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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
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
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
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
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
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
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
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)...
2015: Molecular Cancer
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
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
Ryu Jokoji, Jun-ichiro Ikeda, Masahiko Tsujimoto, Eiichi Morii
Recently, we encountered a biopsy of epithelioid rabdomyosarcoma with lymph node metastasis. A computed tomography (CT) scan showed number of swollen lymph nodes in the left neck and a huge abdominal mass occupying the right kidney. In the lymph node biopsy, tumor cells showed diffuse sheet-like growth reminiscent of carcinoma and melanoma cells with extensive distribution of coagulation necrosis. Tumor cells had abundant amphophilic cytoplasm and clear large nuclei. Most tumor cells showed severe cytologic atypia manifested in prominent nucleoli and pleomorphic nuclei...
2015: Diagnostic Pathology
Maysa Al-Hussaini, Noreen Dissi, Cyrine Souki, Nisreen Amayiri
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare tumor of the CNS mostly seen in infants and is often associated with a dismal outcome. Despite the heterogeneous morphology and/or immunoprofile, its diagnosis nowadays relies on the negative INI-1/BAF47 nuclear immunostain in tumor cells. We aim to investigate a number of immunohistochemical antibodies as potential diagnostic and prognostic markers. All AT/RT cases in patients younger than 18 years of age were included. Demographics, clinical features and outcome were collected...
February 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Satoru Oita, Keita Terui, Syugo Komatsu, Tomoro Hishiki, Takeshi Saito, Tetsuya Mitsunaga, Mitsuyuki Nakata, Hideo Yoshida
Malignant rhabdoid tumor (MRT) is a rare and aggressive malignancy associated with poor outcomes. MRT of the liver is even rarer, and little information has been described. We report the case of an 8-month-old boy with MRT of the liver. The tumor showed aggressive progression despite a multidisciplinary approach, and the patient died due to multiple organ failure 14 days after admission. Autopsy revealed the liver tumor and multiple metastases with negative immunohistochemistry for INI1/BAF47. A review of 53 cases of pediatric MRT of the liver is provided...
February 24, 2015: Pediatric Reports
Bharat Rekhi, Ulrich Vogel
Recently, very few studies have shown value of immunohistochemical (IHC) expression of INI1/SMARCB1 in diagnosis of synovial sarcomas (SSs). This study was aimed at testing reproducibility and utility of this finding. Sixty-eight SSs and 147 other tumours, in the form of various biopsies, were tested for IHC expression of INI1. Twenty-six SSs were further confirmed with positive SS18 rearrangement. Forty monophasic spindle cell type (58.8%), 13 biphasic (19.1%), 12 poorly differentiated (17.6%) and three calcifying SSs (4...
July 2015: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
David L Stockman, Jonathan L Curry, Carlos A Torres-Cabala, Ian R Watson, Alan E Siroy, Roland L Bassett, Lihua Zou, Keyur P Patel, Rajyalakshmi Luthra, Michael A Davies, Jennifer A Wargo, Mark A Routbort, Russell R Broaddus, Victor G Prieto, Alexander J Lazar, Michael T Tetzlaff
BACKGROUND: SMARCB1 (INI1/BAF47/SNF5) encodes a part of a multiprotein complex that regulates gene expression through chromatin remodeling. SMARCB1 expression is lost or downregulated in multiple human tumors, including epithelioid sarcoma, meningioma and rhabdoid tumors of the brain, soft tissue and kidney. METHODS: A 46-gene or 50-gene next-generation sequencing AmpliSeq Cancer Panel (Life Technologies; San Francisco, CA, USA) was applied to ∼1400 primary or metastatic melanoma tissues...
May 2015: Journal of Cutaneous Pathology
Sabah Boudjemaa, Arnaud Petit, Linda Dainese, Franck Bourdeaut, Jill Lipsett, Aurore Coulomb
Soft tissue tumors arising in association with genetic or malformation syndromes have been increasingly reported. Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm of infancy and young childhood, characterized by typical morphology and biallelic inactivation of the SMARCB1 (INI1/hSNF5/BAF47) gene on chromosome 22q.2 which encodes a subunit of the SWI/SNF ATP-dependent chromatin remodeling complex. Congenital infantile disseminated MRT represents a unique clinicopathologic presentation of this tumor...
September 2015: Pediatric and Developmental Pathology
Andrew L Folpe, J Kenneth Schoolmeester, W Glenn McCluggage, Lisa M Sullivan, Katharine Castagna, William A Ahrens, Esther Oliva, Jaclyn A Biegel, G Petur Nielsen
Loss of expression of the SMARCB1 (INI1/BAF47/SNF5) tumor-suppressor protein, originally identified in pediatric malignant rhabdoid tumors, has been noted in significant percentages of epithelioid sarcomas of classical and proximal-type and in myoepithelial carcinomas. Epithelioid sarcoma and myoepithelial carcinoma are very rare in the vulvar region, and few of these cases have been evaluated for SMARCB1 protein loss by immunohistochemistry (IHC) or for SMARCB1 gene alterations by molecular genetic techniques...
June 2015: American Journal of Surgical Pathology
Melanie F Weingart, Jacquelyn J Roth, Marianne Hutt-Cabezas, Tracy M Busse, Harpreet Kaur, Antoinette Price, Rachael Maynard, Jeffrey Rubens, Isabella Taylor, Xing-Gang Mao, Jingying Xu, Yasumichi Kuwahara, Sariah J Allen, Anat Erdreich-Epstein, Bernard E Weissman, Brent A Orr, Charles G Eberhart, Jaclyn A Biegel, Eric H Raabe
Atypical teratoid rhabdoid tumor (AT/RT) is among the most fatal of all pediatric brain tumors. Aside from loss of function mutations in the SMARCB1 (BAF47/INI1/SNF5) chromatin remodeling gene, little is known of other molecular drivers of AT/RT. LIN28A and LIN28B are stem cell factors that regulate thousands of RNAs and are expressed in aggressive cancers. We identified high-levels of LIN28A and LIN28B in AT/RT primary tumors and cell lines, with corresponding low levels of the LIN28-regulated microRNAs of the let-7 family...
February 20, 2015: Oncotarget
Simone T Sredni, Tadanori Tomita
Rhabdoid tumors (RT), or malignant rhabdoid tumors, are among the most aggressive and lethal forms of human cancer. They can arise in any location in the body but are most commonly observed in the brain, where they are called atypical teratoid/rhabdoid tumors (AT/RT), and in the kidneys, where they are called rhabdoid tumors of the kidney. The vast majority of rhabdoid tumors present with a loss of function in the SMARCB1 gene, also known as INI1, BAF47, and hSNF5, a core member of the SWI/SNF chromatin-remodeling complex...
January 2015: Pediatric and Developmental Pathology
Véronique Joliot, Ouardia Ait-Mohamed, Valentine Battisti, Julien Pontis, Ophélie Philipot, Philippe Robin, Hidenori Ito, Slimane Ait-Si-Ali
Myogenic terminal differentiation is a well-orchestrated process starting with permanent cell cycle exit followed by muscle-specific genetic program activation. Individual SWI/SNF components have been involved in muscle differentiation. Here, we show that the master myogenic differentiation factor MyoD interacts with more than one SWI/SNF subunit, including the catalytic subunit BRG1, BAF53a and the tumor suppressor BAF47/INI1. Downregulation of each of these SWI/SNF subunits inhibits skeletal muscle terminal differentiation but, interestingly, at different differentiation steps and extents...
2014: PloS One
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