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Verena Stahn, Inga Nagel, Susan Fischer-Huchzermeyer, Florian Oyen, Reinhard Schneppenheim, Stefan Gesk, Axel Bohring, Levan Chikobava, Peter Young, Burkhard Gess, Mathias Werner, Volker Senner, Anja Harder
Neurofibromas and schwannomas are benign Schwann cell-derived peripheral nerve sheath tumors arising sporadically and within neurofibromatoses. Multiple tumors are a hallmark of neurofibromatosis type 1 (NF1) and type 2 (NF2) and schwannomatosis. Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are defined by distinctive molecular hits. Among these, multiple hybrid neurofibromas/schwannomas may also appear, not yet being defined by a molecular background. We therefore performed molecular analysis of 22 hybrid neurofibromas/schwannomas using array comparative genomic hybridization, immunohistochemistry, quantitative RT-PCR, and functional analyses of cultured Schwann cells...
October 17, 2016: American Journal of Pathology
K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Jesse Lee Kresak, Meggen Walsh
The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.
June 2016: Journal of Pediatric Genetics
Tayfun Hakan, Erhan Celikoğlu, Fügen Aker, Nagehan Barişik
The aims of this addendum are to inform the readers about the advances in the case with spinal schwannomatosis that previously published in this journal. The patient was accepted as possible schwannomatosis. He was younger than 30 years old, has two non-intradermal schwannomas, two histological confirmations and no evidence of vestibular tumor on a high quality MR scan. Following the publishing of the case, he underwent tumor excision three more times for his spinal tumors diagnosed as schwannoma in a five-year period...
February 5, 2016: Turkish Neurosurgery
Erynne A Faucett, Brandon T Larsen, Rihan Khan, Alexander G Chiu, Eugene H Chang
Sinonasal schwannomas with intracranial extension are exceedingly rare, with only 7 cases reported in the literature. Schwannomas can be isolated or multiple and are commonly associated with familial disorders such as neurofibromatosis 2 (NF 2) or familial schwannomatosis or in sporadic cases seen in sporadic schwannomatosis. Nearly all people with NF2 older than 30 years of age will have the hallmark of bilateral vestibular schwannomas (VS). This case highlights a reported case of an adult with separate primary intracranial tumors...
November 2016: Annals of Otology, Rhinology, and Laryngology
C Oliver Hanemann, Jaishri O Blakeley, Fabio P Nunes, Kent Robertson, Anat Stemmer-Rachamimov, Victor Mautner, Andreas Kurtz, Michael Ferguson, Brigitte C Widemann, D Gareth Evans, Rosalie Ferner, Steven L Carroll, Bruce Korf, Pierre Wolkenstein, Pamela Knight, Scott R Plotkin
OBJECTIVE: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group's goals are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers in NF1, NF2, and SWN; (3) outline recommendations for sample collection and biomarker development; and (4) standardize sample collection and methodology protocols where possible to promote comparison between studies by publishing standard operating procedures (SOPs)...
August 16, 2016: Neurology
Pamela L Wolters, Staci Martin, Vanessa L Merker, James H Tonsgard, Sondra E Solomon, Andrea Baldwin, Amanda L Bergner, Karin Walsh, Heather L Thompson, Kathy L Gardner, Cynthia M Hingtgen, Elizabeth Schorry, William N Dudley, Barbara Franklin
OBJECTIVE: Tumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcomes (PROs) assessing pain and physical functioning should be included as study endpoints. Currently, there is no consensus on the selection and use of such measures in the NF population. This article presents the recommendations of the PRO group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration for assessing the domains of pain and physical functioning for NF clinical trials...
August 16, 2016: Neurology
Shivani Ahlawat, Laura M Fayad, Muhammad Shayan Khan, Miriam A Bredella, Gordon J Harris, D Gareth Evans, Said Farschtschi, Michael A Jacobs, Avneesh Chhabra, Johannes M Salamon, Ralph Wenzel, Victor F Mautner, Eva Dombi, Wenli Cai, Scott R Plotkin, Jaishri O Blakeley
OBJECTIVES: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN), to recommend optimal image acquisition and analysis methods to enable WB-MRI as an endpoint in NF clinical trials. METHODS: A systematic process was used to review all published data about WB-MRI in NF syndromes to assess diagnostic accuracy, feasibility and reproducibility, and data about specific techniques for assessment of tumor burden, characterization of neoplasms, and response to therapy...
August 16, 2016: Neurology
Karin S Walsh, Jennifer Janusz, Pamela L Wolters, Staci Martin, Bonita P Klein-Tasman, Mary Anne Toledo-Tamula, Heather L Thompson, Jonathan M Payne, Kristina K Hardy, Peter de Blank, Claire Semerjian, Laura Schaffner Gray, Sondra E Solomon, Nicole Ullrich
Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease. However, there is little agreement regarding measures to use as cognitive endpoints in clinical trials. This article describes the work of the Neurocognitive Committee of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration. The goal of this committee is to identify standardized and specific cognitive assessment tools for use in NF clinical trials...
August 16, 2016: Neurology
Scott R Plotkin, Stephanie D Davis, Kent A Robertson, Srivandana Akshintala, Julian Allen, Michael J Fisher, Jaishri O Blakeley, Brigitte C Widemann, Rosalie E Ferner, Carole L Marcus
OBJECTIVE: Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%-50% of individuals with neurofibromatosis type 1 (NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically important. Because improvement in sleep quality or airway function represents direct clinical benefit, measures of sleep and pulmonary function may be more meaningful than tumor size as endpoints in therapeutic clinical trials targeting airway PN...
August 16, 2016: Neurology
Said Farschtschi, Victor-Felix Mautner, Mirko Pham, Rosa Nguyen, Hildegard Kehrer-Sawatzki, Sonja Hutter, Reinhard E Friedrich, Alexander Schulz, Helen Morrison, David T W Jones, Martin Bendszus, Philipp Bäumer
Schwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 germline mutations...
October 2016: Annals of Neurology
Katrina A Morris, Allyson Parry, Pieter M Pretorius
OBJECTIVE: To compare the sensitivity of linear and volumetric measurements on MRI in detecting schwannoma progression in patients with neurofibromatosis type 2 on bevacizumab treatment as well as the extent to which this depends on the size of the tumour. METHODS: We compared retrospectively, changes in linear tumour dimensions at a range of thresholds to volumetric tumour measurements performed using Brainlab iPlan(®) software (Feldkirchen, Germany) and classified for tumour progression according to the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) criteria...
September 2016: British Journal of Radiology
Jonathan Yun, Christopher J Winfree
INTRODUCTION: The differentiation of malignant peripheral nerve sheath tumors (MPNST) from benign nerve sheath tumors is critical to direct treatment. Although histopathological diagnosis remains the standard, clinical and radiographic assessments are key for lesions that present with diagnostic uncertainty. Previous studies exploring these criteria have been limited by low sensitivity and specificity. Here, we describe a scoring system based on clinical presentation, neurological examination, and MRI and apply it retrospectively to a single-surgeon series of peripheral nerve sheath tumors...
August 2016: Neurosurgery
Matthew L Carlson, Jamie J Van Gompel
OBJECTIVE: To report a case of a patient presenting with two separate unilateral vestibular schwannomas (VSs) without other stigmata of neurofibromatosis type 2 (NF2). STUDY DESIGN: This article discusses a case report and review of the literature. SETTING: Tertiary academic referral center. PARTICIPANTS: A 41-year-old female was referred for evaluation of a left-sided 1.8-cm cerebellopontine angle tumor centered on the porus acusticus and a separate ipsilateral 3-mm intracanalicular tumor appearing to arise from the superior vestibular nerve...
June 2016: Journal of Neurological Surgery Reports
Namath S Hussain, Charles S Specht, Elizabeth Frauenhoffer, Michael Glantz, Kimberly Harbaugh
Neurofibromas and schwannomas are common lesions that may be idiopathic or may occur in association with neural crest genetic syndromes such as neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. A hybrid tumor that contains pathological characteristics of both neurofibroma and schwannoma has been described as a rare entity. We present the clinical, radiographic, and pathological findings of such a case.
2016: Curēus
Maciej Radek, Bartłomiej Tomasik, Maciej Wojdyn, Dorota Snopkowska-Wiaderna, Maciej Błaszczyk, Andrzej Radek
INTRODUCTION: Neurofibromatosis type 2 (NF2) and schwannomatosis are entities that may, due to the similarity of clinical symptoms, cause diagnostic difficulties. Incidence rate of both diseases is similar and estimated between 1:25,000 and 1:40,000. The genes associated with the development of the aforementioned disorders are located on chromosome 22 and lay in proxmity. Schwannomatosis is characterized by an incomplete penetrance and the risk of its transmission to the offspring is significantly lower than in the case of NF 2...
2016: Neurologia i Neurochirurgia Polska
Aurore Picry, Nicolas-Xavier Bonne, Juliette Ding, Rabih Aboukais, Jean-Paul Lejeune, Marc Baroncini, Frédérique Dubrulle, Christophe Vincent
OBJECTIVES/HYPOTHESIS: To determine the long-term growth rate of vestibular schwannoma (VS) in neurofibromatosis type 2 (NF2) patients based on volumetric measurements. STUDY DESIGN: Retrospective review. METHODS: We retrospectively reviewed magnetic resonance imaging (MRI) scans acquired from patients with NF2 from 1999 to 2013. Patients with an annual radiologic follow-up over at least 3 consecutive years were included. Volumetric VS growth was prospectively measured using a three-dimensional imaging workstation and through manual contouring of the lesion...
October 2016: Laryngoscope
Adam Shaw
Bilateral vestibular schwannomata and meningiomata are the tumours most commonly associated with neurofibromatosis type II (NF2). These tumours may also be seen in patients with schwannomatosis and familial meningioma, but these phenotypes are usually easy to distinguish. The main diagnostic challenge when managing these tumours is distinguishing between sporadic disease which carries low risk of subsequent tumours or NF2 with its associated morbidities and reduced life expectancy. This chapter outlines some of the diagnostic and management considerations along with associated evidence...
2016: Recent Results in Cancer Research
Ranjit Kumar Baruah, Suresh Bora, Russel Haque
UNLABELLED: To report a case of segmental schwannomatosis involving the dorsal and lumbar spine and describe its excision as well as review of literature on schwannomatosis involving the spine. SUMMARY OF BACKGROUND DATA: Schwannomas are nerve sheath tumours which usually occur as solitary lesions. Presence of multiple schwannomas suggests a genetic predisposition to tumorogenesis and possible association with neurofibromatosis. However, in very rare cases multiple schwannomas exist without typical features of neurofibromatosis and constitute a clinically and genetically distinct rare syndrome termed schwannomatosis...
January 2016: Ortopedia, Traumatologia, Rehabilitacja
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