2,554 results match your criteria Neurofibromatosis Type 2


Validation of a scoring system to evaluate the risk of rapid growth of intracranial meningiomas in neurofibromatosis type 2 patients.

J Neurosurg 2020 May 22:1-9. Epub 2020 May 22.

1Department of Neurosurgery and.

Objective: Intracranial meningiomas occur in about half of neurofibromatosis type 2 (NF2) patients and are very frequently multiple. Thus, estimating individual meningiomas' growth rates is of great interest to tailor therapeutic interventions. The Asan Intracranial Meningioma Scoring System (AIMSS) has recently been published to estimate the risk of tumor growth in sporadic meningiomas. Read More

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http://dx.doi.org/10.3171/2020.3.JNS192382DOI Listing

In vitro effect of Dovitinib (TKI258), a multi-target angiokinase inhibitor on aggressive meningioma cells.

Cancer Invest 2020 May 22:1-14. Epub 2020 May 22.

Department of Neurosurgery and MUSC Brain & Spine Tumor Program, Medical University of South Carolina, Charleston, SC.

Meningiomas represent ∼30% of primary central nervous system (CNS) tumors. Although advances in surgery and radiotherapy have significantly improved survival, there remains an important subset of patients whose tumors have more aggressive behavior and are refractory to conventional therapy. Recent advances in molecular genetics and epigenetics suggest that this aggressive behavior may be due to the deletion of the DNA repair and tumor suppressor gene, neurofibromatosis Type 2 (NF2) mutation on chromosome 22q12, and genetic abnormalities in multiple RTKs including FGFRs. Read More

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http://dx.doi.org/10.1080/07357907.2020.1773844DOI Listing

Effects of Neurod1 Expression on Mouse and Human Schwannoma Cells.

Laryngoscope 2020 May 21. Epub 2020 May 21.

Department of Otolaryngology, University of Lowa, Lowa City, Lowa, U.S.A.

Objectives: The objective was to explore the effect of the proneuronal transcription factor neurogenic differentiation 1 (Neurod1, ND1) on Schwann cells (SC) and schwannoma cell proliferation.

Methods: Using a variety of transgenic mouse lines, we investigated how expression of Neurod1 effects medulloblastoma (MB) growth, schwannoma tumor progression, vestibular function, and SC cell proliferation. Primary human vestibular schwannoma (VS) cell cultures were transduced with adenoviral vectors expressing Neurod1. Read More

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http://dx.doi.org/10.1002/lary.28671DOI Listing

DECOMPENSATION OF A THORACIC MENINGIOMA BELOW THE OPERATED LEVEL: A DRAMATIC AND UNEXPECTED COMPLICATION.

World Neurosurg 2020 May 7. Epub 2020 May 7.

Neurosurgical Department, Lariboisière Hospital, Paris, France; Université Paris Diderot, Paris, France.

Background: Paraplegia following lumbar spinal surgery have been previously described. It was generally provoked by a "missed" thoracic compression due to degenerative processes, arachnoid cyst and spinal cord tumor such as meningiomas. We describe here a case of NF-2 patient with multiple spinal meningiomas that developed a post-operative paraplegia due to decompensation of spinal cord compression below and far from the operated level. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.04.221DOI Listing

Author Correction: A VEGF receptor vaccine demonstrates preliminary efficacy in neurofibromatosis type 2.

Nat Commun 2020 Apr 21;11(1):2028. Epub 2020 Apr 21.

Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

An amendment to this paper has been published and can be accessed via a link at the top of the paper. Read More

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http://dx.doi.org/10.1038/s41467-020-16007-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174327PMC

Merlin regulates signaling events at the nexus of development and cancer.

Cell Commun Signal 2020 Apr 16;18(1):63. Epub 2020 Apr 16.

Department of Pathology, University of Alabama at Birmingham, WTI 320D, 1824 6th Avenue South, Birmingham, AL, 35233, USA.

Background: In this review, we describe how the cytoskeletal protein Merlin, encoded by the Neurofibromin 2 (NF2) gene, orchestrates developmental signaling to ensure normal ontogeny, and we discuss how Merlin deficiency leads to aberrant activation of developmental pathways that enable tumor development and malignant progression.

Main Body: Parallels between embryonic development and cancer have underscored the activation of developmental signaling pathways. Hippo, WNT/β-catenin, TGF-β, receptor tyrosine kinase (RTK), Notch, and Hedgehog pathways are key players in normal developmental biology. Read More

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http://dx.doi.org/10.1186/s12964-020-00544-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164249PMC

Intraneural perineurioma in neurofibromatosis type 2 with molecular analysis.

Clin Neuropathol 2020 Apr 9. Epub 2020 Apr 9.

Intraneural perineuriomas are rare benign neoplasms. The gene associated with neurofibromatosis 2 (NF2) is located on chromosome 22q12, and mutations in are commonly seen in soft tissue perineuriomas. However, an association between mutations and intraneural perineuriomas (INPs) has not been well established. Read More

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http://dx.doi.org/10.5414/NP301245DOI Listing

Plexiform Schwannoma of the Oral Cavity: Report of Eight Cases and a Review of the Literature.

Head Neck Pathol 2020 Apr 8. Epub 2020 Apr 8.

Department of Diagnostic Sciences, Texas A&M University College of Dentistry, Dallas, USA.

Plexiform schwannoma represents an unusual schwannoma variant, characterized by multinodular growth grossly and/or microscopically. A review of the English-language literature reveals only 28 previously reported cases involving the oral cavity, and herein we present 8 additional cases. Among these 36 patients, the average age at diagnosis was 28 years (range 5 to 62 years), with a female-to-male ratio of 1. Read More

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http://dx.doi.org/10.1007/s12105-020-01159-7DOI Listing

Polo-like kinase 1 as a therapeutic target for malignant peripheral nerve sheath tumors (MPNST) and schwannomas.

Am J Cancer Res 2020 1;10(3):856-869. Epub 2020 Mar 1.

Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania Philadelphia, PA 19104, USA.

Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are two dominantly inherited disorders that cause tumors in Schwann cells. NF1 patients have a high risk for malignant peripheral nerve sheath tumors (MPNST), which are often inoperable and do not respond well to current chemotherapies or radiation. NF2 patients have a high risk for schwannomas. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136923PMC
March 2020
3.968 Impact Factor

Clinical features of newly developed NF2 intracranial meningiomas through comparative analysis of pediatric and adult patients.

Clin Neurol Neurosurg 2020 Mar 19;194:105799. Epub 2020 Mar 19.

Department of Neurosurgery, Beijing Tian Tan Hospital, Capital Medical University, Beijing, China. Electronic address:

Objective: NF2 patients can develop new meningiomas throughout their lifetime. Little is known about the clinical features of newly developed NF2 meningiomas. In this study, we analyzed newly developed NF2 meningiomas in a large patient population. Read More

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http://dx.doi.org/10.1016/j.clineuro.2020.105799DOI Listing
March 2020
1.248 Impact Factor

ADAM9: A novel player in vestibular schwannoma pathogenesis.

Oncol Lett 2020 Mar 14;19(3):1856-1864. Epub 2020 Jan 14.

Department of Neurosurgery, University Hospital Würzburg, D-97080 Würzburg, Germany.

A disintegrin and metalloproteinase 9 (ADAM9) is a member of the transmembrane ADAM family. It is expressed in different types of solid cancer and promotes tumor invasiveness. To the best of our knowledge, the present study was the first to examine ADAM9 expression in vestibular schwannomas (VS) from patients with and without neurofibromatosis type 2 (NF2) and to associate the data with clinical parameters of the patients. Read More

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http://dx.doi.org/10.3892/ol.2020.11299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039135PMC

[Hereditary predisposition to tumors of the central and peripheral nervous systems].

Ann Pathol 2020 Apr 17;40(2):168-179. Epub 2020 Mar 17.

Département de pathologie cellulaire et tissulaire, CHU d'Angers, 4, rue Larrey, 49100 Angers, France; CRCINA, université de Nantes, université d'Angers, 49100 Angers, France. Electronic address:

Some tumors of the central and peripheral nervous system may be associated with a cancer predisposition syndrome, either hereditary or occurring de novo. Such a syndrome is usually associated with multiple tumors occurring early in life. Patients with neurofibromatosis type 1 present with multiple neurofibromas, especially of the plexiform type (which may transform into malignant peripheral nerve sheath tumor), and pilocytic astrocytomas of the optic pathways. Read More

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http://dx.doi.org/10.1016/j.annpat.2020.02.019DOI Listing

Magnetic resonance imaging (MRI) features of cataracts in pediatric and young adult patients.

Quant Imaging Med Surg 2020 Feb;10(2):428-431

Department of Radiology, Section of Neuroradiology, University of Chicago, Chicago, IL, USA.

Background: The goal of this study is to systematically evaluate the magnetic resonance imaging (MRI) signal characteristics and size of cataracts that may be encountered in pediatric and young adult patients.

Methods: A retrospective analysis of the MRI features with cataracts in a series of cases, including characterization of signal intensity on T2-weighted and T1-weighted sequences, as well as measuring the thickness of the lens.

Results: Among nine cataracts in seven patients, three lenses were thickened and hyperintense on T2-weighted sequences, presumably related to osmotic effects. Read More

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http://dx.doi.org/10.21037/qims.2020.01.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063293PMC
February 2020

Auditory Brainstem Implantation for Adults With Neurofibromatosis 2 or Severe Inner Ear Abnormalities: A Health Technology Assessment.

Authors:

Ont Health Technol Assess Ser 2020 6;20(4):1-85. Epub 2020 Mar 6.

Background: Neurofibromatosis 2 (NF2) is a rare genetic disorder that causes vestibular schwannomas to develop in both eighth cranial nerves. Almost all people with NF2 eventually become completely deaf as a result of progressive tumour enlargement or following surgical or radiotherapy treatment. Other rare abnormal conditions in the inner ears can also cause complete deafness. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077937PMC

Regression of a spinal schwannoma after Pomalidomide.

Br J Neurosurg 2020 Mar 18:1-2. Epub 2020 Mar 18.

Neurosurgery Department, University Hospital of North Midlands, Stoke on Trent, UK.

A 77-year old female with a history of neurofibromatosis type 2 (NF2) was diagnosed with a spinal schwannoma that was managed conservatively over a decade. During this time, follow up imaging revealed this lesion had been growing and the patient had become symptomatic from it necessitating surgical decompression. However, the patient had been diagnosed with multiple myeloma and underwent treatment with Pomalidomide chemotherapy which delayed surgery for the spinal schwannoma. Read More

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http://dx.doi.org/10.1080/02688697.2020.1742292DOI Listing

Contextualizing the Modern Epidemiology of Neurofibromatosis Type 2 in an Era of Heightened Detection of Sporadic Vestibular Schwannoma.

Otol Neurotol 2020 Apr;41(4):e501-e506

Department of Otolaryngology-Head and Neck Surgery.

Objective: Closely paralleling previous radiologic studies, recent population-based prevalence data suggest sporadic vestibular schwannoma (VS) affects over one in 2,000 adults and up to one in 500 in those aged 70 years or older. Attributable to increased utilization of magnetic resonance imaging and screening protocols for asymmetrical sensorineural hearing loss, the increasing detection rate of sporadic VS fundamentally changes the perception of VS as a whole. The primary objective of the current study was to contextualize modern epidemiological trends in neurofibromatosis type 2 (NF2) in light of these recent advancements in the understanding of sporadic VS. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002557DOI Listing

Human Cochlear Nucleus on 7 Tesla Diffusion Tensor Imaging: Insights Into Micro-anatomy and Function for Auditory Brainstem Implant Surgery.

Otol Neurotol 2020 Apr;41(4):e484-e493

Eaton-Peabody Laboratories, Massachusetts Eye and Ear.

Objective: The cochlear nucleus (CN) is the target of the auditory brainstem implant (ABI). Most ABI candidates have Neurofibromatosis Type 2 (NF2) and distorted brainstem anatomy from bilateral vestibular schwannomas. The CN is difficult to characterize as routine structural MRI does not resolve detailed anatomy. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002565DOI Listing

Clinical and histopathological analyses of VEGF receptors peptide vaccine in patients with primary glioblastoma - a case series.

BMC Cancer 2020 Mar 12;20(1):196. Epub 2020 Mar 12.

Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Background: The expression of vascular endothelial growth factor (VEGF)-A/ VAGF receptors (VEGFRs) signaling plays a pivotal role in the tumor angiogenesis and the development of the immunosuppressive tumor microenvironment in glioblastomas. We have previously conducted exploratory clinical studies investigating VEGFRs peptide vaccination with and without multiple glioma oncoantigens in patients with recurrent high-grade gliomas. Recently, an exploratory clinical investigation of VEGFRs peptide vaccination was conducted in patients with progressive neurofibromatosis type 2. Read More

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http://dx.doi.org/10.1186/s12885-020-6589-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066743PMC

Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.

Otol Neurotol 2020 Jun;41(5):e529-e537

Department of Otolaryngology, University of Miami Miller School of Medicine.

Objectives: In this review, we discuss current knowledge about the genetics and epigenetics of vestibular schwannoma (VS) in relation to hearing loss. A multistep and sequential genetic algorithm suitable for the identification of Neurofibromatosis Type 2 (NF2) constitutional and somatic mutations is discussed.

Data Sources, Study Selection: A review was performed of the English literature from 1990 to 2019 using PubMed regarding genetics and epigenetics of vestibular schwannoma and NF2. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002613DOI Listing

Familial intracranial ependymoma mimicking an extra-lesion: A case report and review of the literature.

J Clin Neurosci 2020 Apr 4;74:250-253. Epub 2020 Mar 4.

Department of Neurosurgery, Royal Melbourne Hospital, 300 Grattan Street, Parkville, VIC 3000, Australia; Department of Surgery, University of Melbourne, Parkville, VIC 3000, Australia. Electronic address:

Familial occurrence of intracranial ependymoma, in the absence of neurofibromatosis type 2 (NF2), is very rare with only a few cases reported in the literature. We report a 62-year-old man, who presented with a posterior fossa ependymoma with the majority of the lesion in the cerebellopontine angle, mimicking an extra-axial tumour. His two brothers also had 4th ventricular ependymomas requiring surgical resection. Read More

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http://dx.doi.org/10.1016/j.jocn.2020.01.051DOI Listing

Combination therapy with mTOR kinase inhibitor and dasatinib as a novel therapeutic strategy for vestibular schwannoma.

Sci Rep 2020 Mar 6;10(1):4211. Epub 2020 Mar 6.

Eaton-Peabody Laboratories and Department of Otolaryngology - Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, Boston, MA, 02114, USA.

Neurofibromatosis type 2 (NF2) is an inherited disorder characterized by bilateral vestibular schwannomas (VS) that arise from neoplastic Schwann cells (SCs). NF2-associated VSs are often accompanied by meningioma (MN), and the majority of NF2 patients show loss of the NF2 tumor suppressor. mTORC1 and mTORC2-specific serum/glucocorticoid-regulated kinase 1 (SGK1) are constitutively activated in MN with loss of NF2. Read More

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http://dx.doi.org/10.1038/s41598-020-60156-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060236PMC
March 2020
5.078 Impact Factor

Bevacizumab for NF2-associated vestibular schwannomas of childhood and adolescence.

Pediatr Blood Cancer 2020 May 2;67(5):e28228. Epub 2020 Mar 2.

Division of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.

Seventeen children at six institutions with neurofibromatosis type 2 (NF2)-related vestibular schwannomas received bevacizumab. Eight of the 13 patients with initial hearing loss (61%) showed objective hearing improvement within six months of treatment. No patients showed hearing deterioration during therapy; however, only two patients showed objective radiological response. Read More

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http://dx.doi.org/10.1002/pbc.28228DOI Listing
May 2020
2.562 Impact Factor

Quantitative assessment and clinical relevance of VEGFRs-positive tumor cells in refractory brain tumors.

Exp Mol Pathol 2020 Jun 21;114:104408. Epub 2020 Feb 21.

Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. Electronic address:

Vascular endothelial growth factor (VEGF)/VEGF receptor (VEGFR)1 and 2 signaling is a potent activator of tumor angiogenesis. Although the expressions of VEGFR1 and VEGFR2 were initially thought to be limited to the endothelial cells, it is now known that both the receptors are expressed in tumor cells. This is the first study wherein VEGFRs-positive tumor cells are quantitatively evaluated for brain tumors with upregulated VEGF/VEGFR signaling. Read More

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http://dx.doi.org/10.1016/j.yexmp.2020.104408DOI Listing

Metachronous Bilateral Vestibular Schwannomas.

Laryngoscope 2020 Feb 17. Epub 2020 Feb 17.

Sorbonne University, Paris, France.

Bilateral vestibular schwannoma (BVS) is the hallmark of neurofibromatosis type 2 (NF2), both of them being present at diagnosis. We report four cases of metachronous BVS, a contralateral intracanalicular vestibular schwannomas (VS) being visible 2 to 13 years after resection of a unilateral VS. NF2 workup was negative except in one case where two NF2 gene mutations were found in tumor analysis. Read More

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http://dx.doi.org/10.1002/lary.28571DOI Listing
February 2020
2.032 Impact Factor

Human Cochlear Nucleus on 7 Tesla Diffusion Tensor Imaging: Insights Into Micro-anatomy and Function for Auditory Brainstem Implant Surgery.

Otol Neurotol 2020 Jan 31. Epub 2020 Jan 31.

Eaton-Peabody Laboratories, Massachusetts Eye and Ear.

Objective: The cochlear nucleus (CN) is the target of the auditory brainstem implant (ABI). Most ABI candidates have Neurofibromatosis Type 2 (NF2) and distorted brainstem anatomy from bilateral vestibular schwannomas. The CN is difficult to characterize as routine structural MRI does not resolve detailed anatomy. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002565DOI Listing
January 2020

Neuroimaging in a Child with Neurofibromatosis Type 2.

Indian J Pediatr 2020 Feb 5. Epub 2020 Feb 5.

Department of Radiodiagnosis, Government Medical College and Hospital, Sector 32, Chandigarh, India.

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http://dx.doi.org/10.1007/s12098-020-03185-3DOI Listing
February 2020

Targetable ERBB2 mutations identified in neurofibroma/schwannoma hybrid nerve sheath tumors.

J Clin Invest 2020 May;130(5):2488-2495

Heidelberg Center for Personalized Oncology (HIPO), DKFZ, Heidelberg, Germany.

BACKGROUNDNeurofibroma/schwannoma hybrid nerve sheath tumors (N/S HNSTs) are neoplasms associated with larger nerves that occur sporadically and in the context of schwannomatosis or neurofibromatosis type 2 or 1. Clinical management of N/S HNSTs is challenging, especially for large tumors, and established systemic treatments are lacking.METHODSWe used next-generation sequencing and array-based DNA methylation profiling to determine the clinically actionable genomic and epigenomic landscapes of N/S HNSTs. Read More

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http://dx.doi.org/10.1172/JCI130787DOI Listing

Laser Interstitial Thermotherapy for Treatment of Symptomatic Peritumoral Edema After Radiosurgery for Meningioma.

World Neurosurg 2020 Apr 27;136:295-300. Epub 2020 Jan 27.

Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address:

Background: Symptomatic peritumoral edema (PTE) is a known complication after radiosurgical treatment of meningiomas. Although the edema in most patients can be successfully managed conservatively with corticosteroid therapy or bevacizumab, some medically refractory cases may require surgical resection of the underlying lesion when feasible. Laser interstitial thermotherapy (LITT) continues to gain traction as an effective therapeutic modality for the treatment of radiation necrosis where its biggest impact is through the control of peritumoral edema. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.01.143DOI Listing
April 2020
2.417 Impact Factor

Stereotactic body radiotherapy for benign spinal tumors: Meningiomas, schwannomas, and neurofibromas.

J Radiosurg SBRT 2019 ;6(3):167-177

Department of Radiation Oncology, Princess Alexandra Hospital, University of Queensland, Woolloongabba, QLD, Australia.

Stereotactic body radiation therapy (SBRT) is a relatively new technology, and its use among patients with benign spinal tumors has limited prospective data. Similar to intracranial benign tumors treated successfully with SBRT, benign spinal tumors of the same histology can also develop, and SBRT may be an effective treatment alternative in inoperable or recurrent cases. Outcomes in patients with neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis treated with SBRT have also been reported. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774487PMC
January 2019

Performing MRI Scans on Cochlear Implant and Auditory Brainstem Implant Recipients: Review of 14.5 Years Experience.

Otol Neurotol 2020 Jun;41(5):e556-e562

Emmeline Centre for Hearing Implants.

Objective: To assess the complication rate of magnetic resonance imaging (MRI) using 1.5 T scanners on cochlear implant (CI) and auditory brainstem implant (ABI) recipients over 14.5 years. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002569DOI Listing

Neurofibromatosis type 2 discordance in monozygous twins.

Fam Cancer 2020 Jan;19(1):37-40

Division of Evolution and Genomic Science, Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester University Hospital Foundation Trust, Manchester, UK.

Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by pathogenic variants in the NF2 gene. The pathogenic variant is either inherited or obtained by de novo mutation, characterised by the presence of schwannomas, meningiomas and ependymomas. Here we report the presence of NF2 in one twin, with bilateral vestibular schwannomas and a pathogenic variant of the NF2 gene identified in both tumour and lymphocytes, while his monozygous brother remains asymptomatic. Read More

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http://dx.doi.org/10.1007/s10689-019-00148-2DOI Listing
January 2020

Contextualizing the Modern Epidemiology of Neurofibromatosis Type 2 in an Era of Heightened Detection of Sporadic Vestibular Schwannoma.

Otol Neurotol 2020 Jan 13. Epub 2020 Jan 13.

Department of Otolaryngology-Head and Neck Surgery.

Objective: Closely paralleling previous radiologic studies, recent population-based prevalence data suggest sporadic vestibular schwannoma (VS) affects over one in 2,000 adults and up to one in 500 in those aged 70 years or older. Attributable to increased utilization of magnetic resonance imaging and screening protocols for asymmetrical sensorineural hearing loss, the increasing detection rate of sporadic VS fundamentally changes the perception of VS as a whole. The primary objective of the current study was to contextualize modern epidemiological trends in neurofibromatosis type 2 (NF2) in light of these recent advancements in the understanding of sporadic VS. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002557DOI Listing
January 2020

Clinical Profile and Results Obtained in Patients Treated by Auditory Brainstem Implants.

Acta Otorrinolaringol Esp 2020 Jan 11. Epub 2020 Jan 11.

Departamento de Otorrinolaringología, Clínica Universidad de Navarra, Pamplona, España.

Introduction: Cochlear implants have been able to treat some types of hearing loss, but those related to cochlear nerve impairment made it necessary to find new ways to manage these deficits; leading to auditory brainstem implants (ABI).

Aim: Our objective is to present the clinical profile of patients treated through an ABI and the results obtained from 1997 to 2017.

Material And Methods: On the one hand, patients with statoacoustic nerve tumours (VIIIcranial nerve) were selected, and on the other hand, patients withoutVIII tumours with congenital malformations of the inner ear. Read More

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http://dx.doi.org/10.1016/j.otorri.2019.08.003DOI Listing
January 2020

Contribution of mTOR and PTEN to Radioresistance in Sporadic and NF2-Associated Vestibular Schwannomas: A Microarray and Pathway Analysis.

Cancers (Basel) 2020 Jan 10;12(1). Epub 2020 Jan 10.

Center for Neuro-Oncology, Comprehensive Cancer Center Tübingen Stuttgart, 72076 Tübingen, Germany.

The use of radiation treatment has increased for both sporadic and neurofibromatosis type 2 (NF2)-associated vestibular schwannoma (VS). However, there are a subset of radioresistant tumors and systemic treatments that are seldom used in these patients. We investigated molecular alterations after radiation in three NF2-associated and five sporadically operated recurrent VS after primary irradiation. Read More

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http://dx.doi.org/10.3390/cancers12010177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016954PMC
January 2020

Epineural glomus tumor of the posterior interosseous nerve: Case report.

J Clin Neurosci 2020 Apr 6;74:232-234. Epub 2020 Jan 6.

Sorbonne Universités - Department of Neurosurgery, Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France; Neurofibromatosis Type 2 and Schwannomatosis Referral Center, Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France. Electronic address:

Among peripheral nerve sheath tumors, epineural glomus tumors represent a rare differential diagnosis for peripheral nerve schwannoma, displaying the same appearance on MRI. Here we present the case of a 68-year-old man complaining of pain in the left forearm, with paresthesias in the first three fingers. MRI demonstrated a round mass along the course of the posterior interosseous nerve with homogeneous contrast enhancement. Read More

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http://dx.doi.org/10.1016/j.jocn.2019.12.062DOI Listing

Response to: "what is the advantage of using sodium fluorescein during resection of peripheral nerve tumors?"

Acta Neurochir (Wien) 2020 May 6;162(5):1157. Epub 2020 Jan 6.

Department of Neurosurgery, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Universités, 47-83 boulevard de l'Hôpital, 75013, APHP, Paris, France.

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http://dx.doi.org/10.1007/s00701-019-04211-wDOI Listing

Bevacizumab Therapy of Neurofibromatosis Type 2 Associated Vestibular Schwannoma in Japanese Patients.

Neurol Med Chir (Tokyo) 2020 Feb 3;60(2):75-82. Epub 2020 Jan 3.

Department of Neurosurgery, Fukushima Medical University.

We conducted a feasibility study to investigate the therapeutic effect of bevacizumab on vestibular schwannomas (VS) associated with neurofibromatosis type 2 (NF2) in a sample of Japanese patients. Ten NF2 patients were selected between 2013 and 2018: nine women and one man, with ages ranging from 12 to 45 years (mean: 29.4). Read More

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http://dx.doi.org/10.2176/nmc.oa.2019-0194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040431PMC
February 2020

Difference in the hypoxic immunosuppressive microenvironment of patients with neurofibromatosis type 2 schwannomas and sporadic schwannomas.

J Neurooncol 2020 Jan 3;146(2):265-273. Epub 2020 Jan 3.

Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Background: Neurofibromatosis type 2 (NF2) patients uniformly develop multiple schwannomas. The tumor-microenvironment (TME) is associated with hypoxia and consists of immunosuppressive cells, including regulatory T cells (Tregs) and tumor-associated macrophages (TAMs). The hypoxic TME of NF2 schwannomas remains unclear. Read More

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http://dx.doi.org/10.1007/s11060-019-03388-5DOI Listing
January 2020

Peripheral nerve sheath tumors in Neurofibromatosis Type 2: Surgical and histopathologic features.

Clin Neurol Neurosurg 2020 Mar 23;190:105649. Epub 2019 Dec 23.

Division of Neurosurgery, House Institute, Los Angeles, CA, United States. Electronic address:

Objective: Management of peripheral nerve sheath tumors (PNST) in Neurofibromatosis Type 2 (NF2) is complicated by frequent involvement of major peripheral nerves and concern that these tumors may be plexiform and/or involve multiple fascicles. Hybrid histologic features of both schwannoma and neurofibroma have been described in NF2-associated tumors, although the incidence of this phenotype in PNSTs is unknown. We sought to define the outcomes of surgery for tumors involving major peripheral nerves in NF2 and identify the rate of hybrid histology in PNSTs. Read More

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http://dx.doi.org/10.1016/j.clineuro.2019.105649DOI Listing

Neurofibromatosis type 2 and multiple sclerosis.

Mult Scler Relat Disord 2019 Dec 9;39:101890. Epub 2019 Dec 9.

Department of Neurosurgery, Helios Klinikum, Erfurt 99089, Germany. Electronic address:

Comorbidity of neurofibromatosis type 2 (NF2) and multiple sclerosis (MS) has rarely been reported. Since immunological mechanisms have been implicated in Nf2, coexistence of the two entities may offer insights into schwannoma pathogenesis with respect to the impact of the immune system. We present the case of a woman with a de novo mutation in the NF2 gene who later developed MS. Read More

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http://dx.doi.org/10.1016/j.msard.2019.101890DOI Listing
December 2019

A VEGF receptor vaccine demonstrates preliminary efficacy in neurofibromatosis type 2.

Nat Commun 2019 12 17;10(1):5758. Epub 2019 Dec 17.

Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

The anti-VEGF antibody bevacizumab has shown efficacy for the treatment of neurofibromatosis type 2 (NF2). Theoretically, vascular endothelial growth factor receptors (VEGFRs)-specific cytotoxic T lymphocytes (CTLs) can kill both tumor vessel cells and tumor cells expressing VEGFRs. Here we show an exploratory clinical study of VEGFRs peptide vaccine in seven patients with progressive NF2-derived schwannomas. Read More

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http://dx.doi.org/10.1038/s41467-019-13640-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917794PMC
December 2019

[Hypoglossal schwannoma: case report and literature review].

Zh Vopr Neirokhir Im N N Burdenko 2019 ;83(5):51-57

Burdenko Neurosurgical Center, Moscow, Russia.

Hypoglossal schwannoma is a rare tumor this frequency approximately less than 5% all non-vestibular schwannomas. Also, it may be sign of neurofibromatosis type 2. Usually, the tong deviation in side of the tumor is the first symptom of the disease. Read More

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http://dx.doi.org/10.17116/neiro20198305151DOI Listing
January 2020

Anterior knee schwannoma.

J Surg Case Rep 2019 Sep 7;2019(9):rjz236. Epub 2019 Sep 7.

Department of Surgery, New York University Langone Hospital Brooklyn, Brooklyn, NY 11220, USA.

Peripheral nerve tumors are relatively uncommon with schwannomas being the most common type. Schwannomas are usually benign encapsulated tumors composed of neoplastic Schwann cells that generally do not transform to malignancy. Many are discovered incidentally as solitary tumors. Read More

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http://dx.doi.org/10.1093/jscr/rjz236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6889750PMC
September 2019

Sporadic and NF2-associated vestibular schwannoma surgery and simultaneous cochlear implantation: a comparative systematic review.

Eur Arch Otorhinolaryngol 2020 Feb 4;277(2):333-342. Epub 2019 Dec 4.

Department of Otorhinolaryngology Head and Neck Surgery and Audiology, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.

Purpose: Cochlear implantation (CI) in patients with sensorineural hearing loss caused by a vestibular schwannoma (VS) represents a unique subtype of hearing rehabilitation, as the outcome may be compromised by vestibulocochlear nerve injury as part of the natural VS history or due to iatrogenic trauma induced by surgical tumor removal. This paper aims to review and report contemporary knowledge and practice regarding feasibility and outcomes of simultaneous vestibular schwannoma resection and cochlear implantation to serve as a reference and guide for future surgery and studies.

Methods: The current literature was searched systematically according to the PRISMA guidelines and after criteria-based selection, 29 studies were identified, including a total of 86 patients who had undergone surgical resection of a vestibular schwannoma and subsequent cochlear implantation in a single procedure. Read More

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http://dx.doi.org/10.1007/s00405-019-05741-wDOI Listing
February 2020

Incidental Effect of Long-Term Tacrolimus Treatment on Sporadic Vestibular Schwannoma Volume Shrinkage and Clinical Improvement.

Otol Neurotol 2020 01;41(1):e89-e93

Department of Otorhinolaryngology-Head and Neck Surgery.

Objective: We describe the effect of long-term tacrolimus delivery on sporadic vestibular schwannoma (VS).

Patient: A 48-year-old woman who was diagnosed a right VS.

Intervention: Long-term tacrolimus delivery following liver transplant. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002428DOI Listing
January 2020

Minimal Effect of Bevacizumab Treatment on Residual Vestibular Schwannomas after Partial Resection in Young Neurofibromatosis Type 2 Patients.

Cancers (Basel) 2019 Nov 25;11(12). Epub 2019 Nov 25.

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

Hearing-preserving partial resection of neurofibromatosis type 2 (NF2) associated vestibular schwannomas (VS) is a preferred treatment strategy, particularly for children and adolescents. However, the residual tumors do grow and lead at some point to continued hearing deterioration. An adjuvant bevacizumab treatment may provide an option for slowing down this process. Read More

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http://dx.doi.org/10.3390/cancers11121862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966588PMC
November 2019

Autonomic Cross-Innervation in Patients With Neurofibromatosis Type 2: Frey Syndrome and Unilateral Epiphora With Rhinorrhea.

Child Neurol Open 2019 6;6:2329048X19866617. Epub 2019 Aug 6.

Pediatric Hematology-Oncology, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA.

The authors present 2 cases of cross-innervation in patients with neurofibromatosis type 2. In the first case, an iodine test was performed to demonstrate Frey syndrome in a 28-year-old female with neurofibromatosis type 2 who developed symptoms at age 10 years. The second patient is an 18-year-old female with neurofibromatosis type 2, 2 years status post left vestibular schwannoma subtotal resection who presented with paradoxical unilateral lacrimation and rhinorrhea triggered by heat stress and exercise. Read More

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http://dx.doi.org/10.1177/2329048X19866617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852346PMC

[Bilateral intracochlear schwannomas in a patient with no genetic or clinical features of neurofibromatosis type 2. German version].

HNO 2019 Nov 22. Epub 2019 Nov 22.

Ear Science Institute of Australia, School of Surgery, University of Western Australia, 1/1 Salvado Road, 6008, Subiaco, Australien.

Schwannomas of the eighth cranial nerve are benign tumours commonly found in the internal auditory meatus or in the cerebellopontine angle. In most cases, they arise from the inferior or vestibular portion of the vestibular nerve. Rarely, these tumours present in the inner ear and are then called intralabyrinthine schwannomas. Read More

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http://dx.doi.org/10.1007/s00106-019-00751-wDOI Listing
November 2019

Integrated analysis of miRNA landscape and cellular networking pathways in stage-specific prostate cancer.

PLoS One 2019 22;14(11):e0224071. Epub 2019 Nov 22.

Department of Urology, Case Western Reserve University, School of Medicine, Cleveland, OH, United States of America.

Dysregulation of miRNAs has been demonstrated in several human malignancies including prostate cancer. Due to tissue limitation and variable disease progression, stage-specific miRNAs changes in prostate cancer is unknown. Using chip-based microarray, we investigated global miRNA expression in human prostate cancer LNCaP, PC3, DU145 and 22Rv1 cells representing early-stage, advanced-stage and castration resistant prostate cancer in comparison with normal prostate epithelial cells. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0224071PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874298PMC
March 2020
3.234 Impact Factor

Detailed insight in intraoperative eABR measurements to assist auditory brainstem implantation in a patient with neurofibromatosis type 2.

Acta Neurol Belg 2019 Nov 20. Epub 2019 Nov 20.

Department of Otolaryngology, Medical University of Warsaw, Warsaw, Poland.

Auditory brainstem implant (ABI) is used to provide auditory sensations in patients with neurofibromatosis type 2 who lost their hearing due to a surgical removal of the tumor. ABI surgery, implant activation and follow-up sessions present unique challenges including the exact placement of the electrode pad in the lateral recess of the IVth ventricle, identification of electrodes that trigger non-auditory sensation and their deactivation which lowers the number of electrodes responsible for hearing, changes of T- and C-levels across follow-up sessions. We present a complete procedure using an example case starting from the surgical part with the detailed description of intraoperative eABR measurement as a guidance for pad placement to the ABI activation and first fitting sessions with auditory sensation assessment. Read More

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http://dx.doi.org/10.1007/s13760-019-01248-7DOI Listing
November 2019