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Select item 88412981.

Current and Emerging Therapeutic Approaches for Extracranial Malignant Rhabdoid Tumors

Karolina Nemes, Pascal D Johann, Stefanie Tüchert, Patrick Melchior, Christian Vokuhl, Reiner Siebert, Rhoikos Furtwängler, Michael C Frühwald

Cancer Manag Res. 2022; 14: 479–498. Published online 2022 Feb 9. doi: 10.2147/CMAR.S289544

PMCID:: PMC8841298

Abstract Article PDF–3.7M

Select item 84842342.

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

M. C. Frühwald, K. Nemes, H. Boztug, M. C. A. Cornips, D. G. Evans, R. Farah, S. Glentis, M. Jorgensen, K. Katsibardi, S. Hirsch, K. Jahnukainen, I. Kventsel, K. Kerl, C. P. Kratz, K. W. Pajtler, U. Kordes, V. Ridola, E. Stutz, F. Bourdeaut

Fam Cancer. 2021; 20(4): 305–316. Published online 2021 Feb 3. doi: 10.1007/s10689-021-00229-1

PMCID:: PMC8484234

Abstract Article PDF–841K

Select item 84218013.

Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review

Rahul N. Prasad, Ulysses G. Gardner, Alexander Yaney, Daniel M. Prevedello, Daniel C. Koboldt, Diana L. Thomas, Elaine R. Mardis, Joshua D. Palmer

Front Oncol. 2021; 11: 721712. Published online 2021 Aug 24. doi: 10.3389/fonc.2021.721712

PMCID:: PMC8421801

Abstract Article PDF–4.1M

Select item 78876974.

Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: clinical features of a single family and comparison of large cohorts

Yamicia D. Connor, Diana Miao, Douglas I. Lin, Cynthia Hayne, Brooke E. Howitt, John L. Dalrymple, Kimberly R. DeLeonardis, Michele R. Hacker, Katharine M Esselen, Meghan Shea

Gynecol Oncol. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Gynecol Oncol. 2020 Apr; 157(1): 106–114. Published online 2020 Jan 15. doi: 10.1016/j.ygyno.2019.10.031

PMCID:: PMC7887697

Abstract Article PDF–1011K

Select item 78474325.

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

Dörthe Holdhof, Pascal D. Johann, Michael Spohn, Michael Bockmayr, Sepehr Safaei, Piyush Joshi, Julien Masliah-Planchon, Ben Ho, Mamy Andrianteranagna, Franck Bourdeaut, Annie Huang, Marcel Kool, Santhosh A. Upadhyaya, Anne E. Bendel, Daniela Indenbirken, William D. Foulkes, Jonathan W. Bush, David Creytens, Uwe Kordes, Michael C. Frühwald, Martin Hasselblatt, Ulrich Schüller

Acta Neuropathol. 2021; 141(2): 291–301. Published online 2020 Dec 17. doi: 10.1007/s00401-020-02250-7

PMCID:: PMC7847432

Abstract Article PDF–1.5M

Select item 76897736.

Incidence of childhood renal tumours: An international population‐based study

Kayo Nakata, Murielle Colombet, Charles A. Stiller, Kathy Pritchard‐Jones, Eva Steliarova‐Foucher, IICC‐3 Contributors

Int J Cancer. 2020 Dec 15; 147(12): 3313–3327. Published online 2020 Jul 22. doi: 10.1002/ijc.33147

PMCID:: PMC7689773

Abstract Article PDF–1.5M

Select item 76115717.

Lineage-Independent Tumors in Bilateral Neuroblastoma

Tim H.H. Coorens, Sarah J. Farndon, Thomas J. Mitchell, Neha Jain, Sangjin Lee, Michael Hubank, Neil Sebire, John Anderson, Sam Behjati

N Engl J Med. Author manuscript; available in PMC 2021 Aug 25.

Published in final edited form as: N Engl J Med. 2020 Nov 5; 383(19): 1860–1865. doi: 10.1056/NEJMoa2000962

PMCID:: PMC7611571

Abstract Article PDF–866K

Select item 74125928.

Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion

Kristopher R. Bosse, Aseem R. Shukla, Bruce Pawel, Kudakwashe R. Chikwava, Mariarita Santi, Laura Tooke, Katherine Castagna, Jaclyn A. Biegel, Rochelle Bagatell

Cancer Genet. Author manuscript; available in PMC 2020 Aug 7.

Published in final edited form as: Cancer Genet. 2014 Sep; 207(9): 415–419. Published online 2014 May 21. doi: 10.1016/j.cancergen.2014.05.007

PMCID:: PMC7412592

Abstract Article PDF–720K

Select item 73399019.

Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors

Michael C Frühwald, Martin Hasselblatt, Karolina Nemes, Susanne Bens, Mona Steinbügl, Pascal D Johann, Kornelius Kerl, Peter Hauser, Eduardo Quiroga, Palma Solano-Paez, Veronica Biassoni, Maria Joao Gil-da-Costa, Martha Perek-Polnik, Marianne van de Wetering, David Sumerauer, Jane Pears, Niklas Stabell, Stefan Holm, Heinz Hengartner, Nicolas U Gerber, Michael Grotzer, Joachim Boos, Martin Ebinger, Stefan Tippelt, Werner Paulus, Rhoikos Furtwängler, Pablo Hernáiz-Driever, Harald Reinhard, Stefan Rutkowski, Paul-Gerhardt Schlegel, Irene Schmid, Rolf-Dieter Kortmann, Beate Timmermann, Monika Warmuth-Metz, Uwe Kordes, Joachim Gerss, Karsten Nysom, Reinhard Schneppenheim, Reiner Siebert, Marcel Kool, Norbert Graf

Neuro Oncol. 2020 Jul; 22(7): 1006–1017. Published online 2019 Dec 28. doi: 10.1093/neuonc/noz244

PMCID:: PMC7339901

Abstract Article PDF–711K

Select item 730967810.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome

William D. Foulkes, Junne Kamihara, D. Gareth R. Evans, Laurence Brugières, Franck Bourdeaut, Jan J. Molenaar, Michael F. Walsh, Garrett M. Brodeur, Lisa Diller

Clin Cancer Res. Author manuscript; available in PMC 2020 Jun 23.

Published in final edited form as: Clin Cancer Res. 2017 Jun 15; 23(12): e62–e67. doi: 10.1158/1078-0432.CCR-17-0595

PMCID:: PMC7309678

Abstract Article PDF–80K

Select item 722926011.

Molecular subgrouping of atypical teratoid/rhabdoid tumors—a reinvestigation and current consensus

Ben Ho, Pascal D Johann, Yura Grabovska, Mamy Jean De Dieu Andrianteranagna, Fupan Yao, Michael Frühwald, Martin Hasselblatt, Franck Bourdeaut, Daniel Williamson, Annie Huang, Marcel Kool

Neuro Oncol. 2020 May; 22(5): 613–624. Published online 2019 Dec 31. doi: 10.1093/neuonc/noz235

Correction in:: Neuro Oncol. 2022 Jul; 24(7): 1213.

PMCID:: PMC7229260

Abstract Article PDF–7.4M

Select item 714558912.

Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children’s Oncology Group Trial ACNS0333

Alyssa T. Reddy, Douglas R. Strother, Alexander R. Judkins, Peter C. Burger, Ian F. Pollack, Mark D. Krailo, Allen B. Buxton, Chris Williams-Hughes, Maryam Fouladi, Anita Mahajan, Thomas E. Merchant, Ben Ho, Claire M. Mazewski, Victor A. Lewis, Amar Gajjar, Louis-Gilbert Vezina, Timothy N. Booth, Kerry W. Parsons, Vicky L. Poss, Tianni Zhou, Jaclyn A. Biegel, Annie Huang

J Clin Oncol. 2020 Apr 10; 38(11): 1175–1185. Published online 2020 Feb 27. doi: 10.1200/JCO.19.01776

PMCID:: PMC7145589

Abstract Article PDF–841K

Select item 690543313.

Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration

Hye-Jung E. Chun, Pascal D. Johann, Katy Milne, Marc Zapatka, Annette Buellesbach, Naveed Ishaque, Murat Iskar, Serap Erkek, Lisa Wei, Basile Tessier-Cloutier, Jake Lever, Emma Titmuss, James T. Topham, Reanne Bowlby, Eric Chuah, Karen L. Mungall, Yussanne Ma, Andrew J. Mungall, Richard A. Moore, Michael D. Taylor, Daniela S. Gerhard, Steven J.M. Jones, Andrey Korshunov, Manfred Gessler, Kornelius Kerl, Martin Hasselblatt, Michael C. Frühwald, Elizabeth J. Perlman, Brad H. Nelson, Stefan M. Pfister, Marco A. Marra, Marcel Kool

Cell Rep. Author manuscript; available in PMC 2019 Dec 11.

Published in final edited form as: Cell Rep. 2019 Nov 19; 29(8): 2338–2354.e7. Published online 2019 Nov 7. doi: 10.1016/j.celrep.2019.10.013

PMCID:: PMC6905433

Abstract Article PDF–3.5M

Select item 687612614.

The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type

Leora Witkowski, Catherine Goudie, Pilar Ramos, Talia Boshari, Jean-Sebastien Brunet, Anthony N. Karnezis, Michel Longy, James A. Knost, Emmanouil Saloustros, W. Glenn McCluggage, Colin J.R. Stewart, William P.D. Hendricks, Heather Cunliffe, David G. Huntsman, Patricia Pautier, Douglas A. Levine, Jeffrey M. Trent, Andrew Berchuck, Martin Hasselblatt, William D. Foulkes

Gynecol Oncol. Author manuscript; available in PMC 2019 Nov 25.

Published in final edited form as: Gynecol Oncol. 2016 Jun; 141(3): 454–460. Published online 2016 Mar 19. doi: 10.1016/j.ygyno.2016.03.013

PMCID:: PMC6876126

Abstract Article PDF–810K

Select item 640222815.

The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type

Tanja Pejovic, W. Glenn McCluggage, Adam J. Krieg, Fuhua Xu, David M. Lee, Leora Witkowski, William D. Foulkes

Gynecol Oncol Rep. 2019 May; 28: 47–49. Published online 2019 Feb 17. doi: 10.1016/j.gore.2019.02.002

Correction in:: Gynecol Oncol Rep. 2021 Feb; 35: 100704.

PMCID:: PMC6402228

Abstract Article PDF–1.5M

Select item 608122416.

Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

Hildegard Kehrer‐Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor‐Felix Mautner

Mol Genet Genomic Med. 2018 Jul; 6(4): 627–637. Published online 2018 May 20. doi: 10.1002/mgg3.412

PMCID:: PMC6081224

Abstract Article PDF–2.8M

Select item 605797017.

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Till Holsten, Susanne Bens, Florian Oyen, Karolina Nemes, Martin Hasselblatt, Uwe Kordes, Reiner Siebert, Michael C. Frühwald, Reinhard Schneppenheim, Ulrich Schüller

Eur J Hum Genet. 2018 Aug; 26(8): 1083–1093. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0143-1

PMCID:: PMC6057970

Abstract Article PDF–1.2M

Select item 600570218.

DNMT and HDAC inhibitors induce cryptic transcription start sites encoded in long terminal repeats

David Brocks, Christopher R. Schmidt, Michael Daskalakis, Hyo Sik Jang, Nakul M. Shah, Daofeng Li, Jing Li, Bo Zhang, Yiran Hou, Sara Laudato, Daniel B. Lipka, Johanna Schott, Holger Bierhoff, Yassen Assenov, Monika Helf, Alzbeta Ressnerova, Md Saiful Islam, Anders M. Lindroth, Simon Haas, Marieke Essers, Charles D. Imbusch, Benedikt Brors, Ina Oehme, Olaf Witt, Michael Lübbert, Jan-Philipp Mallm, Karsten Rippe, Rainer Will, Dieter Weichenhan, Georg Stoecklin, Clarissa Gerhäuser, Christopher C. Oakes, Ting Wang, Christoph Plass

Nat Genet. Author manuscript; available in PMC 2018 Jun 18.

Published in final edited form as: Nat Genet. 2017 Jul; 49(7): 1052–1060. Published online 2017 Jun 12. doi: 10.1038/ng.3889

PMCID:: PMC6005702

Abstract Article PDF–1.0M

Select item 560121219.

SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi

J Pathol. 2017 Sep; 243(1): 9–15. Published online 2017 Jul 25. doi: 10.1002/path.4926

PMCID:: PMC5601212

Abstract Article PDF–2.2M

Select item 550091120.

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors

Jonathon Torchia, Brian Golbourn, Shengrui Feng, King Ching Ho, Patrick Sin-Chan, Alexandre Vasiljevic, Joseph D. Norman, Paul Guilhamon, Livia Garzia, Natalia R. Agamez, Mei Lu, Tiffany S. Chan, Daniel Picard, Pasqualino de Antonellis, Dong-Anh Khuong-Quang, Aline C. Planello, Constanze Zeller, Dalia Barsyte-Lovejoy, Lucie Lafay-Cousin, Louis Letourneau, Mathieu Bourgey, Man Yu, Deena M.A. Gendoo, Misko Dzamba, Mark Barszczyk, Tiago Medina, Alexandra N. Riemenschneider, A. Sorana Morrissy, Young-Shin Ra, Vijay Ramaswamy, Marc Remke, Christopher P. Dunham, Stephen Yip, Ho-keung Ng, Jian-Qiang Lu, Vivek Mehta, Steffen Albrecht, Jose Pimentel, Jennifer A. Chan, Gino R. Somers, Claudia C. Faria, Lucia Roque, Maryam Fouladi, Lindsey M. Hoffman, Andrew S. Moore, Yin Wang, Seung Ah Choi, Jordan R. Hansford, Daniel Catchpoole, Diane K. Birks, Nicholas K. Foreman, Doug Strother, Almos Klekner, Laszló Bognár, Miklós Garami, Péter Hauser, Tibor Hortobágyi, Beverly Wilson, Juliette Hukin, Anne-Sophie Carret, Timothy E. Van Meter, Eugene I. Hwang, Amar Gajjar, Shih-Hwa Chiou, Hideo Nakamura, Helen Toledano, Iris Fried, Daniel Fults, Takafumi Wataya, Chris Fryer, David D. Eisenstat, Katrin Scheinemann, Adam J. Fleming, Donna L. Johnston, Jean Michaud, Shayna Zelcer, Robert Hammond, Samina Afzal, David A. Ramsay, Nongnuch Sirachainan, Suradej Hongeng, Noppadol Larbcharoensub, Richard G. Grundy, Rishi R. Lulla, Jason R. Fangusaro, Harriet Druker, Ute Bartels, Ronald Grant, David Malkin, C. Jane McGlade, Theodore Nicolaides, Tarik Tihan, Joanna Phillips, Jacek Majewski, Alexandre Montpetit, Guillaume Bourque, Gary D. Bader, Alyssa T. Reddy, G. Yancey Gillespie, Monika Warmuth-Metz, Stefan Rutkowski, Uri Tabori, Mathieu Lupien, Michael Brudno, Ulrich Schüller, Torsten Pietsch, Alexander R. Judkins, Cynthia E. Hawkins, Eric Bouffet, Seung-Ki Kim, Peter B. Dirks, Michael D. Taylor, Anat Erdreich-Epstein, Cheryl H. Arrowsmith, Daniel D. De Carvalho, James T. Rutka, Nada Jabado, Annie Huang

Cancer Cell. Author manuscript; available in PMC 2017 Jul 7.

Published in final edited form as: Cancer Cell. 2016 Dec 12; 30(6): 891–908. doi: 10.1016/j.ccell.2016.11.003