keyword
MENU ▼
Read by QxMD icon Read
search

Schwannomatosis

keyword
https://www.readbyqxmd.com/read/28295212/constitutional-lztr1-mutation-presenting-with-a-unilateral-vestibular-schwannoma-in-a-teenager
#1
Karen W Gripp, Laura Baker, Vinay Kandula, Joseph Piatt, Andrew Walter, Zhenbin Chen, Ludwine Messiaen
Schwannomatosis is a rare neurofibromatosis clinically diagnosed by age-dependent criteria, with bilateral vestibular schwannoma and/or a constitutional NF2 mutation representing exclusion criteria. Following SMARCB1 germline mutations, constitutional mutations in LZTR1 were discovered. We report on the molecular investigation in a patient presenting at 14 years with a unilateral vestibular schwannoma, ultimately causing blindness and unilateral hearing loss, in the absence of other schwannomas or a positive family history...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28250072/neurocutaneous-disorders-in-children
#2
Bruce R Korf, E Martina Bebin
Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come...
March 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28218953/glial-papillary-tumour-of-the-spinal-cord-with-smarcb1-ini1-loss-and-favourable-long-term-outcome
#3
Martin Hasselblatt, Anastasia Dewi Kurniawan, Stephanie Rozsnoki, Pascal D Johann, Susanne Bens, Florian Oyen, Reinhard Schneppenheim, Reiner Siebert, David Capper, Marcel Kool, Christoph Schul, Werner Paulus
Rhabdoid phenotype and biallelic mutations of the SMARCB1 gene causing loss of SMARCB1/INI1 protein expression are the hallmark of atypical teratoid/rhabdoid tumour (AT/RT), a highly malignant central nervous system tumour mainly affecting infants [1]. Loss of SMARCB1/INI1 protein expression has also been described in a variety of other rhabdoid and non-rhabdoid tumour entities including cribriform neuroepithelial tumour (CRINET) [2], poorly differentiated chordoma [3] as well as rhabdoid peripheral nerve sheath tumour [4] and familial schwannomatosis [5]...
February 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28211981/first-report-of-factors-associated-with-satisfaction-in-patients-with-neurofibromatosis
#4
Eric Riklin, Mojtaba Talaei-Kheoi, Vanessa L Merker, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
Patient satisfaction is an integral part of quality health care. We assessed whether health literacy and psychosocial factors are associated with patient satisfaction among adults with neurofibromatosis. Eighty adults (mean age = 44 years; 55% female, 87% white) with NF (50% NF1, 41% NF2, and 9% schwannomatosis) completed an adapted Functional, Communicative, and Critical Health Literacy Questionnaire (FCCHL), the Health Literacy Assessment, a series of Patient Reported Outcome Measures Information System (PROMIS) psychosocial tests, and demographics before the medical visit...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28109176/oncogenic-roles-of-smarcb1-ini1-and-its-deficient-tumors
#5
Kenichi Kohashi, Yoshinao Oda
SMARCB1/INI1 is one of the core subunit proteins of the ATP-dependent SWI/SNF chromatin remodeling complex, and is identified as a potent and bona fide tumor suppressor. Interactions have been demonstrated between SMARCB1/INI1 and key proteins in various pathways related to tumor proliferation and progression: the p16-RB pathway, WNT signaling pathway, sonic hedgehog signaling pathway and Polycomb pathway. Initially, no detectable SMARCB1/INI1 protein expression was found in malignant rhabdoid tumor cells, whereas all other kinds of tumor cells and non-tumorous tissue showed SMARCB1/INI1 protein expression...
January 21, 2017: Cancer Science
https://www.readbyqxmd.com/read/28078568/rediagnosing-one-of-smith-s-patients-john-mccann-with-neuromas-tumours-1849
#6
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his "Treatise on the Pathology, Diagnosis and Treatment of Neuroma", collected six previous examples of "general development of neuromatous tumours" and reported three further cases (two personal and one referred) of what is nowadays known as neurofibromatosis. Among these latter cases, there was a 35-year-old cattle-driver, John McCann, who was first admitted at hospital in 1840 because of a large tumour on the right side of his neck thought to be malignant (and a second tumour sublingually) but not operated...
March 2017: Neurological Sciences
https://www.readbyqxmd.com/read/27958595/childhood-neurofibromatosis-type-2-nf2-and-related-disorders-from-bench-to-bedside-and-biologically-targeted-therapies
#7
M Ruggieri, A D Praticò, A Serra, L Maiolino, S Cocuzza, P Di Mauro, L Licciardello, P Milone, G Privitera, G Belfiore, M Di Pietro, F Di Raimondo, A Romano, A Chiarenza, M Muglia, A Polizzi, D G Evans
Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27921248/the-molecular-pathogenesis-of-schwannomatosis-a-paradigm-for-the-co-involvement-of-multiple-tumour-suppressor-genes-in-tumorigenesis
#8
REVIEW
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours...
February 2017: Human Genetics
https://www.readbyqxmd.com/read/27900643/first-use-of-patient-reported-outcomes-measurement-information-system-promis-measures-in-adults-with-neurofibromatosis
#9
Mojtaba Talaei-Khoei, Eric Riklin, Vanessa L Merker, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
The patient reported outcomes measurement information system (PROMIS) provides clinicians and researchers access to reliable, validated measures of physical, mental, and social well-being. The use of PROMIS can facilitate comparisons among clinical subpopulations and with the U.S. general population. We report on the first study using PROMIS measures in patients with neurofibromatosis (NF). Eighty-six adult patients (mean age = 44; 55% female; 87% white; 50% NF1, 41% NF2 and 9% schwannomatosis) completed a battery of PROMIS computerized adaptive tests (CATs)...
November 29, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27900489/an-association-of-peripheral-nerve-sheath-tumors-and-lipomas
#10
Mohamed A Elsherif, Dusica Babovic-Vuksanovic, Robert J Spinner
BACKGROUND: We noticed the coexistence of peripheral nerve sheath tumors (PNST) with lipomas within a subgroup of our patients. Given the prevalence of lipomas in the general population, we sought to investigate the extent of coexistence of the two entities aiming at uncovering any plausible association between both. METHODS: A retrospective review of all peripheral nerve sheath tumors (sporadic and syndromic forms) treated by a single surgeon between January 2009 and August 2015 was done...
January 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27856782/revisiting-neurofibromatosis-type-2-diagnostic-criteria-to-exclude-lztr1-related-schwannomatosis
#11
Miriam J Smith, Naomi L Bowers, Michael Bulman, Carolyn Gokhale, Andrew J Wallace, Andrew T King, Simon K L Lloyd, Scott A Rutherford, Charlotte L Hammerbeck-Ward, Simon R Freeman, D Gareth Evans
OBJECTIVE: To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors. METHODS: We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40.7%) went on to develop a contralateral VS. We concentrated our genetic analysis on a group of 70 who initially fulfilled NF2 criteria with a unilateral vestibular schwannoma and at least 2 additional nonintradermal schwannomas...
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27807496/schwannomatosis-of-cervical-vagus-nerve
#12
Faheem Ahmed Abdulla, M P Sasi
Cervical vagal schwannoma is a rare entity among lesions presenting as a neck mass. They are usually slow-growing benign lesions closely associated with the vagus nerve. They are usually solitary and asymptomatic. Multiple schwannomas occurring in patients without neurofibromatosis (NF) are rare and have recently been referred to as schwannomatosis. Here, we present a case of a neck mass that had imaging features suggestive of vagal schwannoma and was operated upon. Intraoperatively, it was discovered to be a case of multiple vagal cervical schwannoma, all directly related to the right vagus nerve, and could be resected from the nerve in toto preserving the function of the vagus nerve...
2016: Case Reports in Surgery
https://www.readbyqxmd.com/read/27765635/molecular-analysis-of-hybrid-neurofibroma-schwannoma-identifies-common-monosomy-22-and-%C3%AE-t-catenin-ctnna3-as-a-novel-candidate-tumor-suppressor
#13
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
https://www.readbyqxmd.com/read/27759912/creation-of-an-international-registry-to-support-discovery-in-schwannomatosis
#14
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...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27617150/neurofibromatosis-a-review-of-nf1-nf2-and-schwannomatosis
#15
REVIEW
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
https://www.readbyqxmd.com/read/27593798/addendum-to-spinal-schwannomatosis-case-report-of-a-rare-condition
#16
Tayfun Hakan, Erhan Celikoglu, Fugen Aker, Nagehan Barisik
No abstract text is available yet for this article.
2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27553596/a-diagnostic-dilemma-multiple-primary-intracranial-tumors-without-vestibular-schwannomas
#17
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
https://www.readbyqxmd.com/read/27527649/current-status-and-recommendations-for-biomarkers-and-biobanking-in-neurofibromatosis
#18
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
https://www.readbyqxmd.com/read/27527648/patient-reported-outcomes-of-pain-and-physical-functioning-in-neurofibromatosis-clinical-trials
#19
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
https://www.readbyqxmd.com/read/27527647/current-whole-body-mri-applications-in-the-neurofibromatoses-nf1-nf2-and-schwannomatosis
#20
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
keyword
keyword
120766
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"