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1. Full Text No small surprise – small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour
by Foulkes, William D and Clarke, Blaise A and Hasselblatt, Martin and Majewski, Jacek and Albrecht, Steffen and McCluggage, W Glenn
The Journal of Pathology, ISSN 0022-3417, 07/2014, Volume 233, Issue 3, pp. 209 - 214
Whole‐exome sequencing ( WES ) is revolutionizing medical diagnostics and taxonomy. In less than 5 years since its first use, WES has revealed unexpected... 
SMARCB1 | rhabdoid tumour | small cell carcinoma of the ovary | hypercalcaemic type | EXOME | NEOPLASMS | GERM-LINE | PATHOLOGY | CANCER | ONCOLOGY | IMMUNOHISTOCHEMICAL ANALYSIS | SMARCA4 MUTATIONS | GENE-EXPRESSION | HSNF5/INI1 | KIDNEY | NATIONAL-WILMS-TUMOR | Immunohistochemistry | Carcinoma, Small Cell - genetics | Humans | Ovarian Neoplasms - pathology | Rhabdoid Tumor - pathology | Exome | Ovarian Neoplasms - genetics | SMARCB1 Protein | Carcinoma, Small Cell - chemistry | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Hypercalcemia - genetics | Genetic Predisposition to Disease | Ovarian Neoplasms - chemistry | Hypercalcemia - pathology | Genetic Association Studies | Biomarkers, Tumor - analysis | Rhabdoid Tumor - chemistry | Hypercalcemia - metabolism | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Chromosomal Proteins, Non-Histone - genetics | Phenotype | Rhabdoid Tumor - genetics | Biomarkers, Tumor - genetics | Mutation | Carcinoma, Small Cell - pathology | Carcinoma | Ovarian cancer | Cancer | Index Medicus
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2. Full Text Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes
by Johann, Pascal D and Erkek, Serap and Zapatka, Marc and Kerl, Kornelius and Buchhalter, Ivo and Hovestadt, Volker and Jones, David T.W and Sturm, Dominik and Hermann, Carl and Segura Wang, Maia and Korshunov, Andrey and Rhyzova, Marina and Gröbner, Susanne and Brabetz, Sebastian and Chavez, Lukas and Bens, Susanne and Gröschel, Stefan and Kratochwil, Fabian and Wittmann, Andrea and Sieber, Laura and Geörg, Christina and Wolf, Stefan and Beck, Katja and Oyen, Florian and Capper, David and van Sluis, Peter and Volckmann, Richard and Koster, Jan and Versteeg, Rogier and von Deimling, Andreas and Milde, Till and Witt, Olaf and Kulozik, Andreas E and Ebinger, Martin and Shalaby, Tarek and Grotzer, Michael and Sumerauer, David and Zamecnik, Josef and Mora, Jaume and Jabado, Nada and Taylor, Michael D and Huang, Annie and Aronica, Eleonora and Bertoni, Anna and Radlwimmer, Bernhard and Pietsch, Torsten and Schüller, Ulrich and Schneppenheim, Reinhard and Northcott, Paul A and Korbel, Jan O and Siebert, Reiner and Frühwald, Michael C and Lichter, Peter and Eils, Roland and Gajjar, Amar and Hasselblatt, Martin and Pfister, Stefan M and Kool, Marcel
Cancer Cell, ISSN 1535-6108, 03/2016, Volume 29, Issue 3, pp. 379 - 393
Atypical teratoid/rhabdoid tumor (ATRT) is one of the most common brain tumors in infants. Although the prognosis of ATRT patients is poor, some patients... 
METHYLATION | SUPER-ENHANCERS | ONCOLOGY | CLASSIFICATION | CENTRAL-NERVOUS-SYSTEM | TERATOID RHABDOID TUMORS | MUTATIONS | CANCER | EXPRESSION | RADIATION-THERAPY | CHILDREN | CELL BIOLOGY | SMARCB1 Protein | Rhabdoid Tumor - genetics | Epigenesis, Genetic - genetics | Humans | Brain Neoplasms - genetics | Teratoma - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Chromosomal Proteins, Non-Histone - genetics | RNA sequencing | Epigenetic inheritance | Analysis | Brain tumors | Genomics | Tumors | Index Medicus
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3. Full Text SMARCA4 (BRG1) Loss of Expression Is a Useful Marker for the Diagnosis of Ovarian Small Cell Carcinoma of the Hypercalcemic Type (Ovarian Rhabdoid Tumor): A Comprehensive Analysis of 116 Rare Gynecologic Tumors, 9 Soft Tissue Tumors, and 9 Melanomas
by Karanian-Philippe, Marie and Velasco, Valérie and Longy, Michel and Floquet, Anne and Arnould, Laurent and Coindre, Jean-Michel and Le Naoures-Méar, Cécile and Averous, Gerlinde and Guyon, Frédéric and MacGrogan, Gaëtan and Croce, Sabrina
The American Journal of Surgical Pathology, ISSN 0147-5185, 09/2015, Volume 39, Issue 9, pp. 1197 - 1205
Ovarian small cell carcinoma of the hypercalcemic type (SCCOHT)/ovarian rhabdoid tumor is a rare and highly malignant tumor that typically occurs in young... 
Rhabdoid tumor | Ovary | INI1/SMARCB1 | SMARCA4/BRG1 | Small cell carcinoma hypercalcemic type | SURGERY | SMARCB1 | FUSION | NEOPLASMS | BRG1 | PATHOLOGY | small cell carcinoma hypercalcemic type | SMARCA4 | INI1 | ovary | SARCOMAS | rhabdoid tumor | MUTATIONS | Immunohistochemistry | Predictive Value of Tests | Carcinoma, Small Cell - genetics | Nuclear Proteins - analysis | Humans | Middle Aged | Ovarian Neoplasms - pathology | Sarcoma, Ewing - pathology | Granulosa Cell Tumor - pathology | Rhabdoid Tumor - pathology | Bone Neoplasms - pathology | Ovarian Neoplasms - genetics | Young Adult | Carcinoma, Small Cell - chemistry | Sarcoma, Endometrial Stromal - pathology | Soft Tissue Neoplasms - chemistry | Melanoma - genetics | Bone Neoplasms - chemistry | Adult | Female | Bone Neoplasms - genetics | Melanoma - chemistry | Soft Tissue Neoplasms - genetics | Hypercalcemia - genetics | Diagnosis, Differential | Ovarian Neoplasms - chemistry | Sarcoma, Ewing - chemistry | Hypercalcemia - pathology | Endometrial Neoplasms - chemistry | Biomarkers, Tumor - analysis | Rhabdoid Tumor - chemistry | Hypercalcemia - metabolism | Melanoma - pathology | Sarcoma, Endometrial Stromal - chemistry | Rhabdoid Tumor - genetics | Biopsy | Adolescent | Soft Tissue Neoplasms - pathology | DNA Helicases - analysis | Endometrial Neoplasms - pathology | Granulosa Cell Tumor - chemistry | Biomarkers, Tumor - genetics | Transcription Factors - analysis | Carcinoma, Small Cell - pathology | Neoplasm Staging | Sarcoma, Ewing - genetics | Index Medicus
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4. Full Text SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation
by Wang, Xiaofeng and Lee, Ryan S and Alver, Burak H and Haswell, Jeffrey R and Wang, Su and Mieczkowski, Jakub and Drier, Yotam and Gillespie, Shawn M and Archer, Tenley C and Wu, Jennifer N and Tzvetkov, Evgeni P and Troisi, Emma C and Pomeroy, Scott L and Biegel, Jaclyn A and Tolstorukov, Michael Y and Bernstein, Bradley E and Park, Peter J and Roberts, Charles W.M
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 2, pp. 289 - 295
SMARCB1 (also known as SNF5, INI1, and BAF47), a core subunit of the SWI/SNF (BAF) chromatin-remodeling complex(1,2), is inactivated in nearly all pediatric... 
RHABDOID TUMORS | TRANSCRIPTION FACTORS | TRANSFORMATION | SUPPRESSOR | SUPER-ENHANCERS | CELL IDENTITY | GENES | GENETICS & HEREDITY | MUTATIONS | ATYPICAL TERATOID/RHABDOID TUMORS | CANCER | Rhabdoid Tumor - genetics | Epigenesis, Genetic - genetics | Humans | Cell Line, Tumor | SMARCB1 Protein - genetics | Chromatin Assembly and Disassembly - genetics | Enhancer Elements, Genetic - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nuclear Proteins - genetics | Chromatin - genetics | Epigenetic inheritance | Cellular proteins | Genetic aspects | Gene expression | Health aspects | Carcinogenesis | Medical research | Scholarships & fellowships | Brain research | Genomes | Mutation | Experiments | Children & youth | Tumors | Cancer | Index Medicus
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5. Full Text Durable tumor regression in genetically altered malignant rhabdoid tumors by inhibition of methyltransferase EZH2
by Sarah K. Knutson and Natalie M. Warholic and Tim J. Wigle and Christine R. Klaus and Christina J. Allain and Alejandra Raimondi and Margaret Porter Scott and Richard Chesworth and Mikel P. Moyer and Robert A. Copeland and Victoria M. Richon and Roy M. Pollock and Kevin W. Kuntz and Heike Keilhack
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2013, Volume 110, Issue 19, pp. 7922 - 7927
Inactivation of the switch/sucrose nonfermentable complex component SMARCB1 is extremely prevalent in pediatrie malignant rhabdoid tumors (MRTs) or atypical... 
Cell culture techniques | Cell lines | Cell cycle | Histones | Rhabdoid tumors | Gene expression | Heterologous transplantation | Tumors | Cancer | Apoptosis | Epigenetic cancer therapy | EZH2 inhibitor | CELLS | MULTIDISCIPLINARY SCIENCES | LEADS | LYMPHOMA | PROLIFERATION | epigenetic cancer therapy | POLYCOMB | CANCER | Polycomb Repressive Complex 2 - antagonists & inhibitors | Neoplasm Transplantation | Cell Proliferation | Epigenesis, Genetic | Humans | Gene Expression Profiling | Enhancer of Zeste Homolog 2 Protein | Neoplasms - drug therapy | Rhabdoid Tumor - enzymology | Neoplasms - therapy | Animals | Rhabdoid Tumor - genetics | Biphenyl Compounds - pharmacology | Drug Design | HEK293 Cells | Cell Line, Tumor | Antineoplastic Agents - pharmacology | Mice | Pyridines - pharmacology | Histones - metabolism | Neoplasms - pathology | Methyltransferases | Physiological aspects | Genetic aspects | Research | Health aspects | Proteins | Rodents | Oncology | Biochemistry | Bioavailability | Index Medicus | Biological Sciences
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6. Full Text SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters
by Nakayama, Robert T and Pulice, John L and Valencia, Alfredo M and McBride, Matthew J and McKenzie, Zachary M and Gillespie, Mark A and Ku, Wai Lim and Teng, Mingxiang and Cui, Kairong and Williams, Robert T and Cassel, Seth H and Qing, He and Widmer, Christian J and Demetri, George D and Irizarry, Rafael A and Zhao, Keji and Ranish, Jeffrey A and Kadoch, Cigall
Nature Genetics, ISSN 1061-4036, 11/2017, Volume 49, Issue 11, pp. 1613 - 1623
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... 
CHROMATIN REMODELING COMPLEX | DISRUPTION | SUPER-ENHANCERS | SUPPRESSOR GENE | SWI/SNF COMPLEXES | CELL IDENTITY | GENETICS & HEREDITY | MUTATIONS | POLYCOMB | GENOME | MALIGNANT RHABDOID TUMORS | Chromatin - metabolism | Humans | Gene Expression Regulation, Neoplastic | SMARCB1 Protein - genetics | Polycomb-Group Proteins - metabolism | Rhabdoid Tumor - pathology | Carcinogenesis - metabolism | Genetic Complementation Test | Rhabdoid Tumor - metabolism | SMARCB1 Protein - deficiency | Sarcoma - genetics | Chromatin - chemistry | Promoter Regions, Genetic | Chromosomal Proteins, Non-Histone - metabolism | Carcinogenesis - genetics | Chromatin Assembly and Disassembly | Transcription Factors - genetics | Sarcoma - pathology | Chromosomal Proteins, Non-Histone - genetics | Carcinogenesis - pathology | Sarcoma - metabolism | Transcription Factors - metabolism | Rhabdoid Tumor - genetics | Enhancer Elements, Genetic | Polycomb-Group Proteins - genetics | Cell Line, Tumor | Cellular proteins | Genetic aspects | Gene expression | Health aspects | Carcinogenesis | Malignant rhabdoid tumor | Pediatrics | Chromatin | Deactivation | Sarcoma | Ontology | Activation | Genomes | Tumor cell lines | Mammals | Inactivation | Promoters | Proteins | Consortia | Polycomb group proteins | Enhancers | Collaboration | Cell lines | Stem cells | Epigenetics | Tumorigenesis | Bioinformatics | Cancer | Index Medicus
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7. Full Text Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic–pathological correlation
by Angelini, Paola and Chalker, Jane and Austin, Nicola and Hing, Sandra and Paine, Simon M.L and Mankad, Kshitij and Hargrave, Darren and Jacques, Thomas S
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 10/2015, Volume 41, Issue 6, pp. 832 - 836
ATYPICAL TERATOID/RHABDOID TUMOR | PATHOLOGY | GANGLIOGLIOMA | CANCER | NEUROSCIENCES | CLINICAL NEUROLOGY | Humans | Brain Neoplasms - pathology | Brain Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Genetic Heterogeneity | Chromosomal Proteins, Non-Histone - genetics | SMARCB1 Protein | Histones - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | Fatal Outcome | Female | Mutation | Brain tumors
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8. Full Text Familial rhabdoid tumour 'avant la lettre'—from pathology review to exome sequencing and back again
by Witkowski, Leora and Lalonde, Emilie and Zhang, Jian and Albrecht, Steffen and Hamel, Nancy and Cavallone, Luca and May, Sandra Thompson and Nicholson, James C and Coleman, Nicholas and Murray, Matthew J and Tauber, Peter F and Huntsman, David G and Schönberger, Stefan and Yandell, David and Hasselblatt, Martin and Tischkowitz, Marc D and Majewski, Jacek and Foulkes, William D
The Journal of Pathology, ISSN 0022-3417, 09/2013, Volume 231, Issue 1, pp. 35 - 43
Here we provide compelling evidence that next‐generation sequencing will revolutionize diagnostics. We reappraised a case from 1991, published in 1993,... 
exome sequencing | ovarian | chromatin remodelling | cancer | rhabdoid tumour | germ cell tumour | SMARCA4 | Chromatin remodelling | Exome sequencing | Rhabdoid tumour | Germ cell tumour | Ovarian | Cancer | Humans | Teratoma - diagnosis | Male | Ovarian Neoplasms - genetics | DNA Mutational Analysis | Diagnostic Errors | Biomarkers, Tumor - metabolism | Female | Ovarian Neoplasms - metabolism | Rhabdoid Tumor - metabolism | Tumor Cells, Cultured | Nuclear Proteins - genetics | DNA Helicases - genetics | Genetic Predisposition to Disease | Ovarian Neoplasms - diagnosis | Nuclear Proteins - metabolism | Transcription Factors - genetics | Transcription Factors - metabolism | DNA Helicases - metabolism | Exome - genetics | Rhabdoid Tumor - genetics | Pedigree | Chromosome Aberrations | Biomarkers, Tumor - genetics | Rhabdoid Tumor - diagnosis | DNA, Neoplasm - genetics | Mutation | Genes, Dominant - genetics | Sequence Analysis, DNA - methods | Genetic aspects | Tumors | Index Medicus
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9. Full Text Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome
by Schneppenheim, Reinhard and Frühwald, Michael C and Gesk, Stefan and Hasselblatt, Martin and Jeibmann, Astrid and Kordes, Uwe and Kreuz, Markus and Leuschner, Ivo and Subero, Jose Ignacio Martin and Obser, Tobias and Oyen, Florian and Vater, Inga and Siebert, Reiner
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 279 - 284
Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and... 
HSNF5/INI1 GENE | SWI/SNF COMPLEX | CHROMATIN | BRG1 | GENETICS & HEREDITY | MICE | CELL-LINES | CANCER | BRAIN-TUMORS | Immunohistochemistry | DNA Helicases - chemistry | Genetic Predisposition to Disease | Transcription Factors - chemistry | Humans | Gene Silencing | Molecular Sequence Data | Infant | Male | Rhabdoid Tumor - pathology | Transcription Factors - genetics | Germ-Line Mutation - genetics | Nuclear Proteins - chemistry | Syndrome | Magnetic Resonance Imaging | Rhabdoid Tumor - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Fatal Outcome | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Codon, Nonsense - genetics | Tumor suppressor genes | Chromatin | Research | Gene mutations | Adenosine triphosphatase | Babies | Genetics | Mutation | Tumors | Index Medicus | Report
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10. Full Text Rhabdoid Tumor Predisposition Syndrome
by Sredni, Simone T and Tomita, Tadanori
Pediatric and Developmental Pathology, ISSN 1093-5266, 1/2015, Volume 18, Issue 1, pp. 49 - 58
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... 
Malignant rhabdoid tumors | Schwannomatosis | SMARCB1 | AT/RT | Rhab-doid tumor predisposition syndrome | SMARCA4 | GERMLINE SMARCB1 MUTATION | NATIONAL WILMS-TUMOR | SOFT-TISSUE SARCOMAS | LONG-TERM SURVIVAL | malignant rhabdoid tumors | schwannomatosis | PATHOLOGY | PRIMITIVE NEUROECTODERMAL TUMORS | IMMUNOHISTOCHEMICAL ANALYSIS | EPITHELIOID SARCOMA | rhabdoid tumor predisposition syndrome | PEDIATRICS | CENTRAL-NERVOUS-SYSTEM | ATYPICAL TERATOID/RHABDOID TUMORS | CRIBRIFORM NEUROEPITHELIAL TUMOR | Immunohistochemistry | Age Factors | Humans | Child, Preschool | Family Health | Infant | Male | Neurofibromatoses - genetics | SMARCB1 Protein | Neurilemmoma - genetics | Germ-Line Mutation | Female | Nuclear Proteins - genetics | Child | DNA Helicases - genetics | Infant, Newborn | Diagnosis, Differential | Genetic Predisposition to Disease | Rhabdoid Tumor - classification | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Rhabdoid Tumor - genetics | Skin Neoplasms - genetics | Rhabdoid Tumor - diagnosis | Index Medicus
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11. Full Text Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways
by Chun, Hye-Jung E and Lim, Emilia L and Heravi-Moussavi, Alireza and Saberi, Saeed and Mungall, Andrew J and Mungall, Karen L and Bilenky, Mikhail and Carles, Annaick and Tse, Kane and Shlafman, Inna and Zhu, Kelsey and Qian, Jenny Q and Palmquist, Diana L and He, An and Long, William and Goya, Rodrigo and Ng, Michelle and LeBlanc, Veronique G and Pleasance, Erin and Thiessen, Nina and Wong, Tina and Chuah, Eric and Zhao, Yong-Jun and Schein, Jacquie E and Gerhard, Daniela S and Taylor, Michael D and Moore, Richard A and Ma, Yussanne and Jones, Steven J.M and Perlman, Elizabeth J and Hirst, Martin and Marra, Marco A
Cancer Cell, ISSN 1535-6108, 03/2016, Volume 29, Issue 3, pp. 394 - 406
Malignant rhabdoid tumors (MRTs) are rare lethal tumors of childhood that most commonly occur in the kidney and brain. MRTs are driven by SMARCB1 loss, but the... 
SUPPRESSOR SNF5 LEADS | PROMOTER CPG METHYLATION | ONCOLOGY | INTEGRATIVE ANALYSIS | LONG-TERM SURVIVAL | EPIGENETIC INACTIVATION | CELL-CYCLE | ATYPICAL TERATOID/RHABDOID TUMORS | LARGE GENE LISTS | MICRORNA EXPRESSION PROFILES | NATIONAL-WILMS-TUMOR | CELL BIOLOGY | Gene Expression - genetics | Humans | Gene Expression Regulation, Developmental - genetics | DNA Methylation - genetics | Transcriptome - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | SMARCB1 Protein | Histones - genetics | Rhabdoid Tumor - genetics | Cell Line, Tumor | MicroRNAs - genetics | Sulfites | Medical colleges | Children's hospitals | Genes | Brain tumors | Genomics | Genomes | Gene expression | MicroRNA | Analysis | Medical genetics | Genetic research | Nucleotide sequencing | Methylation | Cancer | DNA sequencing | Epigenetic inheritance | Index Medicus
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