021

Intracanalicular Vestibular Schwannoma: A Systematic Review and Meta-analysis of Therapeutics Outcomes.

Otol Neurotol 2021 03;42(3):351-362

Department of Otolaryngology, Head and Neck Surgery, Faculty of Medicine and Health Sciences, Macquarie University.

Objective: To perform a systematic review and meta-analysis summarizing the current evidence on the management of intracanalicular vestibular schwannoma.

Data Sources: Embase (1947-), Medline (1946-), Cochrane library (1947-), Scopus (2010-), and CINAHL (1961-) were searched from 1969 to October 5, 2019 (50 years).

Study Selection: A search strategy was performed to identify patients with vestibular schwannoma confined to the internal auditory canal without extension to the cerebellopontine angle. Read More

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Bilateral Vestibular Schwannomas in a Patient with Ring Chromosome 22: Case Report and Review of the Literature.

Pediatr Neurosurg 2021 5;56(1):56-60. Epub 2021 Feb 5.

Department of Neurosurgery, National Brain Aneurysm & Tumor Center, United Hospital, Saint Paul, Minnesota, USA,

Introduction: Ring chromosome 22 (r[22]) can lead to the development of intracranial tumors such as meningiomas, neurofibromas, and schwannomas similar to neurofibromatosis 2 (NF2).

Case Presentation: An 18-year-old female with r(22) and a history of global development delay and cognitive impairment presented with sudden hearing loss. MRI revealed bilateral vestibular schwannomas. Read More

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February 2021