Article
Clinical Neurology
Rajiv Pathak, Francesca Zin, Christian Thomas, Susanne Bens, Tenzin Gayden, Jason Karamchandani, Roy W. Dudley, Karolina Nemes, Pascal D. Johann, Florian Oyen, Uwe Kordes, Nada Jabado, Reiner Siebert, Werner Paulus, Marcel Kool, Michael C. Fruhwald, Steffen Albrecht, Ganjam V. Kalpana, Martin Hasselblatt
Summary: Mutations in the tumor suppressor gene SMARCB1 can lead to cytoplasmic localization of the SMARCB1 protein in certain tumors, impacting tumor suppressor function. Inhibiting the nuclear export of mutant SMARCB1 protein may be a potential targeted therapy in these cases.
ACTA NEUROPATHOLOGICA
(2021)
Article
Pathology
Christian Thomas, Aniello Federico, Martin Sill, Susanne Bens, Florian Oyen, Karolina Nemes, Pascal D. Johann, Christian Hartmann, Wolfgang Hartmann, David Sumerauer, Vincenzo Paterno, Amir Samii, Uwe Kordes, Reiner Siebert, Michael C. Fruhwald, Werner Paulus, Marcel Kool, Martin Hasselblatt
Summary: In this study, three cases of malignant central nervous system tumors in children were reported, all located in the temporal lobe. These tumors exhibited molecular features of PXA, including homozygous SMARCB1 region deletions and BRAF V600E mutations. Interestingly, DNA methylation analysis did not group these tumors with AT/RT, highlighting the importance of molecular characterization in identifying such cases.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Oncology
Irina Alimova, Dong Wang, Etienne Danis, Angela Pierce, Andrew Donson, Natalie Serkova, Krishna Madhavan, Senthilnath Lakshmanachetty, Ilango Balakrishnan, Nicholas K. Foreman, Siddhartha Mitra, Sujatha Venkataraman, Rajeev Vibhakar
Summary: Atypical teratoid rhabdoid tumor (ATRT) is an aggressive pediatric brain tumor. Inhibition of MDM2 can effectively suppress the growth of ATRT cells and induce apoptosis, and it can also enhance the sensitivity of ATRT cells to radiation.
INTERNATIONAL JOURNAL OF ONCOLOGY
(2022)
Article
Oncology
Mariangela Sabatella, Tuomo Mantere, Esme Waanders, Kornelia Neveling, Arjen R. Mensenkamp, Freerk van Dijk, Jayne Y. Hehir-Kwa, Ronnie Derks, Michael Kwint, Luke O'Gorman, Madalena Tropa Martins, Corrie E. M. Gidding, Maarten H. Lequin, Benno Kusters, Pieter Wesseling, Marcel Nelen, Jacklyn A. Biegel, Alexander Hoischen, Marjolijn C. Jongmans, Roland P. Kuiper
Summary: In some pediatric cancers, a suspected germline cancer predisposition hinders genetic counseling and testing due to lack of genetic evidence. A study of a family with atypical teratoid rhabdoid tumor revealed a disruptive retrotransposon element in the SMARCB1 gene, undetected by standard techniques, showcasing the power of alternative sequencing methods in identifying complex genomic variations and improving clinical diagnosis and counseling.
JOURNAL OF PATHOLOGY
(2021)
Article
Oncology
Karolina Nemes, Pascal D. Johann, Mona Steinbuegl, Miriam Gruhle, Susanne Bens, Denis Kachanov, Margarita Teleshova, Peter Hauser, Thorsten Simon, Stephan Tippelt, Wolfgang Eberl, Martin Chada, Vicente Santa-Maria Lopez, Lorenz Grigull, Pablo Hernaiz-Driever, Matthias Eyrich, Jane Pears, Till Milde, Harald Reinhard, Alfred Leipold, Marianne van de Wetering, Maria Joao Gil-da-Costa, Georg Ebetsberger-Dachs, Kornelius Kerl, Andreas Lemmer, Heidrun Boztug, Rhoikos Furtwaengler, Uwe Kordes, Christian Vokuhl, Martin Hasselblatt, Brigitte Bison, Thomas Kroencke, Patrick Melchior, Beate Timmermann, Joachim Gerss, Reiner Siebert, Michael C. Fruehwald
Summary: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. A retrospective study was conducted to assess the prognostic factors, genetics, toxicity of treatment and long-term outcomes of MRT. The study found that female sex, localized stage, absence of a GLM, and maintenance therapy were significant predictors of a favorable prognosis in infants with MRT.
Article
Cell Biology
Lena Bluemel, Nan Qin, Johannes Berlandi, Eunice Paisana, Rita Cascao, Carlos Custodia, David Pauck, Daniel Picard, Maike Langini, Kai Stuehler, Frauke-Dorothee Meyer, Sarah Goebbels, Bastian Malzkorn, Max C. Liebau, Joao T. Barata, Astrid Jeibmann, Kornelius Kerl, Serap Erkek, Marcel Kool, Stefan M. Pfister, Pascal D. Johann, Michael C. Fruehwald, Arndt Borkhardt, Guido Reifenberger, Claudia C. Faria, Ute Fischer, Martin Hasselblatt, Jasmin Bartl, Marc Remke
Summary: Primary ciliogenesis plays an important role in the biology of Atypical teratoid/rhabdoid tumor (AT/RT) and its downstream signaling pathway may serve as a novel therapeutic target.
CELL DEATH & DISEASE
(2022)
Article
Clinical Neurology
Marco Crocco, Marta Panciroli, Claudia Milanaccio, Cristina Morerio, Antonio Verrico, Maria Luisa Garre, Natascia Di Iorgi, Valeria Capra
Summary: AT/RTs in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene, but can also result from the constitutional ring chromosome 22. Individuals with r22 may show similar features as those with PMDS, but data on the therapeutic and prognostic implications of r22 in AT/RT and PMDS is limited.
FRONTIERS IN NEUROLOGY
(2021)
Article
Oncology
Ana Marcu, Andreas Schlosser, Anne Keupp, Nico Trautwein, Pascal Johann, Matthias Woelfl, Johanna Lager, Camelia Maria Monoranu, Juliane S. Walz, Lisa M. Henkel, Juergen Krauss, Martin Ebinger, Martin Schuhmann, Ulrich Wilhelm Thomale, Torsten Pietsch, Erdwine Klinker, Paul G. Schlegel, Florian Oyen, Yair Reisner, Hans-Georg Rammensee, Matthias Eyrich
Summary: This study conducted a comprehensive mass spectrometry analysis to identify HLA class I and class II ligands on AT/RTs, revealing a variety of highly immunogenic peptides from canonical and non-canonical protein sources. These findings suggest that inclusion of cryptic peptides into therapeutic vaccines could enhance mapping of tumor cell surface and reduce immune evasion in AT/RT patients.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2021)
Article
Clinical Neurology
M. Zhang, S. W. Wong, S. Lummus, M. Han, A. Radmanesh, S. S. Ahmadian, L. M. Prolo, H. Lai, A. Eghbal, O. Oztekin, S. H. Cheshier, P. G. Fisher, C. Y. Ho, H. Vogel, N. A. Vitanza, R. M. Lober, G. A. Grant, A. Jaju, K. W. Yeom
Summary: This study found that radiomic phenotypes derived from MR imaging can effectively distinguish atypical teratoid/rhabdoid tumors from medulloblastomas. By measuring image intensity, texture, and morphology features, different tumor types can be accurately predicted with high performance.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2021)
Article
Urology & Nephrology
Kristen M. Meier, Jenna Demedis, Michael Edwards, Nicholas G. Cost
Summary: This article presents a rare and aggressive case of extracranial malignant rhabdoid tumors (MRT) and discusses an overview of extracranial MRT tumor biology and treatment considerations.
Article
Oncology
Elizabeth Alva, Jeffrey Rubens, Susan Chi, Tom Rosenberg, Alyssa Reddy, Eric H. Raabe, Ashley Margol
Summary: Atypical teratoid rhabdoid tumors (AT/RT) are aggressive malignant central nervous system tumors with a poor prognosis in young children. Although recent clinical trials have shown promising results, the outcomes are still worse than other embryonal tumors of the central nervous system. This review highlights previous AT/RT clinical trials and promising pre-clinical findings that may lead to novel approaches for this aggressive cancer.
Article
Biochemistry & Molecular Biology
Irene Paassen, Justin Williams, Carla Rios Arceo, Femke Ringnalda, Kimberly Shea Mercer, Juliane L. Buhl, Natalia Moreno, Aniello Federico, Niels E. Franke, Mariette Kranendonk, Santhosh A. Upadhyaya, Kornelius Kerl, Marc van de Wetering, Hans Clevers, Marcel Kool, Eelco W. Hoving, Martine F. Roussel, Jarno Drost
Summary: Establishment of tumoroid models is crucial for the development of subgroup-specific therapies for pediatric brain tumors.
Article
Pathology
Kenichi Kohashi, Hidetaka Yamamoto, Yuichi Yamada, Izumi Kinoshita, Yoshinao Oda
Summary: Loss of SMARCB1 protein expression has been identified in various tumor types such as poorly differentiated chordoma (PCh) and malignant rhabdoid tumor (MRT), including atypical teratoid/rhabdoid tumor (AT/RT). Brachyury expression in SMARCB1-deficient tumors may aid in differentiating between poorly differentiated chordoma and AT/RT, providing important diagnostic and clinicopathological insights.
Article
Clinical Neurology
Francesca Zin, Jennifer A. Cotter, Christine Haberler, Matthias Dottermusch, Julia Neumann, Ulrich Schueller, Leonille Schweizer, Christian Thomas, Karolina Nemes, Pascal D. Johann, Marcel Kool, Michael C. Fruhwald, Werner Paulus, Alexander Judkins, Martin Hasselblatt
Summary: This study aimed to investigate if morphological features of AT/RT might reflect molecular alterations and provide a first hint on molecular subgroup status, which will need to be confirmed by DNA methylation profiling.
Article
Clinical Neurology
Sergio Corvino, Marialaura Del Basso De Caro, Raduan Ahmed Franca, Giuseppe Corazzelli, Rosa Della Monica, Lorenzo Chiariotti, Francesco Maiuri
Summary: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly malignant neoplasm, mainly affecting children but with worse prognosis in adults. Tumor features differ according to their location, which significantly affects the outcome and helps in planning the best treatment strategy.
WORLD NEUROSURGERY
(2023)
Article
Microbiology
Michael Neely, Ashley Margol, Xiaowei Fu, Michael van Guilder, David Bayard, Alan Schumitzky, Regina Orbach, Siyu Liu, Stan Louie, William Hope
ANTIMICROBIAL AGENTS AND CHEMOTHERAPY
(2015)
Article
Oncology
Jingying Xu, Ashley Sloane Margol, Anju Shukla, Xiuhai Ren, Jonathan L. Finlay, Mark D. Krieger, Floyd H. Gilles, Fergus J. Couch, Meraj Aziz, Eric T. Fung, Shahab Asgharzadeh, Michael T. Barrett, Anat Erdreich-Epstein
FRONTIERS IN ONCOLOGY
(2015)
Article
Oncology
Taryn B. Fay-McClymont, Danielle M. Ploetz, Don Mabbott, Karin Walsh, Amy Smith, Susan N. Chi, Elizabeth Wells, Jennifer Madden, Ashley Margol, Jonathan Finlay, Mark W. Kieran, Douglas Strother, Girish Dhall, Roger J. Packer, Nicholas K. Foreman, E. Bouffet, Lucie Lafay-Cousin
JOURNAL OF NEURO-ONCOLOGY
(2017)
Article
Oncology
Nathan J. Robison, Kee Kiat Yeo, Adrian P. Berliner, Jemily Malvar, Michael A. Sheard, Ashley S. Margol, Robert C. Seeger, Teresa Rushing, Jonathan L. Finlay, Richard Sposto, Girish Dhall
JOURNAL OF NEURO-ONCOLOGY
(2018)
Article
Biochemistry & Molecular Biology
Jingying Xu, Ashley Margol, Shahab Asgharzadeh, Anat Erdreich-Epstein
JOURNAL OF CELLULAR BIOCHEMISTRY
(2015)
Article
Oncology
Ashley S. Margol, Kee Kiat Yeo, Caihong Xia, Arzu Onar, Nathan J. Robison, David R. Freyer, Girish Dhall
JOURNAL OF NEURO-ONCOLOGY
(2018)
Article
Clinical Neurology
B. Tamrazi, S. Venneti, A. Margol, D. Hawes, S. Y. Cen, M. Nelson, A. Judkins, J. Biegel, S. Bluml
AMERICAN JOURNAL OF NEURORADIOLOGY
(2019)
Article
Oncology
Kee Kiat Yeo, Ashley S. Margol, Rebekah J. Kennedy, Long Hung, Nathan J. Robison, Girish Dhall, Shahab Asgharzadeh
JOURNAL OF NEURO-ONCOLOGY
(2019)
Article
Oncology
Elizabeth Alva, Jeffrey Rubens, Susan Chi, Tom Rosenberg, Alyssa Reddy, Eric H. Raabe, Ashley Margol
Summary: Atypical teratoid rhabdoid tumors (AT/RT) are aggressive malignant central nervous system tumors with a poor prognosis in young children. Although recent clinical trials have shown promising results, the outcomes are still worse than other embryonal tumors of the central nervous system. This review highlights previous AT/RT clinical trials and promising pre-clinical findings that may lead to novel approaches for this aggressive cancer.
Article
Oncology
Katrina O'Halloran, Venkata Yellapantula, Eirini Christodoulou, Dejerianne Ostrow, Moiz Bootwalla, Jianling Ji, Jennifer Cotter, Nicholas Chapman, Jason Chu, Ashley Margol, Mark D. Krieger, Peter A. Chiarelli, Xiaowu Gai, Jaclyn A. Biegel
Summary: In this study, a comprehensive liquid biopsy platform was developed to detect genome-wide copy number aberrations, sequence variants, and gene fusions in pediatric central nervous system tumors using cerebrospinal fluid. Results showed that abnormalities in cell-free DNA were detected in 24 out of 55 patients, including copy number alterations, sequence variants, and KIAA1549::BRAF fusions.
NEURO-ONCOLOGY ADVANCES
(2023)
Article
Medicine, General & Internal
Julian Sison, Hung Tran, Ashley Margol, Nishant Tiwari, Karla M. Garcia, Jennifer Cotter, Erin Kiehna, Arthur J. Olch, Kenneth Wong
CUREUS JOURNAL OF MEDICAL SCIENCE
(2017)