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Childs Nerv Syst 2022 May 19. Epub 2022 May 19.

Department of Neurosurgery, Tokyo Metropolitan Police Hospital, Tokyo, Japan.

Purpose: Sporadic vestibular schwannoma (VS) is rare in children in contrast to adults, and detailed investigations of case series of these patients using a single fixed protocol are scarce. This study presents our surgical experience of pediatric VSs without clinical evidence of neurofibromatosis type 2 (NF2) at the initial diagnosis.

Methods: Among 1385 consecutive sporadic VS surgeries, 18 pediatric patients (1. Read More

Digit J Ophthalmol 2022 21;28(1):12-16. Epub 2022 Jan 21.

Department of Ophthalmology, Tohoku University Graduate School of Medicine.

We present surgical outcomes in a 10-year-old Japanese girl with neurofibromatosis type 2 (NF2)-induced epiretinal membrane (ERM). Her right eye underwent lens-sparing 27-gauge microincision vitrectomy surgery (MIVS) with ERM peeling. Decimal best-corrected visual acuity increased from 0. Read More

J Neuroimaging 2022 May 12. Epub 2022 May 12.

Department of Radiology, Division of Neuroradiology, University of Michigan, Ann Arbor, Michigan, USA.

Background And Purpose: Differentiating paragangliomas from schwannomas and distinguishing sporadic from neurofibromatosis type 2 (NF 2)-related schwannomas is challenging but clinically important. This study aimed to assess the utility of dynamic susceptibility contrast perfusion MRI (DSC-MRI) and diffusion-weighted imaging (DWI) in discriminating infratentorial extra-axial schwannomas from paragangliomas and NF2-related schwannomas.

Methods: This retrospective study included 41 patients diagnosed with paragangliomas, sporadic schwannomas, and NF2-related schwannomas in the infratentorial extra-axial space between April 2013 and August 2021. Read More

J Nephrol 2022 May 13. Epub 2022 May 13.

Division of Nephrology, Department of Medicine, The Ohio State University Wexner Medical Center, 1664 Neil Ave, 4th Floor, Columbus, OH, 43201, USA.

ORL J Otorhinolaryngol Relat Spec 2022 May 10:1-4. Epub 2022 May 10.

Department of Otolaryngology, Head and Neck Surgery, The Second Hospital of Jilin University, Changchun, China.

A primary intracochlear schwannoma (ICS) is a unique type of vestibular schwannoma (VS); the tumor originates from the terminal branches of the cochlear nerve and is confined to the cochlea. An ICS is the most common subtype of schwannoma in the inner ear. As an ICS is clinically rare, diagnosis and treatment remain challenging. Read More

Neurosurg Focus 2022 05;52(5):E5

1Department of Neurological Surgery, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio.

Objective: The objective of this paper was to describe the volumetric natural history of meningiomas in patients with neurofibromatosis type 2 (NF2).

Methods: The authors performed a retrospective descriptive study by reviewing NF2 patients with meningiomas at their institution between 2000 and 2019. Demographic data were collected from the electronic medical records. Read More

Neurosurg Focus 2022 05;52(5):E2

1Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

Objective: Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. Read More

Arthrosc Tech 2022 Apr 28;11(4):e705-e710. Epub 2022 Mar 28.

Midwest Orthopaedics at Rush, Chicago, Illinois, U.S.A.

The common peroneal nerve (CPN) runs laterally around the fibular neck and enters the peroneal tunnel, where it divides into the deep, superficial, and recurrent peroneal nerves. CPN entrapment is the most common neuropathy of the lower extremity and is vulnerable at the fibular neck because of its superficial location. Schwannomas are benign, encapsulated tumors of the nerve sheath that can occur sporadically or in cases of neurocutaneous conditions, such neurofibromatosis type 2. Read More

J Eur Acad Dermatol Venereol 2022 May 1. Epub 2022 May 1.

Dermatology Department, Hospital Universitari Germans Trias I Pujol (HUGTiP), Badalona, Spain.

Background: Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in the nervous system. Cutaneous lesions are common and may provide useful diagnostic and prognostic information, but they have not been widely studied.

Objectives: To characterize cutaneous lesions in a Spanish cohort of patients with NF2 and investigate associations with clinical and genetic severity. Read More

J Neuroophthalmol 2022 Apr 27. Epub 2022 Apr 27.

Departments of Radiology (FS, BCAT), Ophtalmology (KH), and Neurology (ACSC), Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.

Acta Pharmacol Sin 2022 Apr 27. Epub 2022 Apr 27.

Department of ICT Environmental Health System, Graduate School, Soonchunhyang University, Asan-si, 31538, Republic of Korea.

Vestibular schwannoma (VS), one of characteristic tumors of neurofibromatosis type 2 (NF2), is an intracranial tumor that arises from Schwann cells of the vestibular nerve. VS results in hearing loss, tinnitus, dizziness, and even death, but there are currently no FDA-approved drugs for treatment. In this study, we established a high-throughput screening to discover effective compounds that could inhibit the viability of VS cells. Read More

Cureus 2022 Mar 22;14(3):e23381. Epub 2022 Mar 22.

Department of Internal Medicine, Grand Strand Medical Center, Myrtle Beach, USA.

Schwannomatosis is a rare subset of neurofibromatosis. It is a disease process with a predisposition to schwannomas in the absence of bilateral vestibular schwannomas, which differentiates it from neurofibromatosis 2 (NF2). It is occasionally associated with certain tumors such as malignant peripheral nerve sheath tumors or rhabdoid tumors. Read More

Childs Nerv Syst 2022 Apr 25. Epub 2022 Apr 25.

Department of Pathology, Chonnam National University Medical School, Chonnam National University Hwasun Hospital, Gwangju, Republic of Korea.

Introduction: Neurofibromatosis type 2 (NF-2) is an inherited disease, linked with abnormalities in the NF-2 gene, which is located on chromosome 22 and involved in merlin production. Many craniospinal tumors are common in individuals with NF-2. We present a case of NF-2 with the rapid symptomatic progression of multiple craniospinal tumors. Read More

Neurol Clin 2022 May 31;40(2):405-420. Epub 2022 Mar 31.

Department of Neurological Surgery, The Ohio State University Wexner Medical Center, The Ohio State University, 410 West 10th Avenue, Doan Hall N1019, Columbus, Ohio 43210, USA.

Familial neoplastic syndromes commonly impact the central and peripheral nervous systems. The most common neoplastic syndromes clinically relevant to neurology and neurologic surgery, include neurofibromatosis type 1, neurofibromatosis type 2, and Von Hippel-Lindau disease. We define the epidemiology, genetics, clinical presentation, and manifestations, as well as screening recommendations and management paradigms for these syndromes and other familial neoplastic syndromes that affect the nervous system. Read More

Children (Basel) 2022 Apr 1;9(4). Epub 2022 Apr 1.

Section of Pediatric Neurosurgery, Department of Neurosurgery, University Hospital Tübingen, 72076 Tübingen, Germany.

Vestibular schwannomas (VS) usually manifest between the 5th and 8th decade of life. Most pediatric cases are associated with Neurofibromatosis type 2 and sporadic VS are rare in this age group. Few case series have been published. Read More

Ann Otol Rhinol Laryngol 2022 Apr 21:34894221091010. Epub 2022 Apr 21.

Division of Otolaryngology - Head & Neck Surgery, Department of Surgery, The University of Wisconsin School of Medicine and Public Health, The University of Wisconsin-Madison, Madison, WI, USA.

Objective: To investigate the results of cochlear implantation in subjects with neurofibromatosis type 2 (NF2) and bilateral vestibular schwannomas (VS).

Study Design: Retrospective case series.

Setting: University-based tertiary referral center. Read More

Clin Neuropathol 2022 Apr 21. Epub 2022 Apr 21.

Neurofibromatosis type 2 (NF2) is a tumor predisposition syndrome characterized by the growth of schwannomas, especially bilateral vestibular schwannomas (VS), meningiomas, and ependymomas. The anti-VEGF antibody bevacizumab has shown efficacy for VS in some NF2 patients. However, there is limited data on the effect of bevacizumab on non-vestibular tumors, and on the correlation between therapy response and genotype. Read More

World Neurosurg 2022 Apr 15. Epub 2022 Apr 15.

Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Objective: The objective of this study was to explore serum microRNA (miRNA) profile characteristic of patients with neurofibromatosis type 2 (NF2), including both sporadic and familial cases, by comprehensive analysis of miRNA expression using next-generation sequencing.

Methods: Nine patients with NF2 were included in this study. In addition, 7 patients with unilateral acoustic neuroma without a family history of NF2 were invited to participate as the control cohort in the study. Read More

J Pathol 2022 Apr 8. Epub 2022 Apr 8.

Department of Neural Reconstruction, Beijing Key Laboratory of Central Nervous System Injury, Beijing Neurosurgical Institute, Capital Medical University, Beijing, PR China.

Treatment of schwannomas in patients with neurofibromatosis type 2 (NF2) is extremely unsatisfactory, and innovative therapeutic approaches are urgently needed. However, the lack of clinically relevant NF2-associated schwannoma models has severely hampered drug discovery in this rare disease. Here we report the first establishment and characterization of patient-derived xenograft (PDX) and cell line models of NF2-associated schwannoma, which recapitulates the morphological and histopathological features of patient tumors, retain patient NF2 mutations, and maintain gene expression profiles resembling patient tumor profiles with the preservation of multiple key signaling pathways commonly dysregulated in human schwannomas. Read More

Neurosurgery 2022 Jun 30;90(6):793-799. Epub 2022 Mar 30.

North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

Background: Bilateral vestibular schwannomas (VS) are pathognomonic of neurofibromatosis type 2 (NF2), but the diagnostic criteria also include unilateral VS (UVS) in combination with multiple meningiomas (MM) and other schwannomas, as well as MM without VS.

Objective: To investigate the diagnostic value of these criteria and establish the presence of other genetic conditions in patients presenting in this manner.

Methods: The Manchester International NF2 database was accessed to obtain information on patients presenting with a UVS and MM or ≥2 nonintradermal schwannomas (NIDS). Read More

Hum Mutat 2022 May 2;43(5):643-654. Epub 2022 Apr 2.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 missense variants, with variant classifications based on currently available evidence. Read More

Cureus 2022 Feb 11;14(2):e22118. Epub 2022 Feb 11.

Department of Neurosurgery, Tata Main Hospital, Jamshedpur, IND.

Meningiomas are one of the most common primary intracranial tumors known to exist since pre-historic times. Most of these tumors are benign, sporadic, and solitary. Multiple meningiomas are rare and have mostly been described in patients with neurofibromatosis type 2 (NF2). Read More

Cancer Manag Res 2022 12;14:1125-1129. Epub 2022 Mar 12.

Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, 300052, People's Republic of China.

Primary tracheal schwannoma is a rare disease with no specific symptoms. At the molecular level, neurofibromatosis type 2 (NF2) gene mutation of Schwann cells is the major tumorigenic element. Herein, we present the case of a 54-year-old man with refractory shortness of breath and dry cough, which was resistant to bronchodilator treatment. Read More

World Neurosurg 2022 Mar 15;162:73. Epub 2022 Mar 15.

Department of Neurosurgery, Rutgers, Robert Wood Johnson Medical School & University Hospital, New Brunswick, New Jersey, USA. Electronic address:

Cranial nerve schwannomas accounts for around 8% of all benign intracranial tumors, arising most commonly from the vestibular nerve, followed by the trigeminal nerve and other lower cranial nerves. However, trochlear schwannoma in a patient without neurofibromatosis-2 are extremely rare and to date, fewer than 100 cases have been reported in the literature. They are either asymptomatic or present with ophthalmologic or neurologic symptoms. Read More

Neurooncol Adv 2022 Jan-Dec;4(1):vdac005. Epub 2022 Jan 16.

Institute for Drug Development, Division of Hematology and Medical Oncology, Mays Cancer Center, University of Texas Health San Antonio MD Anderson Cancer Center, San Antonio, Texas, USA.

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 with drug development efforts targeting these tumors by analyzing translational and clinical findings.

Methods: This systematic review was written according to the PRISMA guidelines. Read More

Orphanet J Rare Dis 2022 03 5;17(1):115. Epub 2022 Mar 5.

Department of Neurology, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

Background: Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease characterized by increased Schwann cell proliferation in peripheral nerves. Several small studies of brain morphology in children with NF1 have found increased total brain volume, total white matter volume and/or corpus callosum area. Some studies (mostly in children with NF1) also attempted to correlate changes in brain morphology and volume with cognitive or behavioural abnormalities, although the findings were inconsistent. Read More

Otol Neurotol 2022 Feb 24. Epub 2022 Feb 24.

The Richard Ramsden Centre for Hearing Implants, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre Faculty of Biology, Medicine and Health, University of Manchester Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge St Thomas' Hospital, Guy's & St Thomas' NHS Foundation Trust, London John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford Department of Clinical Genetics, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

Objective: To review the outcomes of cochlear implants (CI) in patients with neurofibromatosis type 2 (NF2) in a large cohort, and identify factors associated with poor hearing benefit.

Study Design: Fifteen-year retrospective national observational case series.

Setting: United Kingdom regional NF2 multidisciplinary teams. Read More

Curr Pain Headache Rep 2022 Apr 18;26(4):281-288. Epub 2022 Feb 18.

Division of Child Neurology, Minneapolis Clinic of Neurology, Minneapolis, MN, USA.

Purpose Of Review: Tuberous sclerosis complex (TSC) and neurofibromatosis (NF) are neurocutaneous disorders often encountered by neurologists in clinical practice. This article aims to familiarize adult and pediatric neurologists with common features of these disorders and headache specific evaluation and management.

Recent Findings: Non-malignant intracranial tumors in TSC include cortical tubers (glioneuronal hamartomas), subependymal nodules or subependymal giant-cell astrocytomas (SEGA). Read More

Am J Med Genet A 2022 Jun 18;188(6):1863-1867. Epub 2022 Feb 18.

Department of Neurosurgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

The diagnosis of mosaicism is challenging in patients with neurofibromatosis type 2 (NF2) subset due to low variant allele frequency. In this study, we generated induced pluripotent stem cells (iPSCs) were generated from a patient clinically diagnosed with NF2 based on multiple schwannomas, including bilateral vestibular schwannomas and meningiomas. Genetic analysis of the patient's mononuclear cells (MNCs) from peripheral blood failed to detect NF2 alteration but successfully found p. Read More

Radiol Case Rep 2022 Apr 3;17(4):1082-1087. Epub 2022 Feb 3.

University of Texas Southwestern Medical Center, Department of Pediatric Radiology, Dallas, TX, USA.

We report a case of multifocal cystic meningioangiomatosis (MA), an exceptionally uncommon diagnosis even in patients with type 2 neurofibromatosis (NF2). A 2-year-old male with personal as well as family history of genetically-confirmed NF2 presented with incidental findings of MA after imaging for closed-head injury. Computed tomography and magnetic resonance imaging revealed multifocal subcortical and basal ganglia cysts, enhancing tumor-like vascular encasement, and a cerebellar ependymoma with atypical features. Read More