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https://www.readbyqxmd.com/read/29374058/glioma-tumor-suppressor-candidate-region-gene-1-gltscr1-and-its-paralog-gltscr1-like-form-swi-snf-chromatin-remodeling-subcomplexes
#1
Aktan Alpsoy, Emily C Dykhuizen
The mammalian SWI/SNF chromatin remodeling complex is a heterogeneous collection of related protein complexes required for gene regulation and genome integrity. It contains a central ATPase (BRM or BRG1) and various combinations of 10-14 accessory subunits (BAFs for BRM/BRG1 Associated Factors). Two distinct complexes differing in size, BAF and the slightly larger Polybromo-BAF (PBAF), share many of the same core subunits but are differentiated primarily by having either AT-rich interaction domain 1A/B (ARID1A/B in BAF) or ARID2 (in PBAF)...
January 26, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29361006/pediatric-chordomas-results-of-a-multicentric-study-of-40-children-and-proposal-for-a-histopathological-prognostic-grading-system-and-new-therapeutic-strategies
#2
Kévin Beccaria, Arnault Tauziède-Espariat, Franck Monnien, Homa Adle-Biassette, Julien Masliah-Planchon, Gaëlle Pierron, Laetitia Maillot, Marc Polivka, Annie Laquerrière, Sandrine Bouillot-Eimer, Edouard Gimbert, Guillaume Gauchotte, Laurent Coffinet, Henri Sevestre, Claire Alapetite, Stéphanie Bolle, Dominic Thompson, Michel Zérah, Christian Sainte-Rose, Stéphanie Puget, Pascale Varlet
Pediatric chordomas are rare malignant neoplasms, and few data are available for optimizing therapeutic strategies and outcome. This study aimed at evaluating how best to manage them and to identify prognostic factors. This multicentric retrospective study included 40 children diagnosed with chordomas between 1966 and 2012. Clinical, radiological, and histopathological data, treatment modalities, and outcomes were reviewed. The median age was 12 years old. Most chordomas were histologically classical forms (45...
January 18, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29316066/smarcb1-ini1-baf47-deficient-pleural-malignant-mesothelioma-with-rhabdoid-features
#3
Noriko Kimura, Masaru Hasegawa, Kenzo Hiroshima
Malignant mesothelioma (MM) with rhabdoid features is an MM variant. Fifteen cases have been reported previously, all of which were combined with other types of MM. Herein, we report an autopsy case of pleural MM with monomorphic rhabdoid features. The patient was a 62-year-old male without a history of asbestos exposure. An autopsy revealed a soft, granular tumor that replaced the entire left pleura and had invaded to the diaphragm and lower lobe of the lung. The tumor cells, which had eosinophilic plump cytoplasm and eccentric nuclei, were loosely cohesive...
January 5, 2018: Pathology International
https://www.readbyqxmd.com/read/29280680/smarcb1-deficient-tumors-of-childhood-a-practical-guide
#4
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 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28945250/smarcb1-is-required-for-widespread-baf-complex-mediated-activation-of-enhancers-and-bivalent-promoters
#5
Robert T Nakayama, John L Pulice, Alfredo M Valencia, Matthew J McBride, Zachary M McKenzie, Mark A Gillespie, Wai Lim Ku, Mingxiang Teng, Kairong Cui, Robert T Williams, Seth H Cassel, He Qing, Christian J Widmer, George D Demetri, Rafael A Irizarry, Keji Zhao, Jeffrey A Ranish, Cigall Kadoch
Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by which this alteration contributes to tumorigenesis remains poorly understood. We find that BAF47 loss destabilizes BAF complexes on chromatin, absent significant changes in complex assembly or integrity...
November 2017: Nature Genetics
https://www.readbyqxmd.com/read/28521298/insulin-like-growth-factor-2-axis-supports-the-serum-independent-growth-of-malignant-rhabdoid-tumor-and-is-activated-by-microenvironment-stress
#6
Ting Li, Jin Wang, Pengfei Liu, Jiadong Chi, Han Yan, Lei Lei, Zexing Li, Bing Yang, Xi Wang
Malignant rhabdoid tumors (MRTs) are rare, lethal, pediatric tumors predominantly found in the kidney, brain and soft tissues. MRTs are driven by loss of tumor suppressor SNF5/INI1/SMARCB1/BAF47. The prognosis of MRT is poor using currently available treatments, so new treatment targets need to be identified to expand treatment options for patients experiencing chemotherapy resistance. The growth hormone insulin-like growth factor 2 (IGF2) signaling pathway is a promising target to overcome drug resistance in many cancers...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28438634/structural-insights-into-baf47-and-baf155-complex-formation
#7
Li Yan, Si Xie, Yongming Du, Chengmin Qian
Mammalian BAF complexes are a subfamily of SWI/SNF ATP-dependent chromatin remodelers that dynamically modulate chromatin structure to regulate fundamental cellular processes including gene transcription, cell cycle control, and DNA damage response. So far, many distinct BAF complexes have been identified with polymorphic assemblies of up to 15 subunits from 29 genes. The evolutionarily conserved BRG1/BRM, BAF47, and BAF155/BAF170 form a stable complex that carries out essential chromatin remodeling activity and therefore have been regarded as the core components of BAF complex...
June 2, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28054381/rhabdoid-component-emerging-as-a-subclonal-evolution-of-paediatric-glioneuronal-tumours
#8
A Bertrand, C Rondenet, J Masliah-Planchon, P Leblond, A de la Fourchardière, D Pissaloux, K Aït-Raïs, D Lequin, A Jouvet, P Freneaux, H Sevestre, D Ranchere-Vince, A Tauziede-Espariat, C-A Maurage, K Silva, G Pierron, O Delattre, P Varlet, D Frappaz, F Bourdeaut
AIMS: Our study aimed to expand the knowledge of a rare entity: glioma with a rhabdoid component (RC). METHODS: We collected French pediatric patients < 18 years presenting a glioma harboring a RC, either at diagnosis or during evolution. We described clinical, pathological and genetic data. RESULTS: We report 4 further cases of supratentorial pediatric patients presenting glioneuronal tumor with a RC and homozygous deletion of SMARCB1 either at diagnosis or during evolution...
January 5, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27941797/smarcb1-mediated-swi-snf-complex-function-is-essential-for-enhancer-regulation
#9
Xiaofeng Wang, Ryan S Lee, Burak H Alver, Jeffrey R Haswell, Su Wang, Jakub Mieczkowski, Yotam Drier, Shawn M Gillespie, Tenley C Archer, Jennifer N Wu, Evgeni P Tzvetkov, Emma C Troisi, Scott L Pomeroy, Jaclyn A Biegel, Michael Y Tolstorukov, Bradley E Bernstein, Peter J Park, Charles W M Roberts
SMARCB1 (also known as SNF5, INI1, and BAF47), a core subunit of the SWI/SNF (BAF) chromatin-remodeling complex, is inactivated in nearly all pediatric rhabdoid tumors. These aggressive cancers are among the most genomically stable, suggesting an epigenetic mechanism by which SMARCB1 loss drives transformation. Here we show that, despite having indistinguishable mutational landscapes, human rhabdoid tumors exhibit distinct enhancer H3K27ac signatures, which identify remnants of differentiation programs. We show that SMARCB1 is required for the integrity of SWI/SNF complexes and that its loss alters enhancer targeting-markedly impairing SWI/SNF binding to typical enhancers, particularly those required for differentiation, while maintaining SWI/SNF binding at super-enhancers...
February 2017: Nature Genetics
https://www.readbyqxmd.com/read/27772939/value-of-characteristic-weak-to-absent-ini1-smarcb1-baf47-expression-in-diagnosis-of-synovial-sarcomas
#10
Bharat Rekhi, Ulrich Vogel
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27558426/an-essential-role-of-ini1-hsnf5-chromatin-remodeling-protein-in-hiv-1-posttranscriptional-events-and-gag-gag-pol-stability
#11
Annalena La Porte, Jennifer Cano, Xuhong Wu, Doyel Mitra, Ganjam V Kalpana
INI1/hSNF5/SMARCB1/BAF47 is an HIV-specific integrase (IN)-binding protein that influences HIV-1 transcription and particle production. INI1 binds to SAP18 (Sin3a-associated protein, 18 kDa), and both INI1 and SAP18 are incorporated into HIV-1 virions. To determine the significance of INI1 and the INI1-SAP18 interaction during HIV-1 replication, we isolated a panel of SAP18-interaction-defective (SID)-INI1 mutants using a yeast reverse two-hybrid screen. The SID-INI1 mutants, which retained the ability to bind to IN, cMYC, and INI1 but were impaired for binding to SAP18, were tested for their effects on HIV-1 particle production...
November 1, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27267444/myc-interaction-with-the-tumor-suppressive-swi-snf-complex-member-ini1-regulates-transcription-and-cellular-transformation
#12
Angelina Stojanova, William B Tu, Romina Ponzielli, Max Kotlyar, Pak-Kei Chan, Paul C Boutros, Fereshteh Khosravi, Igor Jurisica, Brian Raught, Linda Z Penn
MYC is a key driver of cellular transformation and is deregulated in most human cancers. Studies of MYC and its interactors have provided mechanistic insight into its role as a regulator of gene transcription. MYC has been previously linked to chromatin regulation through its interaction with INI1 (SMARCB1/hSNF5/BAF47), a core member of the SWI/SNF chromatin remodeling complex. INI1 is a potent tumor suppressor that is inactivated in several types of cancers, most prominently as the hallmark alteration in pediatric malignant rhabdoid tumors...
July 2, 2016: Cell Cycle
https://www.readbyqxmd.com/read/27111394/snf5-is-involved-in-suppression-of-hepatocellular-carcinoma-progression-via-tgf-beta-1-signaling
#13
Hongmiao Sun, Xinping Zhong, Chunyu Wang, Shengli Wang, Lin Lin, Renlong Zou, Yi Wu, Ning Sun, Ge Sun, Tao Wen, Zhi-Hong Chi, Yue Zhao
SNF5 (SMARCB1/INI1/BAF47), a core subunit of SWI/SNF complex, has been reported to modulate cell proliferation and apoptosis. Genetic evidence has suggested that SNF5 participates in tumor suppression. However, the detailed biological function and underlying mechanisms of SNF5 in hepatocellular carcinoma (HCC) progression remain unclear. Here, SNF5 expression reduction in HCC tissues compared with the adjacent non-cancerous tissues has been demonstrated. Importantly, the results showed that reduced SNF5 expression has a strong correlation with worse overall survival of HCC patients...
July 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/26978682/atypical-teratoid-rhabdoid-tumor-diagnosis-after-partial-resection-of-dysembryoplastic-neuroepithelial-tumor-case-report-and-review-of-the-literature
#14
Mustafa Nadi, Tahani Ahmad, Annie Huang, Cynthia Hawkins, Eric Bouffet, Abhaya V Kulkarni
Dysembryoplastic neuroepithelial tumors (DNETs) are generally considered benign, slow-growing epilepsy-associated lesions. While rare cases of malignant transformation of DNET to high-grade glial tumors have been reported, to our knowledge there have been no reports of transformation/emergence of DNET to atypical teratoid rhabdoid tumor (AT/RT), a highly aggressive embryonal brain tumor. Here, we report the case of an 8-year-old boy who presented with an incidental finding of a small right insular lesion which grew slowly over 3 years...
2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/26755072/atypical-teratoid-rhabdoid-tumors-current-concepts-advances-in-biology-and-potential-future-therapies
#15
REVIEW
Michael C Frühwald, Jaclyn A Biegel, Franck Bourdeaut, Charles W M Roberts, Susan N Chi
Atypical teratoid/rhabdoid tumor (AT/RT) is the most common malignant CNS tumor of children below 6 months of age. The majority of AT/RTs demonstrate genomic alterations in SMARCB1 (INI1, SNF5, BAF47) or, to a lesser extent, SMARCA4 (BRG1) of the SWItch/sucrose nonfermentable chromatin remodeling complex. Recent transcription and methylation profiling studies suggest the existence of molecular subgroups. Thus, at the root of these seemingly enigmatic tumors lies a network of factors related to epigenetic regulation, which is not yet completely understood...
June 2016: Neuro-oncology
https://www.readbyqxmd.com/read/26571495/ss18-ssx-the-oncogenic-fusion-protein-in-synovial-sarcoma-is-a-cellular-context-dependent-epigenetic-modifier
#16
Sakura Tamaki, Makoto Fukuta, Kazuya Sekiguchi, Yonghui Jin, Sanae Nagata, Kazuo Hayakawa, Sho Hineno, Takeshi Okamoto, Makoto Watanabe, Knut Woltjen, Makoto Ikeya, Tomohisa Kato, Junya Toguchida
The prevalence and specificity of unique fusion oncogenes are high in a number of soft tissue sarcomas (STSs). The close relationship between fusion genes and clinicopathological features suggests that a correlation may exist between the function of fusion proteins and cellular context of the cell-of-origin of each tumor. However, most STSs are origin-unknown tumors and this issue has not yet been investigated in detail. In the present study, we examined the effects of the cellular context on the function of the synovial sarcoma (SS)-specific fusion protein, SS18-SSX, using human pluripotent stem cells (hPSCs) containing the drug-inducible SS18-SSX gene...
2015: PloS One
https://www.readbyqxmd.com/read/26520417/the-diagnostic-utility-of-reduced-immunohistochemical-expression-of-smarcb1-in-synovial-sarcomas-a-validation-study
#17
COMPARATIVE STUDY
Junko Ito, Naofumi Asano, Akira Kawai, Akihiko Yoshida
Synovial sarcoma is a malignant mesenchymal neoplasm of uncertain histogenesis, characterized by a specific SS18-SSX fusion. The diagnosis of synovial sarcoma can be challenging based on morphology and conventional immunohistochemistry alone, and identification of the fusion gene by molecular genetics may be necessary for diagnosis. Several recent studies have demonstrated the diagnostic utility of the reduced expression of SMARCB1 in synovial sarcomas as measured using immunohistochemistry. Therefore, we undertook a validation study using synovial sarcomas and other spindle or round cell tumors that could enter differential diagnosis of monophasic or poorly differentiated synovial sarcomas...
January 2016: Human Pathology
https://www.readbyqxmd.com/read/26370283/phosphoproteomic-analysis-reveals-smarcb1-dependent-egfr-signaling-in-malignant-rhabdoid-tumor-cells
#18
Jonatan Darr, Agnes Klochendler, Sara Isaac, Tamar Geiger, Tami Geiger, Amir Eden
BACKGROUND: The SWI/SNF ATP dependent chromatin remodeling complex is a multi-subunit complex, conserved in eukaryotic evolution that facilitates nucleosomal re-positioning relative to the DNA sequence. In recent years the SWI/SNF complex has emerged to play a role in cancer development as various sub-units of the complex are found to be mutated in a variety of tumors. One core-subunit of the complex, which has been well established as a tumor suppressor gene is SMARCB1 (SNF5/INI1/BAF47)...
September 15, 2015: Molecular Cancer
https://www.readbyqxmd.com/read/26363008/generation-of-a-mouse-model-of-atypical-teratoid-rhabdoid-tumor-of-the-central-nervous-system-through-combined-deletion-of-snf5-and-p53
#19
Jessica M Y Ng, Daniel Martinez, Eric D Marsh, Zhe Zhang, Eric Rappaport, Mariarita Santi, Tom Curran
Malignant rhabdoid tumors arise in several anatomic locations and are associated with poor outcomes. In the brain, these tumors are known as atypical teratoid/rhabdoid tumors (AT/RT). While genetically engineered models for malignant rhabdoid tumors exist, none of them recapitulate AT/RT, for which preclinical models remain lacking. In the majority of AT/RT, LOH occurs at the genetic locus SNF5 (Ini1/BAF47/Smarcb1), which functions as a subunit of the SWI/SNF chromatin-remodeling complex and a tumor suppressor in familial and sporadic malignant rhabdoid tumors...
November 1, 2015: Cancer Research
https://www.readbyqxmd.com/read/26345631/frequent-loss-of-the-expression-of-multiple-subunits-of-the-swi-snf-complex-in-large-cell-carcinoma-and-pleomorphic-carcinoma-of-the-lung
#20
Taichiro Yoshimoto, Daisuke Matsubara, Tomoyuki Nakano, Tomoko Tamura, Shunsuke Endo, Yukihiko Sugiyama, Toshiro Niki
The switch/sucrose non-fermenting (SWI/SNF) complex has recently emerged as a novel tumor suppressor in various human cancers. In the present study, we analyzed the expression of multiple SWI/SNF subunits in primary non-small cell lung cancer (NSCLC). A total of 133 NSCLC, consisting of 25 squamous cell carcinomas (SCC), 70 adenocarcinomas (AD), 16 large cell carcinomas (LC), and 22 pleomorphic carcinomas (PL), were immunohistochemically examined for the expression of BRG1, BRM, BAF47, ARID1A, and ARID1B. The frequency at which reductions in the expression of BRG1 were observed was significantly higher in the LC-PL group (13/38, 34...
November 2015: Pathology International
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