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Schwannomatosis

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https://www.readbyqxmd.com/read/29780700/sporadic-nf2-mosaic-multiple-spinal-schwannomas-presenting-with-severe-intractable-pain-following-pregnancy
#1
Jeffrey H Zimering, Bryan D Choi, Matthew J Koch, John C Dewitt, Anat Stemmer-Rachamimov, John H Shin
The aim of the present paper is to report undiagnosed sporadic neurofibromatosis type 2 presenting with symptomatic compressive spinal tumors following pregnancy. A 36-year-old woman experienced progressive, severe lumbar radicular pain in the second trimester of pregnancy which became intractable soon after delivery. Magnetic resonance imaging revealed a complex heterogeneous hypointense mass lesion around the conus. There were two small punctate lesions in the cauda equina suggestive of myxopapillary ependymoma with 'drop metastases...
December 2017: Interdisciplinary Neurosurgery: Advanced Techniques and Case Management
https://www.readbyqxmd.com/read/29779243/co-occurrence-of-schwannomatosis-and-rhabdoid-tumor-predisposition-syndrome-1
#2
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor-Felix Mautner
BACKGROUND: The clinical phenotype associated with germline SMARCB1 mutations has as yet not been fully documented. It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. However, the co-occurrence of rhabdoid tumor and schwannomas in the same patient has not so far been reported. METHODS: We investigated a family with members harboring a germline SMARCB1 deletion by means of whole-body MRI as well as high-resolution microstructural magnetic resonance neurography (MRN)...
May 20, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29681099/2016-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-neurofibromatosis-type-2-and-schwannomatosis
#3
Michael J Fisher, Allan J Belzberg, Peter de Blank, Thomas De Raedt, Florent Elefteriou, Rosalie E Ferner, Marco Giovannini, Gordon J Harris, Michel Kalamarides, Matthias A Karajannis, AeRang Kim, Conxi Lázaro, Lu Q Le, Wei Li, Robert Listernick, Staci Martin, Helen Morrison, Eric Pasmant, Nancy Ratner, Elisabeth Schorry, Nicole J Ullrich, David Viskochil, Brian Weiss, Brigitte C Widemann, Yuan Zhu, Annette Bakker, Eduard Serra
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29575626/challenges-associated-with-parenting-youth-with-neurofibromatosis-a-qualitative-investigation
#4
Catherine Pierre-Louis, Tessa Heinhuis, Eric Riklin, Ana-Maria Vranceanu
Parents of children with the neurofibromatoses (NF; neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis) are at an increased risk for emotional and physical health problems. This study aimed to determine parents' perceptions of stressors associated with parenting a child with NF in order to inform the development of a resiliency intervention. We conducted three live video semi structured focus groups with parents of youth with NF (N = 30), which were subsequently transcribed and coded using qualitative content analysis...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29548054/neurofibromatosis-and-schwannomatosis
#5
Scott R Plotkin, Antje Wick
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed...
February 2018: Seminars in Neurology
https://www.readbyqxmd.com/read/29478615/neurofibromatosis-type-1
#6
Patrick J Cimino, David H Gutmann
The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system. While NF1 primarily affects the central and peripheral nervous system, multisystem involvement is the rule, with dermatologic, cardiovascular, gastrointestinal, and orthopedic affectation often reported...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29469988/dorsal-root-ganglia-volume-differentiates-schwannomatosis-and-neurofibromatosis-2
#7
Tim Godel, Victor-Felix Mautner, Said Farschtschi, Mirko Pham, Daniel Schwarz, Moritz Kronlage, Isabel Gugel, Sabine Heiland, Martin Bendszus, Philipp Bäumer
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...
April 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29409008/targeted-next-generation-sequencing-for-differential-diagnosis-of-neurofibromatosis-type-2-schwannomatosis-and-meningiomatosis
#8
Camille Louvrier, Eric Pasmant, Audrey Briand-Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait
Background: Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis, and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of germline and tumor tissues may improve the diagnosis. Methods: We present the targeted next generation sequencing (NGS) of NF2, SMARCB1, LZTR1, SMARCE1, and SUFU tumor suppressor genes, using an amplicon-based approach. We analyzed blood DNA from a cohort of 196 patients, including patients with: NF2 (N=79), schwannomatosis (N=40), meningiomatosis (N=12), and no clearly established diagnosis (N=65)...
February 2, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29397238/hereditary-swi-snf-complex-deficiency-syndromes
#9
REVIEW
Abbas Agaimy, William D Foulkes
The SWItch Sucrose non-fermentable (SWI/SNF) complex is a highly conserved multi-subunit complex of proteins encoded by numerous genes mapped to different chromosomal regions. The complex regulates the process of chromatin remodelling and hence plays a central role in the epigenetic regulation of gene expression, cell proliferation and differentiation. During the last three decades, the SWI/SNF complex has been increasingly recognized as a central molecular event driving the initiation and/or progression of several benign and malignant neoplasms of different anatomic origin and having diverse histomorphological appearance...
February 1, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29388340/early-history-of-the-different-forms-of-neurofibromatosis-from-ancient-egypt-to-the-british-empire-and-beyond-first-descriptions-medical-curiosities-misconceptions-landmarks-and-the-persons-behind-the-syndromes
#10
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29384852/pain-correlates-with-germline-mutation-in-schwannomatosis
#11
Justin T Jordan, Miriam J Smith, James A Walker, Serkan Erdin, Michael E Talkowski, Vanessa L Merker, Vijaya Ramesh, Wenli Cai, Gordon J Harris, Miriam A Bredella, Marlon Seijo, Alessandra Suuberg, James F Gusella, Scott R Plotkin
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29280680/smarcb1-deficient-tumors-of-childhood-a-practical-guide
#12
Bruce R Pawel
The SMARCB1 gene ( INI1, BAF47) is a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex, involved in the epigenetic regulation of gene transcription. SMARCB1 acts as a tumor suppressor gene, and loss of function of both alleles gives rise to SMARCB1-deficient tumors. The prototypical SMARCB1-deficient tumor is the malignant rhabdoid tumor (MRT) which was first described in the kidney but also occurs in soft tissue, viscera, and the brain (where it is referred to as atypical teratoid rhabdoid tumor or AT/RT)...
January 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29261756/rb1-gene-mutations-in-argentine-retinoblastoma-patients-implications-for-genetic-counseling
#13
Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto, Irene Szijan
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-heritable and results from two somatic mutations whereas bilateral retinoblastoma is heritable and results from one germline and one somatic mutation, both have high penetrance, 90%...
2017: PloS One
https://www.readbyqxmd.com/read/29230670/double-somatic-smarcb1-and-nf2-mutations-in-sporadic-spinal-schwannoma
#14
Irene Paganini, Gabriele Lorenzo Capone, Jeremie Vitte, Roberta Sestini, Anna Laura Putignano, Marco Giovannini, Laura Papi
In sporadic schwannomas, inactivation of both copies of the NF2 tumor suppressor gene on 22q is common. Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas. We analysed the frequency of copy number changes on chromosome 22 and the mutation of NF2 and SMARCB1 in 26 sporadic schwannomas. We found two spinal schwannomas with an identical somatic missense mutation in SMARCB1 exon 9: p.(Arg377His)...
March 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29119424/health-literacy-assessment-in-adults-with-neurofibromatosis-electronic-and-short-form-measurement-using-fcchl-and-health-litt
#15
Vanessa L Merker, Sarah McDannold, Eric Riklin, Mojtaba Talaei-Khoei, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
Determining health literacy level is an important prerequisite for effective patient education. We assessed multiple dimensions of health literacy and sociodemographic predictors of health literacy in patients with neurofibromatosis. In 86 individuals with a confirmed diagnosis of neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), or schwannomatosis, we assessed health literacy status using two HL tools-the adapted functional, communicative, and critical health literacy scale (adapted FCCHL) and health literacy assessment using talking touchscreen technology (Health LiTT)...
January 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29041023/-bilateral-giant-schwannoma-of-the-ulnar-nerve-in-a-case-of-schwannomatosis
#16
Marion Mühldorfer-Fodor, Thomas Pillukat, Jörg van Schoonhoven, Karl-Josef Prommersberger
No abstract text is available yet for this article.
October 2017: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/29039258/diagnosis-and-treatment-of-laryngeal-schwannoma-a-systematic-review
#17
Michele Tulli, Stefano Bondi, Chanel Elisha Smart, Leone Giordano, Matteo Trimarchi, Andrea Galli, Davide Di Santo, Matteo Biafora, Mario Bussi
Objective This review summarizes the clinical features, diagnostic workup, and surgical treatment of laryngeal schwannoma with the aim of providing guidance for the management of this rare disease. The collated data allowed the statistical testing of several hypotheses, including the efficacy of endoscopic vs open surgical intervention and the usefulness of preoperative biopsy. Data Sources PubMed, Google Scholar, Cochrane, and SCOPUS. Review Methods Basic epidemiological and clinical presentation data were collated together with details of diagnostic image modality, lesion attributes, and the use of preoperative biopsy...
February 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28781128/six-cases-of-sporadic-schwannomatosis-topographic-distribution-and-outcomes-of-peripheral-nerve-tumors
#18
G Chick, J Victor, N Hollevoet
The diagnosis of schwannomatosis is often overestimated and is based on the existence of multiple peripheral nerve tumors composed exclusively of schwannomas, in the absence of clinical signs of neurofibromatosis type 2 (NF2). Sporadic forms are much more frequent than familial forms. The objective of this study was to describe the distribution of peripheral nerve tumors and investigate the outcomes of schwannomas in the context of sporadic schwannomatosis. We conducted a retrospective study of patients who fulfilled clinical diagnostic criteria for sporadic schwannomatosis...
October 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28696935/revisiting-neurofibromatosis-type-2-diagnostic-criteria-to-exclude-lztr1-related-schwannomatosis
#19
(no author information available yet)
No abstract text is available yet for this article.
July 11, 2017: Neurology
https://www.readbyqxmd.com/read/28686119/management-of-peripheral-nerve-sheath-tumors-17-years-of-experience-at-toronto-western-hospital
#20
Daipayan Guha, Benjamin Davidson, Mustafa Nadi, Naif M Alotaibi, Michael G Fehlings, Fred Gentili, Taufik A Valiante, Charles H Tator, Michael Tymianski, Abhijit Guha, Gelareh Zadeh
OBJECTIVE A surgical series of 201 benign and malignant peripheral nerve sheath tumors (PNSTs) was assessed to characterize the anatomical and clinical presentation of tumors and identify predictors of neurological outcome, recurrence, and extent of resection. METHODS All surgically treated PNSTs from the Division of Neurosurgery at Toronto Western Hospital from 1993 to 2010 were reviewed retrospectively. Data were collected on patient demographics, clinical presentation, surgical technique, extent of resection, postoperative neurological outcomes, and recurrence...
July 7, 2017: Journal of Neurosurgery
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