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https://www.readbyqxmd.com/read/28382842/ewing-sarcoma-and-atypical-teratoid-rhabdoid-tumor
#1
M Cristina Pacheco, Michelle Dolan, Anne Bendel
Ewing sarcoma (ES) and atypical teratoid rhabdoid tumor (ATRT) are high-grade malignancies of childhood, each of which is associated with genetic abnormalities on chromosome 22. ES is typically characterized by rearrangement of the EWSR1 locus and ATRT by deletion of SMARCB1. We report a case with an unusual fluorescence in situ hybridization signal pattern consistent with EWSR1 rearrangement that was shown to have loss of INI1 expression by immunohistochemistry due to deletion in the long arm of one chromosome 22...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28291373/neoadjuvant-chemotherapy-for-atypical-teratoid-rhabdoid-tumors-case-report
#2
Meena Thatikunta, Ian Mutchnick, Jennifer Elster, Matthew P Thompson, Michael A Huang, Aaron C Spalding, Thomas Moriarty
Atypical teratoid rhabdoid tumors (ATRTs) are a rare pediatric brain tumor with high mortality rate. Several large series have reported achieving gross-total resection (GTR) in less than 50% of patients due to the lesions' large size, vascularity, and limited blood volume in young patients. While neoadjuvant chemotherapy for choroid plexus carcinomas in pediatric patients has become widely accepted, it has not been used as widely for other pediatric brain tumors. To the best of the authors' knowledge, there are only 3 published cases of neoadjuvant chemotherapy for ATRTs...
March 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28108836/smad-dependent-signaling-plays-a-detrimental-role-in-a-fly-model-of-smarcb1-deficiency-and-the-biology-of-atypical-teratoid-rhabdoid-tumors
#3
Astrid Jeibmann, Jacqueline Schulz, Kristin Eikmeier, Pascal D Johann, Katharina Thiel, Isabel Tegeder, Oliver Ambrée, Michael C Frühwald, Stefan M Pfister, Marcel Kool, Werner Paulus, Martin Hasselblatt
Atypical teratoid/rhabdoid tumors (ATRT) are highly malignant brain tumors arising in young children. The majority of ATRT is characterized by inactivation of the chromatin remodeling complex member SMARCB1 (INI1/hSNF5). Little is known, however, on downstream pathways involved in the detrimental effects of SMARCB1 deficiency which might also represent targets for treatment. Using Drosophila melanogaster and the Gal4-UAS system, modifier screens were performed in order to identify the role of SMAD dependent signaling in the lethal phenotype associated with knockdown of snr1, the fly homolog of SMARCB1...
January 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28102486/atypical-teratoid-rhabdoid-tumor-in-the-first-year-of-life-the-canadian-atrt-registry-experience-and-review-of-the-literature
#4
Mary Fossey, Haocheng Li, Samina Afzal, Anne-Sophie Carret, David D Eisenstat, Adam Fleming, Juliette Hukin, Cynthia Hawkins, Nada Jabado, Donna Johnston, Tania Brown, Valerie Larouche, Katrin Scheinemann, Douglas Strother, Beverly Wilson, Shayna Zelcer, Annie Huang, Eric Bouffet, Lucie Lafay-Cousin
While 2/3 of patients with ATRT are less than 3 years at diagnosis, the literature suggests younger children present with more aggressive disease and poorer outcome. However, little data exist on characteristics and outcome of patients diagnosed with ATRT in the first year of life. In particular, it is unclear whether they access similar treatments as do older children. We compared the cohort of patients ≤12 months from the Canadian ATRT registry to all cases extracted from the literature reported between 1996 and 2014 to describe their clinical and treatment characteristics, and potential prognostic factors...
January 19, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28025236/otx2-defines-a-subgroup-of-atypical-teratoid-rhabdoid-tumors-with-close-relationship-to-choroid-plexus-tumors
#5
Anna Sophia Japp, Ludger Klein-Hitpass, Dorota Denkhaus, Torsten Pietsch
Atypical teratoid rhabdoid tumors (ATRT) are highly malignant brain tumors of early childhood that have been regarded as a homogenous entity characterized by inactivation of the SMARCB1/INI1 or SMARCA4/BRG1 genes as the only characteristic alteration. Recent studies suggest that similar to other embryonal tumors ATRT can also be divided into subgroups based on their mRNA or methylation profiles. Using microarray-based expression analysis of 12 patient ATRT specimens we demonstrated the existence of 2 subgroups of ATRT...
January 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27960086/integrated-epi-genomic-analyses-identify-subgroup-specific-therapeutic-targets-in-cns-rhabdoid-tumors
#6
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
We recently reported that atypical teratoid rhabdoid tumors (ATRTs) comprise at least two transcriptional subtypes with different clinical outcomes; however, the mechanisms underlying therapeutic heterogeneity remained unclear. In this study, we analyzed 191 primary ATRTs and 10 ATRT cell lines to define the genomic and epigenomic landscape of ATRTs and identify subgroup-specific therapeutic targets. We found ATRTs segregated into three epigenetic subgroups with distinct genomic profiles, SMARCB1 genotypes, and chromatin landscape that correlated with differential cellular responses to a panel of signaling and epigenetic inhibitors...
December 12, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27889024/brain-tumors-in-the-neonate
#7
REVIEW
Karuna V Shekdar, Erin Simon Schwartz
Brain tumors can develop in the prenatal and neonatal time periods. Neuroimaging studies are crucial for the early detection of prenatal and neonatal brain tumors. Imaging allows for characterization of morphology, as well as the detection of hydrocephalus, local invasion, and distant spread. The imaging features of the more common neonatal brain tumors, including teratomas, choroid plexus tumors, ATRTs, and neoplasm mimics are described.
February 2017: Neuroimaging Clinics of North America
https://www.readbyqxmd.com/read/27861763/assessment-of-the-treatment-approach-and-survival-outcomes-in-a-modern-cohort-of-patients-with-atypical-teratoid-rhabdoid-tumors-using-the-national-cancer-database
#8
Benjamin W Fischer-Valuck, Ishita Chen, Amar J Srivastava, John M Floberg, Yuan James Rao, Allison A King, Eric T Shinohara, Stephanie M Perkins
BACKGROUND: Atypical teratoid rhabdoid tumors (ATRTs) are rare brain tumors that occur primarily in children under the age of 3 years. This report evaluates the treatment approach and survival outcomes in a large cohort of patients treated in the United States. METHODS: Using the National Cancer Database, the analysis included all ATRT patients aged 0 to 18 years who were diagnosed between 2004 and 2012 and had complete treatment data. RESULTS: Three hundred sixty-one ATRT patients were evaluated...
February 15, 2017: Cancer
https://www.readbyqxmd.com/read/27745735/all-things-rhabdoid-and-smarc-an-enigmatic-exploration-with-dr-louis-p-dehner
#9
REVIEW
Christine E Fuller
Over the past several decades, our understanding of malignant rhabdoid tumors (MRT) and the central nervous system equivalent atypical teratoid/rhabdoid tumor (ATRT) has undergone considerable refinement, particularly in terms of genetic characterization. MRT (both renal and extra-renal) and ATRT share phenotypic similarities and a common genetic signature, that being inactivating alterations of the SWI/SNF complex component SMARCB1 (or rarely SMARCA4). Unfortunately, a wide array of tumors bears significantly overlapping phenotypic characteristics to MRT/ATRT, posing a formidable diagnostic challenge...
November 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/27734605/description-of-a-new-oncogenic-mechanism-for-atypical-teratoid-rhabdoid-tumors-in-patients-with-ring-chromosome-22
#10
Heather M Byers, Margaret P Adam, Amy LaCroix, Sarah E S Leary, Bonnie Cole, William B Dobyns, Heather C Mefford
Atypical teratoid rhabdoid tumors of the central nervous system are rare, highly malignant, embryonal tumors most often occurring in children under age 3 years. Most are due to a somatic change in tumor suppressor gene SMARCB1 followed by a second-hit, typically loss of heterozygosity, best detected on immunohistochemical staining. Despite the noteworthy genetic homogeneity of atypical teratoid rhabdoid tumors, relatively little is known about the oncogenic mechanisms that lead to biallelic inactivation of SMARCB1...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27672680/a-molecular-take-on-malignant-rhabdoid-tumors
#11
COMMENT
Ming Tang, Roel Gw Verhaak
The molecular basis for the clinical heterogeneity observed in patients with malignant rhabdoid tumors is unknown. Recently, two reports revealed molecular inter-tumor heterogeneity in teratoid/rhabdoid tumors (ATRTs) and extra-cranial MRTs (ecMRTs) using genomic, transcriptomic and epigenomic profiling. Distinct molecular subgroups were identified and new therapeutic targets were revealed.
May 2016: Trends in Cancer
https://www.readbyqxmd.com/read/27467095/ewing-sarcoma-and-atypical-teratoid-rhabdoid-tumor-a-fish-and-immunohistochemical-comparison
#12
M Cristina Pacheco, Michelle Dolan, Anne Bendel
Ewing sarcoma (ES)/primitive neuroectodermal tumor (PNET) and atypical teratoid rhabdoid tumor (ATRT) are high-grade malignancies of childhood, each of which is associated with genetic abnormalities on chromosome 22. ES is typically characterized by rearrangement of the EWSR1 locus and ATRT by deletion of SMARCB1. We report a case with an unusual FISH signal pattern consistent with EWSR1 rearrangement that was shown to have loss of INI1 expression by immunohistochemistry due to deletion in the long arm of one chromosome 22...
July 28, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27421737/immunotherapy-in-atypical-teratoid-rhabdoid-tumors-data-from-a-survey-of-the-hgg-immuno-group
#13
Stefaan W van Gool, Stefan Holm, Johannes Rachor, Lars Adamson, Antje Technau, Eberhard Maass, Michael C Frühwald, Paul G Schlegel, Matthias Eyrich
BACKGROUND AIMS: Atypical rhabdoid/teratoid tumors (AT/RT) are the most common brain tumors in infants and associated with a dismal prognosis. Although intensification of first-line therapy has resulted in improvement of overall survival, novel treatment strategies are needed. Because immunotherapy has resulted in remarkable results in several adult tumor entities, incorporation of immunotherapy into AT/RT treatment offers a novel alternative. METHODS: We retrospectively analyzed data from 7 AT/RT patients from five countries treated within the HGG-Immuno Consortium...
September 2016: Cytotherapy
https://www.readbyqxmd.com/read/27380723/cribriform-neuroepithelial-tumor-crinet-molecular-characterization-of-a-smarcb1-deficient-non-rhabdoid-tumor-with-favorable-long-term-outcome
#14
Pascal D Johann, Volker Hovestadt, Christian Thomas, Astrid Jeibmann, Katharina Heß, Susanne Bens, Florian Oyen, Cynthia Hawkins, Christopher R Pierson, Kenneth Aldape, Sang Pyo Kim, Eva Widing, David Sumerauer, Péter Hauser, Frank van Landeghem, Marina Ryzhova, Andrey Korshunov, David Capper, David T W Jones, Stefan M Pfister, Reinhard Schneppenheim, Reiner Siebert, Werner Paulus, Michael C Frühwald, Marcel Kool, Martin Hasselblatt
Rhabdoid phenotype and loss of SMARCB1 expression in a brain tumor are characteristic features of atypical teratoid/rhabdoid tumors (ATRT). Rare non-rhabdoid brain tumors showing cribriform growth pattern and SMARCB1 loss have been designated cribriform neuroepithelial tumor (CRINET). Small case series suggest that CRINETs may have a relatively favorable prognosis. However, the long-term outcome is unclear and it remains uncertain whether CRINET represents a distinct entity or a variant of ATRT. Therefore, 10 CRINETs were clinically and molecularly characterized and compared with 10 ATRTs of each of three recently described molecular subgroups (i...
July 6, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27370397/inhibition-of-dna-damage-repair-by-the-cdk4-6-inhibitor-palbociclib-delays-irradiated-intracranial-atypical-teratoid-rhabdoid-tumor-and-glioblastoma-xenograft-regrowth
#15
Rintaro Hashizume, Ali Zhang, Sabine Mueller, Michael D Prados, Rishi R Lulla, Stewart Goldman, Amanda M Saratsis, Andrew P Mazar, Alexander H Stegh, Shi-Yuan Cheng, Craig Horbinski, Daphne A Haas-Kogan, Jann N Sarkaria, Todd Waldman, C David James
BACKGROUND: Radiation therapy is the most commonly used postsurgical treatment for primary malignant brain tumors. Consequently, investigating the efficacy of chemotherapeutics combined with radiation for treating malignant brain tumors is of high clinical relevance. In this study, we examined the cyclin-dependent kinase 4/6 inhibitor palbociclib, when used in combination with radiation for treating human atypical teratoid rhabdoid tumor (ATRT) as well as glioblastoma (GBM). METHODS: Evaluation of treatment antitumor activity in vitro was based upon results from cell proliferation assays, clonogenicity assays, flow cytometry, and immunocytochemistry for DNA double-strand break repair...
November 2016: Neuro-oncology
https://www.readbyqxmd.com/read/27299432/infant-brain-tumours-a-tale-of-two-cities
#16
Satyashiva Munjal, Uttara Chatterjee, Matthieu Vinchon, Sandip Chatterjee
INTRODUCTION: Infantile brain tumours (age < 1 year) are increasingly being diagnosed due to advances in prenatal and perinatal diagnostic imaging. We present here our retrospective study of 64 infant brain tumours that brings to the fore the epidemiology, clinical presentation, pathology and outcome of this unique subset of paediatric brain tumours presenting to two tertiary referral centres in Kolkata in India and Lille in France between the years 1999 and 2014. METHODS: Data was retrospectively collected from Kolkata (n = 30) and Lille (n = 34) for patients presenting with infant brain tumours and analysed for factors such as age at presentation, clinical features, gender, location of tumour, pathology, management and outcome...
September 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27272756/long-term-survival-following-additive-radiotherapy-in-patients-with-atypical-teratoid-rhabdoid-tumors
#17
Khaled Elsayad, Jan Kriz, Laith Samhouri, Uwe Haverkamp, Ronald Straeter, Walter Stummer, Hans Theodor Eich
BACKGROUND: Atypical teratoid rhabdoid tumor (ATRT) is a highly aggressive disease of embryonic origin accounting for <5% of all pediatric central nervous system (CNS) tumors. PATIENTS AND METHODS: We describe a series of five cases of CNS ATRT. The first three patients underwent subtotal tumor resection. Gross total resection of the tumor was achieved in the fourth and fifth patients. Only 4 patients received chemotherapy, whereas all 5 patients received additive radiotherapy (RT)...
August 2016: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
https://www.readbyqxmd.com/read/27034140/tandem-high-dose-chemotherapy-and-autologous-stem-cell-transplantation-for-atypical-teratoid-rhabdoid-tumor
#18
Ki Woong Sung, Do Hoon Lim, Eun Sang Yi, Young Bae Choi, Ji Won Lee, Keon Hee Yoo, Hong Hoe Koo, Ji Hye Kim, Yeon-Lim Suh, Yoo Sook Joung, Hyung Jin Shin
PURPOSE: We prospectively evaluated the effectiveness of tandem high-dose chemotherapy and autologous stem cell transplantation (HDCT/auto-SCT) in improving the survival of patients with atypical teratoid/rhabdoid tumors while reducing the risks of late adverse effects from radiotherapy (RT). MATERIALS AND METHODS: For young children (< 3 years old), tandem HDCT/auto-SCT was administered after six cycles of induction chemotherapy. RT was deferred until after 3 years of age unless the tumor showed relapse or progression...
October 2016: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/26977786/cns-cancer-distinct-subtypes-of-atrts-observed
#19
Peter Sidaway
No abstract text is available yet for this article.
May 2016: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/26972402/mechanism-of-all-transretinoic-acid-increasing-retinoblastoma-sensitivity-to-vincristine
#20
Yan Jiang, Lin Zhang
OBJECTIVE: To explore the mechanism of all-transretinoic acid (ATRA) increasing retinoblastoma (RB) sensitivity to vincristine, and the inhibiting effect of vincristine combined with ATRA treatment on the SO-RB50 cell proliferation. METHODS: SO-RB50 cells were cultivated by routine culture method. Different concentrations of vincristine or ATRA were added into culture solution. After 48 h, cell counting kit-8 was used to detect the median inhibitory concentration (IC50) of vincristine combined with ATRT treatment to SO-RB50 cells...
March 2016: Asian Pacific Journal of Tropical Medicine
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