The Experts below are selected from a list of 222 Experts worldwide ranked by ideXlab platform
Victor-felix Mautner - One of the best experts on this subject based on the ideXlab platform.
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dorsal root ganglia volume differentiates schwannomatosis and Neurofibromatosis 2
Annals of Neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and Neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of dorsal root ganglia volume in 16 schwannomatosis patients, 14 Neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, dorsal root ganglia hypertrophy was a consistent finding in Neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p < 0.001) but not in schwannomatosis. Dorsal root ganglia may be a vulnerable site in origination of areflexia and sensory loss and a useful diagnostic marker in Neurofibromatosis type 2. Ann Neurol 2018;83:854-857.
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Dorsal root ganglia volume differentiates schwannomatosis and Neurofibromatosis 2.
Annals of neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and Neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of dorsal root ganglia volume in 16 schwannomatosis patients, 14 Neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, dorsal root ganglia hypertrophy was a consistent finding in Neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p
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hybrid neurofibroma schwannoma is overrepresented among schwannomatosis and Neurofibromatosis patients
The American Journal of Surgical Pathology, 2012Co-Authors: Anja Harder, Christian Hagel, Martin Wesemann, Jens Schittenhelm, Susan Fischer, Marcos Tatagiba, Christoph Nagel, Astrid Jeibmann, Axel Bohring, Victor-felix MautnerAbstract:We analyzed the histologic features of peripheral nerve sheath tumors occurring in 14 patients with schwannomatosis. Among a total of 31 tumors, 19 tumors (61%) showed schwannoma-like nodules within a neurofibroma-like tumor, corresponding to hybrid neurofibroma/schwannoma. At least 1 hybrid tumor occurred in 10 of 14 (71%) schwannomatosis patients. We then retrieved cases of hybrid tumors without documented relation to schwannomatosis from our database and identified 41 tumors arising in 23 patients. More than half of these patients (14/23) were reported to suffer from multiple peripheral nerve sheath tumors, favoring a tumor syndrome. Indeed, analysis of clinical records revealed the diagnosis of Neurofibromatosis type 2 (NF2) in 26% (6/23), Neurofibromatosis type 1 (NF1) in 9% (2/23), definite schwannomatosis in 4% (1/23), and possible schwannomatosis in 13% (3/23) of patients with multiple nerve sheath tumors. Our findings suggest that hybrid neurofibroma/schwannoma represents a common tumor type in schwannomatosis and shows a striking association with neurofibromatoses.
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Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and Neurofibromatosis patients.
The American journal of surgical pathology, 2012Co-Authors: Anja Harder, Christian Hagel, Martin Wesemann, Jens Schittenhelm, Susan Fischer, Marcos Tatagiba, Christoph Nagel, Astrid Jeibmann, Axel Bohring, Victor-felix MautnerAbstract:We analyzed the histologic features of peripheral nerve sheath tumors occurring in 14 patients with schwannomatosis. Among a total of 31 tumors, 19 tumors (61%) showed schwannoma-like nodules within a neurofibroma-like tumor, corresponding to hybrid neurofibroma/schwannoma. At least 1 hybrid tumor occurred in 10 of 14 (71%) schwannomatosis patients. We then retrieved cases of hybrid tumors without documented relation to schwannomatosis from our database and identified 41 tumors arising in 23 patients. More than half of these patients (14/23) were reported to suffer from multiple peripheral nerve sheath tumors, favoring a tumor syndrome. Indeed, analysis of clinical records revealed the diagnosis of Neurofibromatosis type 2 (NF2) in 26% (6/23), Neurofibromatosis type 1 (NF1) in 9% (2/23), definite schwannomatosis in 4% (1/23), and possible schwannomatosis in 13% (3/23) of patients with multiple nerve sheath tumors. Our findings suggest that hybrid neurofibroma/schwannoma represents a common tumor type in schwannomatosis and shows a striking association with neurofibromatoses.
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Diagnostic criteria for schwannomatosis
Neurology, 2005Co-Authors: Mia Maccollin, D G R Evans, Victor-felix Mautner, E A Chiocca, Jan M. Friedman, R. Horvitz, Diego Jaramillo, Michael H. Lev, M. Niimura, Scott R. PlotkinAbstract:The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the nerve sheath. Schwannomatosis is a recently recognized third major form of Neurofibromatosis (NF) that causes multiple schwannomas without vestibular tumors diagnostic of NF2. Patients with schwannomatosis represent 2.4 to 5% of all patients requiring schwannoma resection and approximately one third of patients with schwannomatosis have anatomically localized disease with tumors limited to a single limb or segment of spine. Epidemiologic studies suggest that schwannomatosis is as common as NF2, but that familial occurrence is inexplicably rare. Patients with schwannomatosis overwhelmingly present with pain, and pain remains the primary clinical problem and indication for surgery. Diagnostic criteria for schwannomatosis are needed for both clinicians and researchers, but final diagnostic certainly will await the identification of the schwannomatosis locus itself.
David F. Barker - One of the best experts on this subject based on the ideXlab platform.
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Clinical variability of type 1 Neurofibromatosis: is there a Neurofibromatosis-Noonan syndrome?
Journal of medical genetics, 1992Co-Authors: Harvey J. Stern, Howard M. Saal, Julia S. Lee, Pamela R. Fain, David E. Goldgar, Kenneth N. Rosenbaum, David F. BarkerAbstract:Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 Neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, micrognathia, short stature, and learning disability). Subjects have been described previously whose features have overlapped with Neurofibromatosis and Noonan syndrome, and it has been suggested that these persons might represent a separate condition. DNA haplotype analysis showed linkage of the Neurofibromatosis phenotype seen in this family to the proximal long arm of chromosome 17 in the region where the type 1 Neurofibromatosis gene has been mapped. These results imply that the Noonan phenotype seen in some patients with type 1 Neurofibromatosis might be the result of variable or variant expression of the Neurofibromatosis gene on chromosome 17. The possible role of non-specific factors, such as fetal hypotonia, in producing the Neurofibromatosis-Noonan phenotype needs further investigation. The availability of closely linked and intragenic molecular markers for Neurofibromatosis could potentially be useful in the diagnosis and characterisation of patients and families with atypical forms of Neurofibromatosis.
Bruce R. Korf - One of the best experts on this subject based on the ideXlab platform.
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Pathophysiology of Neurofibromatosis type 1.
Annals of internal medicine, 2006Co-Authors: Amy Theos, Bruce R. KorfAbstract:Neurofibromatoses are inherited disorders, designated as Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2, and schwannomatosis, that tend to result in benign tumors of the nerve sheath. Muc...
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The diagnostic evaluation and multidisciplinary management of Neurofibromatosis 1 and Neurofibromatosis 2.
JAMA, 1997Co-Authors: David H Gutmann, Bruce R. Korf, Arthur S. Aylsworth, John C. Carey, Joan Marks, Reed E. Pyeritz, Allan E. Rubenstein, David ViskochilAbstract:Objective. —Neurofibromatosis 1 and Neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for Neurofibromatosis 1 and Neurofibromatosis 2. Our objective was to determine the diagnostic criteria for Neurofibromatosis 1 and Neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders. Data Sources. —Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings. Study Selection. —All studies were reviewed and analyzed by consensus from multiple authors. Data Extraction. —Peer-reviewed published data were critically evaluated by independent extraction by multiple authors. Data Synthesis. —The main results of the review were qualitative and were reviewed by Neurofibromatosis clinical directors worldwide through an Internet Web site. Conclusions. —On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with Neurofibromatosis 1 and Neurofibromatosis 2.
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Neurocutaneous syndromes: Neurofibromatosis 1, Neurofibromatosis 2, and tuberous sclerosis.
Current opinion in neurology, 1997Co-Authors: Bruce R. KorfAbstract:Neurofibromatosis 1, Neurofibromatosis 2, and tuberous sclerosis are a set of dominantly transmitted disorders that have in common the tendency towards formation of tumors of the nervous system and other tissues. The genes for Neurofibromatosis 1, Neurofibromatosis 2, and one of two forms of tuberous sclerosis have been identified and appear to act as tumor suppressor genes. Information is accumulating about pathogenesis that may eventually improve our ability to diagnose and treat these disorders.
Gareth D Evans - One of the best experts on this subject based on the ideXlab platform.
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from process to progress 2017 international conference on Neurofibromatosis 1 Neurofibromatosis 2 and schwannomatosis
American Journal of Medical Genetics Part A, 2019Co-Authors: Rosalie E Ferner, Eric Legius, Gareth D Evans, Annette Bakker, Ype Elgersma, Marco Giovannini, Alison C Lloyd, Ludwine Messiaen, Scott R. PlotkinAbstract:The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. NF2 and schwannomatosis are rare diseases that are typified by multiple schwannomas that are particularly painful in people with schwannomatosis. Since 1985, the Children's Tumor Foundation (formerly the National Neurofibromatosis Foundation) has hosted an international Neurofibromatosis Conference, bringing together international participants who are focused on NF research and clinical care. The 2017 Conference, held in Washington, DC, was among the largest gatherings of NF researchers to date and included presentations from clinicians and basic scientists, highlighting new data regarding the molecular and cellular mechanisms underlying each of these diseases as well as results from clinical studies and clinical trials. This article summarizes the findings presented at the meeting and represents the current state-of-the art for NF research.
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cancer and central nervous system tumor surveillance in pediatric Neurofibromatosis 2 and related disorders
Clinical Cancer Research, 2017Co-Authors: Vivian Y. Chang, Gareth D Evans, Hector Salvador, Ayelet Erez, Stephan D Voss, Harriet Druker, Hamish S Scott, Uri TaboriAbstract:The neurofibromatoses consist of at least three autosomal-dominant inherited disorders: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and schwannomatosis. For over 80 years, these conditions were inextricably tied together under generalized Neurofibromatosis. In 1987, the localization of NF1 to chromosome 17q and NF2 (bilateral vestibular schwannoma) to 22q led to a consensus conference at Bethesda, Maryland. The two main neurofibromatoses, NF1 and NF2, were formally separated. More recently, the SMARCB1 and LZTR1 genes on 22q have been confirmed as causing a subset of schwannomatosis. The last 26 years have seen a great improvement in understanding of the clinical and molecular features of these conditions as well as insights into management. Childhood presentation of NF2 (often with meningioma) in particular predicts a severe multitumor disease course. Malignancy is rare in NF2, particularly in childhood; however, there are substantial risks from benign and low-grade central nervous system (CNS) tumors necessitating MRI surveillance to optimize management. At least annual brain MRI, including high-resolution images through the auditory meatus, and a clinical examination and auditory assessment are required from diagnosis or from around 10 to 12 years of age if asymptomatic. Spinal imaging at baseline and every 2 to 3 years is advised with more frequent imaging if warranted on the basis of sites of tumor involvement. The malignancy risk in schwannomatosis is not well defined but may include an increased risk of malignant peripheral nerve sheath tumor in SMARCB1 Imaging protocols are also proposed for SMARCB1 and LZTR1 schwannomatosis and SMARCE1-related meningioma predisposition. Clin Cancer Res; 23(12); e54-e61. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.
Anja Harder - One of the best experts on this subject based on the ideXlab platform.
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hybrid neurofibroma schwannoma is overrepresented among schwannomatosis and Neurofibromatosis patients
The American Journal of Surgical Pathology, 2012Co-Authors: Anja Harder, Christian Hagel, Martin Wesemann, Jens Schittenhelm, Susan Fischer, Marcos Tatagiba, Christoph Nagel, Astrid Jeibmann, Axel Bohring, Victor-felix MautnerAbstract:We analyzed the histologic features of peripheral nerve sheath tumors occurring in 14 patients with schwannomatosis. Among a total of 31 tumors, 19 tumors (61%) showed schwannoma-like nodules within a neurofibroma-like tumor, corresponding to hybrid neurofibroma/schwannoma. At least 1 hybrid tumor occurred in 10 of 14 (71%) schwannomatosis patients. We then retrieved cases of hybrid tumors without documented relation to schwannomatosis from our database and identified 41 tumors arising in 23 patients. More than half of these patients (14/23) were reported to suffer from multiple peripheral nerve sheath tumors, favoring a tumor syndrome. Indeed, analysis of clinical records revealed the diagnosis of Neurofibromatosis type 2 (NF2) in 26% (6/23), Neurofibromatosis type 1 (NF1) in 9% (2/23), definite schwannomatosis in 4% (1/23), and possible schwannomatosis in 13% (3/23) of patients with multiple nerve sheath tumors. Our findings suggest that hybrid neurofibroma/schwannoma represents a common tumor type in schwannomatosis and shows a striking association with neurofibromatoses.
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Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and Neurofibromatosis patients.
The American journal of surgical pathology, 2012Co-Authors: Anja Harder, Christian Hagel, Martin Wesemann, Jens Schittenhelm, Susan Fischer, Marcos Tatagiba, Christoph Nagel, Astrid Jeibmann, Axel Bohring, Victor-felix MautnerAbstract:We analyzed the histologic features of peripheral nerve sheath tumors occurring in 14 patients with schwannomatosis. Among a total of 31 tumors, 19 tumors (61%) showed schwannoma-like nodules within a neurofibroma-like tumor, corresponding to hybrid neurofibroma/schwannoma. At least 1 hybrid tumor occurred in 10 of 14 (71%) schwannomatosis patients. We then retrieved cases of hybrid tumors without documented relation to schwannomatosis from our database and identified 41 tumors arising in 23 patients. More than half of these patients (14/23) were reported to suffer from multiple peripheral nerve sheath tumors, favoring a tumor syndrome. Indeed, analysis of clinical records revealed the diagnosis of Neurofibromatosis type 2 (NF2) in 26% (6/23), Neurofibromatosis type 1 (NF1) in 9% (2/23), definite schwannomatosis in 4% (1/23), and possible schwannomatosis in 13% (3/23) of patients with multiple nerve sheath tumors. Our findings suggest that hybrid neurofibroma/schwannoma represents a common tumor type in schwannomatosis and shows a striking association with neurofibromatoses.
