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Hikmet Gülşah Tanyıldız, Şule Yeşil, Ceyhun Bozkurt, Mehmet Onur Çandır, Sibel Akpınar-Tekgündüz, Şule Toprak, Deniz Yüksel, Gürses Şahin
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal...
2016: Turkish Journal of Pediatrics
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
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
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
Martino Ruggieri, Andrea D Praticò
Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]...
December 2015: Seminars in Pediatric Neurology
Kenneth J Taubenslag, Hilary H Nickols, James G Chelnis, Louise A Mawn
Benign peripheral nerve sheath tumors such as schwannoma and neurofibroma have long been considered distinct entities. Recently, hybrid tumors demonstrating combined morphological features of neurofibroma and schwannoma have been described, primarily in dermal locations. Only 1 case of hybrid peripheral nerve sheath tumor of the orbit has been reported in the literature. Hybrid morphology is important to recognize because of its association with the neurofibromatoses, including schwannomatosis; however, the paucity of literature on orbital hybrid peripheral nerve sheath tumor poses a diagnostic challenge...
December 14, 2015: Ophthalmic Plastic and Reconstructive Surgery
Yuan-Yuan Wan, Le-Ping Zhng, Jun Wu, Bin Wang
No abstract text is available yet for this article.
October 2015: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Jamie Toms, Jason Harrison, Hope Richard, Adrienne Childers, Evan R Reiter, Robert S Graham
Schwannomas are benign tumors that arise from Schwann cells in the peripheral nervous system. Patients with multiple schwannomas without signs and symptoms of neurofibromatosis Type 1 or 2 have the rare disease schwannomatosis. Tumors in these patients occur along peripheral nerves throughout the body. Mutations of the SMARCB1 gene have been described as one of the predisposing genetic factors in the development of this disease. This report describes a patient who was observed for 6 years after having undergone removal of 7 schwannomas, including bilateral maxillary sinus schwannomas, a tumor that has not been previously reported...
January 2016: Journal of Neurosurgery. Spine
Peng Li, Fu Zhao, Jing Zhang, Zhenmin Wang, Xingchao Wang, Bo Wang, Zhijun Yang, Jun Yang, Zhixian Gao, Pinan Liu
OBJECTIVE: The aim of this study was to evaluate the clinical features of spinal schwannomas in patients with schwannomatosis and compare them with a large cohort of patients with solitary schwannomas and neurofibromatosis Type 2 (NF2). METHODS: The study was a retrospective review of 831 patients with solitary schwannomas, 65 with schwannomatosis, and 102 with NF2. The clinical, radiographic, and pathological data were extracted with specific attention to the age at onset, location of tumors, initial symptoms, family history, and treatment outcome...
January 2016: Journal of Neurosurgery. Spine
Charlotte Marie Halvorsen, Pål Rønning, John Hald, Tom Børge Johannesen, Frode Kolstad, Iver A Langmoen, Bjarne Lied, Sigrun Skaar Holme, Eirik Helseth
BACKGROUND: The existing literature on recurrence rates and long-term clinical outcome after resection of intraspinal nerve sheath tumors is limited. OBJECTIVE: To evaluate progression-free survival, overall survival, and long-term clinical outcome in a consecutive series of 131 patients with symptomatic intraspinal nerve sheath tumors. METHODS: Medical charts were retrospectively reviewed. Surviving patients voluntarily participated in a clinical history and physical examination that focused on neurological function and current tumor status...
October 2015: Neurosurgery
Pollyanna Barros Batista, Eny Maria Goloni Bertollo, Danielle de Souza Costa, Lucas Eliam, Karin Soares Gonçalves Cunha, José Renan Cunha-Melo, Luiz Guilherme Darrigo Junior, Mauro Geller, Ingrid Faria Gianordoli-Nascimento, Luciana Gonçalves Madeira, Hérika Martins Mendes, Débora Marques de Miranda, Nikolas Andre Mata-Machado, Eric Grossi Morato, Érika Cristina Pavarino, Luciana Baptista Pereira, Nilton Alves de Rezende, Luíza de Oliveira Rodrigues, Jorge Bezerra Cavalcanti Sette
Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH...
June 2015: Arquivos de Neuro-psiquiatria
Mark D Allen, Stefan M V Freund, Giovanna Zinzalla, Mark Bycroft
SWI/SNF complexes use the energy of ATP hydrolysis to remodel chromatin. In mammals they play a central role in regulating gene expression during differentiation and proliferation. Mutations in SWI/SNF subunits are among the most frequent gene alterations in cancer. The INI1/hSNF5/SMARCB1 subunit is mutated in both malignant rhabdoid tumor, a highly aggressive childhood cancer, and schwannomatosis, a tumor-predisposing syndrome characterized by mostly benign tumors of the CNS. Here, we show that mutations in INI1 that cause schwannomatosis target a hitherto unidentified N-terminal winged helix DNA binding domain that is also present in the BAF45a/PHF10 subunit of the SWI/SNF complex...
July 7, 2015: Structure
H S Füeßl
No abstract text is available yet for this article.
May 13, 2015: MMW Fortschritte der Medizin
Irene Paganini, Roberta Sestini, Matilde Cacciatore, Gabriele L Capone, Luisa Candita, Concetta Paolello, Marta Sbaraglia, Angelo P Dei Tos, Sabrina Rossi, Laura Papi
Schwannomatosis is a tumor predisposition syndrome characterized by development of multiple intracranial, spinal, and peripheral schwannomas. Constitutional alterations in either SMARCB1 or LZTR1 on 22q are responsible of the phenotype. We describe a 34-year-old woman who developed multiple benign peripheral sheath tumors and a uterine leiomyosarcoma. The patient carried a de novo constitutional alteration in exon 8 of SMARCB1, c.1118G > A, which destroyed the splice donor site of intron 8. Two schwannomas and the leiomyosarcoma of the patient retained the SMARCB1 mutation; in addition, the tumors showed loss of the normal chromosome 22...
August 2015: Human Pathology
Chunfang Liu, Jinghui Hu, Ruilai Liu, Weiwei Liu, Tao Zhang, Zhan Ma
The identification of the original cells in tumors may allow for measures that protect the original cells and prevent tumor formation. In the present study, we isolated a subpopulation of cells with the features of neural tumor cells from transformed BMDCs in vitro. These neural tumor cells expressed the markers of neural tumor progenitor cells and differentiated neural tumor cells in vitro. Moreover, the subcloned cells from transformed BMDCs could migrate to distant tissues and drive peripheral neural tumors in vivo...
2015: Cancer Investigation
André Vallejo Da Silva, Fabiana Resende Rodrigues, Mônica Pureza, Vania Gloria Silami Lopes, Karin Soares Cunha
BACKGROUND: Neurofibromatosis 1 is one of the most common genetic diseases in humans, presenting with multiple neurofibromas and an increased risk of various benign and malignant tumors, including breast cancer. CASE PRESENTATION: In this paper we report a case of a woman with neurofibromatosis 1 and the challenge associated with detecting an advanced breast cancer because of numerous skin neurofibromas, which were responsible for a substantial delay in cancer diagnosis...
2015: BMC Cancer
Bruce R Korf
No abstract text is available yet for this article.
May 2015: Clinical Genetics
Ben Shofty, Michal Mauda-Havakuk, Lior Weizman, Shlomi Constantini, Dafna Ben-Bashat, Rina Dvir, Li-Tal Pratt, Leo Joskowicz, Anat Kesler, Michal Yalon, Lior Ravid, Liat Ben-Sira
BACKGROUND: Optic pathway gliomas (OPG) represent 5% of pediatric brain tumors and compose a major therapeutic dilemma to the treating physicians. While chemotherapy is widely used for these tumors, our ability to predict radiological response is still lacking. In this study, we use volumetric imaging to examine in detail the long-term effect of chemotherapy on the tumor as well as its various sub-components. PROCEDURE: The tumors of 15 patients with OPG, treated with chemotherapy, were longitudinally measured using our novel, previously described volumetric method...
August 2015: Pediatric Blood & Cancer
Inbal Gazy, Batia Liefshitz, Oren Parnas, Martin Kupiec
ELG1 is a conserved gene uncovered in a number of genetic screens in yeast aimed at identifying factors important in the maintenance of genome stability. Elg1's activity prevents gross chromosomal rearrangements, maintains proper telomere length regulation, helps repairing DNA damage created by a number of genotoxins and participates in sister chromatid cohesion. Elg1 is evolutionarily conserved, and its mammalian ortholog (also known as ATAD5) is embryonic lethal when lost in mice, acts as a tumor suppressor in mice and humans, exhibits physical interactions with components of the human Fanconi Anemia pathway and may be responsible for some of the phenotypes associated with neurofibromatosis...
January 2015: Mutation Research. Reviews in Mutation Research
Dong-Lai Ma, Jin Hu
A 4-year-old girl presented for evaluation of cutaneous nodules that had been present on the left side of her trunk since birth. Physical examination revealed numerous soft, nontender papules and nodules across the left upper abdomen and wrapping around to the back.
March 5, 2015: New England Journal of Medicine
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