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https://www.readbyqxmd.com/read/28910456/identification-of-alk-rearrangements-in-malignant-peritoneal-mesothelioma
#1
Yin P Hung, Fei Dong, Jaclyn C Watkins, Valentina Nardi, Raphael Bueno, Paola Dal Cin, John J Godleski, Christopher P Crum, Lucian R Chirieac
Importance: Malignant peritoneal mesothelioma is a rare, aggressive tumor arising from the peritoneal lining, induced by asbestos, therapeutic radiation, or germline mutations. Nevertheless, the molecular features remain largely unknown. Objective: To investigate anaplastic lymphoma kinase (ALK) rearrangements in a large series of peritoneal mesothelioma and characterize the mutational landscape of these tumors. Design, Setting, and Participants: We studied 88 consecutive patients (39 men, 49 women; median age 61, range 17-84 years) with peritoneal mesotheliomas diagnosed at a single institution between 2005 and 2015...
September 14, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28901666/clinicopathological-and-molecular-characteristics-of-pediatric-meningiomas
#2
Sudha Battu, Anupam Kumar, Pankaj Pathak, Suvendu Purkait, Linchi Dhawan, Mehar C Sharma, Ashish Suri, Manmohan Singh, Chitra Sarkar, Vaishali Suri
Molecular and clinical characteristics of pediatric meningiomas are poorly defined. Therefore, we analyzed clinical, morphological and molecular profiles of pediatric meningiomas. Forty pediatric meningiomas from January 2002 to June 2015 were studied. 1p36, 14q32 and 22q-deletion were assessed by fluorescent in situ hybridization and mutations of most relevant exons of AKT, SMO, KLF4, TRAF and pTERT using sequencing. Expression of GAB1, stathmin, progesterone receptor (PR), p53 along with MIB-1 LI was examined using immunohistochemistry...
September 13, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28900754/surgery-versus-stereotactic-radiosurgery-for-the-treatment-of-multiple-meningiomas-in-neurofibromatosis-type-2-illustrative-case-and-systematic-review
#3
REVIEW
Thien Nguyen, Lawrance K Chung, John P Sheppard, Nikhilesh S Bhatt, Cheng Hao Jacky Chen, Carlito Lagman, Tania Kaprealian, Percy Lee, Phioanh L Nghiemphu, Isaac Yang
Neurofibromatosis type 2 (NF2) is a genetic neoplastic disorder that presents with hallmark bilateral vestibular schwannomas and multiple meningiomas. Though the current standard of care for meningiomas includes surgery, the multiplicity of meningiomas in NF2 patients renders complete resection of all developing lesions infeasible. Stereotactic radiosurgery (SRS) may be a viable non-invasive therapeutic alternative to surgery. We describe a particularly challenging case in a 39-year-old male with over 120 lesions who underwent more than 30 surgical procedures, and review the literature...
September 13, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28884745/clinicopathologic-and-genetic-characteristics-of-young-patients-with-pleural-diffuse-malignant-mesothelioma
#4
Marina Vivero, Raphael Bueno, Lucian R Chirieac
Pleural diffuse malignant mesothelioma typically presents during the seventh decade of life and has poor prognosis. Recent epidemiologic studies have shown differences between young and older mesothelioma patients, but the biology of pleural mesothelioma in young patients is poorly understood. We studied the clinicopathologic and genetic characteristics in pleural mesothelioma patients aged 35 years and younger. Thirty-six consecutive pleural mesothelioma patients aged 35 years and younger were compared with 48 older patients...
September 8, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28882713/a-systematic-review-of-radiosurgery-versus-surgery-for-neurofibromatosis-type-2-vestibular-schwannomas
#5
REVIEW
Lawrance K Chung, Thien P Nguyen, John P Sheppard, Carlito Lagman, Stephen Tenn, Percy Lee, Tania Kaprealian, Robert Chin, Quinton Gopen, Isaac Yang
OBJECTIVE: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas (VS). NF2-associated VS (NF2-VS) are routinely treated with microsurgery; however, stereotactic radiosurgery (SRS) has emerged as an effective alternative in recent decades. To better elucidate the role of SRS in NF2-VS, a systematic review of the literature was conducted to compare outcomes of SRS versus surgery. METHODS: PubMed, Web of Science, Scopus, Embase, and Cochrane databases were queried using relevant search terms...
September 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28870549/altered-expression-of-e-cadherin-related-transcription-factors-indicates-partial-epithelial-mesenchymal-transition-in-aggressive-meningiomas
#6
Maren Wallesch, Doreen Pachow, Christina Blücher, Raimund Firsching, Jan-Peter Warnke, Werner E K Braunsdorf, Elmar Kirches, Christian Mawrin
E-Cadherin has been suggested to be involved in meningioma progression but is also known as a key player of epithelial to mesenchymal transition (EMT). We wondered whether the adherens junction protein E-Cadherin, the tight junction protein Zo-1, and transcription factors suppressing E-Cadherin expression (Slug, Snail, Twist, Zeb-1) are differentially expressed between histopathological subtypes of meningioma, and if the expression of these factors is related to biological features of meningiomas. Analyzing 85 meningiomas of various histopathological subtypes and grades of malignancy by immunohistochemistry and 50 of them in addition by real-Time-PCR, we observed significantly reduced expression of Zeb-1, Twist and Slug, together with slightly increased expression levels for E-Cadherin and Zo- 1 in fibroblastic WHO-grade I tumors compared to meningothelial WHO grade I tumors, contradicting the hypothesis of EMT in the fibroblastic meningiomas characterized by mesenchymal appearance...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28866890/animal-models-of-meningiomas
#7
Christian Mawrin
Meningiomas are frequent intracranial and intraspinal tumors. They are tumors of the elderly, and meningioma growth at certain localizations, as well as recurrent tumors or primary aggressive biology may pose a therapeutic challenge. To understand the growth characteristics of meningiomas, animal models can provide insights both from a biological and therapeutical point of view. Using genetically-engineered mouse models (GEMM), it has been proven that alterations of the neurofibromatosis type 2 (NF2) gene are key steps for benign meningioma development...
June 4, 2017: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/28840075/vestibular-schwannoma-appears-to-be-very-rare-in-a-region-of-sub-saharan-africa
#8
S Ohaegbulam, O Okwunodulu, C Ndubuisi, W Mezue, M Chikani, S Nkwerem, M Ekuma
BACKGROUND: Vestibular schwannoma (VS) is a significant neurosurgical problem hence it enjoys a special attention at conferences and workshops. It accounts for about 8-10% of all intracranial tumors with an annual incidence of about 11-14 per million per year. Most VS are sporadic with 5-10% attributed to neurofibromatosis type 2 (NF2). However, VS is alleged to be rare in Africans and uncommon in African Americans, connoting a racial bias. To our knowledge, no study from sub-Saharan Africa has addressed this subject...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28829357/peritoneal-mesothelioma-with-residential-asbestos-exposure-report-of-a-case-with-long-survival-seventeen-years-analyzed-by-cgh-array
#9
Gabriella Serio, Federica Pezzuto, Andrea Marzullo, Anna Scattone, Domenica Cavone, Alessandra Punzi, Francesco Fortarezza, Mattia Gentile, Antonia Lucia Buonadonna, Mattia Barbareschi, Luigi Vimercati
Malignant mesothelioma is a rare and aggressive tumor with limited therapeutic options. We report a case of a malignant peritoneal mesothelioma (MPM) epithelioid type, with environmental asbestos exposure, in a 36-year-old man, with a long survival (17 years). The patient received standard treatment which included cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS AND RESULTS: Molecular analysis with comparative genomic hybridization (CGH)-array was performed on paraffin-embedded tumoral samples...
August 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28821767/identification-of-candidate-genes-for-devil-facial-tumour-disease-tumourigenesis
#10
Robyn L Taylor, Yiru Zhang, Jennifer P Schöning, Janine E Deakin
Devil facial tumour (DFT) disease, a transmissible cancer where the infectious agent is the tumour itself, has caused a dramatic decrease in Tasmanian devil numbers in the wild. The purpose of this study was to take a candidate gene/pathway approach to identify potentially perturbed genes or pathways in DFT. A fusion of chromosome 1 and X is posited as the initial event leading to the development of DFT, with the rearranged chromosome 1 material now stably maintained as the tumour spreads through the population...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801450/genomic-analysis-of-hairy-cell-leukemia-identifies-novel-recurrent-genetic-alterations
#11
Benjamin H Durham, Bartlomiej Getta, Sascha Dietrich, Justin Taylor, Helen Won, James M Bogenberger, Sasinya Scott, Eunhee Kim, Young Rock Chung, Stephen S Chung, Jennifer Hüllein, Tatjana Walther, Lu Wang, Sydney X Lu, Christopher C Oakes, Raoul Tibes, Torsten Haferlach, Barry S Taylor, Martin S Tallman, Michael F Berger, Jae H Park, Thorsten Zenz, Omar Abdel-Wahab
Classical hairy cell leukemia (cHCL) is characterized by a near 100% frequency of the BRAFV600E mutation while ~30% of variant HCL (vHCL) have MAP2K1 mutations. However, recurrent genetic alterations cooperating with BRAFV600E or MAP2K1 mutations in HCL, as well as those in MAP2K1- wildtype vHCL, are not well defined. We therefore performed deep targeted mutational and copy number analysis of cHCL (n=53) and vHCL (n=8). The most common genetic alteration in cHCL outside of BRAFV600E was heterozygous loss of chromosome 7q, the minimally deleted region of which targeted wildtype BRAF, subdividing cHCL into those hemizygous versus heterozygous for the BRAFV600E mutation...
August 11, 2017: Blood
https://www.readbyqxmd.com/read/28799319/ataxia-in-a-young-female
#12
R Jayanthi, K Monica, K Raja, C S Gauthaman, P P Arunkumar
Neurofibromatosis type 2 (NF2) is a genetically inherited disorder characterized by the presence of multiple central nervous system tumours, most pathognomonic being bilateral vestibular schwannomas with or without peripheral manifestations in the form of cataract or cutaneous neurofibromas. NF2 is an uncommon disorder compared to NF1. We describe a classical case of neurofibromatosis type 2 with florid clinical manifestations and characteristic neuroimaging features. We also briefly describe the literature pertaining to this rare disorder...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28798249/sight-preserving-orbital-decompression-a-novel-multidisciplinary-approach-to-managing-severe-proptosis-in-neurofibromatosis-type-2
#13
George Henry Lafford, Simon James Eccles, Jahrad Haq, Nara Orban
We describe the importance of collaboration between multiple surgical specialties in managing a complex case of sight-threatening severe proptosis in a young woman with type 2 neurofibromatosis (NF2) complicated by pre-existing contralateral blindness. Trans-nasal and lateral orbital surgical approaches were aided by stereotactic navigation to debulk a large frontal/sphenoid wing meningioma, which had been exerting pressure onto the right globe and optic nerve. The patient made an excellent postoperative recovery along with preserved residual visual acuity, normal neurology and a good aesthetic outcome...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28791500/correlation-of-volumetric-growth-and-histological-grade-in-50-meningiomas
#14
Wai Cheong Soon, Daniel M Fountain, Kacper Koczyk, Mutwakil Abdulla, Sachin Giri, Kieren Allinson, Tomasz Matys, Mathew R Guilfoyle, Ramez W Kirollos, Thomas Santarius
INTRODUCTION: Advances in radiological imaging techniques have enabled volumetric measurements of meningiomas to be easily monitored using serial imaging scans. There is limited literature on the relationship between tumour growth rates and the WHO classification of meningiomas despite tumour growth being a major determinant of type and timing of intervention. Volumetric growth has been successfully used to assess growth of low-grade glioma; however, there is limited information on the volumetric growth rate (VGR) of meningiomas...
August 9, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28781128/six-cases-of-sporadic-schwannomatosis-topographic-distribution-and-outcomes-of-peripheral-nerve-tumors
#15
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...
August 3, 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28775249/therapeutic-radiation-for-childhood-cancer-drives-structural-aberrations-of-nf2-in-meningiomas
#16
Sameer Agnihotri, Suganth Suppiah, Peter D Tonge, Shahrzad Jalali, Arnavaz Danesh, Jeffery P Bruce, Yasin Mamatjan, George Klironomos, Lior Gonen, Karolyn Au, Sheila Mansouri, Sharin Karimi, Felix Sahm, Andreas von Deimling, Michael D Taylor, Normand J Laperriere, Trevor J Pugh, Kenneth D Aldape, Gelareh Zadeh
Cranial radiotherapy improves survival of the most common childhood cancers, including brain tumors and leukemia. Unfortunately, long-term survivors are faced with consequences of secondary neoplasia, including radiation-induced meningiomas (RIMs). We characterized 31 RIMs with exome/NF2 intronic sequencing, RNA sequencing and methylation profiling, and found NF2 gene rearrangements in 12/31 of RIMs, an observation previously unreported in sporadic meningioma (SM). Additionally, known recurrent mutations characteristic of SM, including AKT1, KLF4, TRAF7 and SMO, were not observed in RIMs...
August 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28775147/combination-therapy-with-c-met-and-src-inhibitors-induces-caspase-dependent-apoptosis-of-merlin-deficient-schwann-cells-and-suppresses-growth-of-schwannoma-cells
#17
Marisa A Fuse, Stephani Klingeman Plati, Sarah S Burns, Christine T Dinh, Olena Bracho, Denise Yan, Rahul Mittal, Rulong Shen, Julia N Soulakova, Alicja J Copik, Xue Zhong Liu, Fred F Telischi, Long-Sheng Chang, Maria Clara Franco, Cristina Fernandez-Valle
Neurofibromatosis type 2 (NF2) is a nervous system tumor disorder caused by inactivation of the merlin tumor suppressor encoded by the NF2 gene. Bilateral vestibular schwannomas (VS) are a diagnostic hallmark of NF2. Mainstream treatment options for NF2-associated tumors have been limited to surgery and radiotherapy; however, off-label uses of targeted molecular therapies are becoming increasingly common. Here we investigated drugs targeting two kinases activated in NF2-associated schwannomas, c-Met and Src...
August 3, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28774835/current-and-emerging-biomarkers-in-tumors-of-the-central-nervous-system-possible-diagnostic-prognostic-and-therapeutic-applications
#18
REVIEW
Ishaq N Khan, Najeeb Ullah, Deema Hussein, Kulvinder S Saini
Recent investments in research associated with the discovery of specific tumor biomarkers important for efficient diagnosis and prognosis are beginning to bear fruit. Key biomarkers could potentially outweigh traditional radiological or pathological methods by enabling specificity of early detection, when coupled with tumor molecular profiling and clinical associations. Only few biomarkers are approved by regulatory authorities for Central Nervous System Tumors (CNSTs), despite the evaluation of a large number of CNST related markers during clinical trials...
July 31, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28764788/regulation-of-human-glioma-cell-apoptosis-and-invasion-by-mir-152-3p-through-targeting-dnmt1-and-regulating-nf2-mir-152-3p-regulate-glioma-cell-apoptosis-and-invasion
#19
Jin Sun, Xinhua Tian, Junqing Zhang, Yanlin Huang, Xiaoning Lin, Luyue Chen, Shizhong Zhang
BACKGROUND: MiRNAs are involved in aberrant DNA methylation through regulation of DNA methyltransferases (DNMTs) in the pathogenesis and progression of glioblastomas (GBM). MiR-152-3p was down-expressed in human malignancies, and served as a tumor suppressor. Neurofibromatosis type 2 (NF2) was significantly decreased in GBM tissues with a high level of methylation. However, the link between miR-152-3p, DNMT1 and methylation of NF2 in GBM is not clearly established. This study was conducted to detect the mechanism between miR-152-3p, DNMT1 and NF2 in GBM...
August 1, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28759666/association-of-genetic-predisposition-with-solitary-schwannoma-or-meningioma-in-children-and-young-adults
#20
Omar N Pathmanaban, Katherine V Sadler, Ian D Kamaly-Asl, Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Martin G McCabe, John-Paul Kilday, Christian Beetz, Nicola K Poplawski, D Gareth Evans, Miriam J Smith
Importance: Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than 60 years and are rare in children and young adults. Multiple schwannomas and/or meningiomas are more frequently associated with a tumor suppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not. Nevertheless, apparently sporadic tumors in young patients may herald a genetic syndrome. Objective: To determine the frequency of the known heritable meningioma- or schwannoma-predisposing mutations in children and young adults presenting with a solitary meningioma or schwannoma...
September 1, 2017: JAMA Neurology
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