Review
Surgery
Gengyin Guo, Jianfeng Zhuang, Keke Zhang, Zhizhen Zhou, Yanjun Wang, Zhen Zhang
Summary: Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant tumor that primarily affects children and is rarely seen in adults. This report describes two special cases of AT/RT in children under 3 years old and highlights the challenges in diagnosing and treating this tumor.
FRONTIERS IN SURGERY
(2022)
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.
Editorial Material
Clinical Neurology
Rohan Rao, Abigail Koehler, Yehudit Rothman, Brandi Turner, Jamie Denlinger, Melissa Erickson, Matthew Hagen, Timothy S. Braverman, Abdelkader Mahammedi, Karl Golnik, Mario Zuccarello, Yair M. Gozal, E. Randolph Broun, Susan N. Chi, Soma Sengupta
Summary: This case reports a rare 43-year-old female patient with ATRT who responded well to a slightly modified treatment plan.
Article
Medicine, General & Internal
Linlin Meng, Linlin Wang, Guangrui Shao
Summary: AT/RT is a rare and highly malignant tumor of the central nervous system, often diagnosed in children under 4 years of age, with a very poor prognosis. This case study presented a 16-year-old boy with AT/RT in the right parietal lobe, who experienced recurrent tumor and eventually died after 18 months post-surgery, highlighting the importance of active treatment compliance for better outcomes.
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
Oncology
Yen-Lin Liu, Min-Lan Tsai, Chang- Chen, Noi Yar, Ching-Wen Tsai, Hsin-Lun Lee, Chia-Chun Kuo, Wan-Ling Ho, Kevin Li-Chun Hsieh, Sung-Hui Tseng, James S. Miser, Chia-Yau Chang, Hsi Chang, Wen-Chang Huang, Tai-Tong Wong, Alexander T. H. Wu, Yu-Chun Yen
Summary: This study analyzed the characteristics and prognosis of AT/RT patients in Taiwan. The results showed that AT/RT had a higher prevalence in males, in children < 36 months of age, and at infratentorial sites. Older age, presence of the tumor in the supratentorial region, and use of radiotherapy, chemotherapy, or both were associated with better prognosis.
Review
Clinical Neurology
Garret P. Greeneway, Paul S. Page, Viharkumar Patel, Azam S. Ahmed
Summary: This case is the fourth reported case of AT/RT arising from the cerebellum in an adult, and the oldest reported case of a cerebellar AT/RT occurring in a female. Due to limited reports of adult AT/RT cases, little is known about adults with AT/RT, and further reports are needed to improve the general understanding of AT/RT in the adult population.
WORLD NEUROSURGERY
(2021)
Article
Oncology
Hsin-Wei Wu, Chia-Hung Wu, Shih-Chieh Lin, Chih-Chun Wu, Hsin-Hung Chen, Yi-Wei Chen, Yi-Yen Lee, Feng-Chi Chang
Summary: This study aimed to differentiate atypical teratoid rhabdoid tumor (AT/RT) from medulloblastoma based on clinical and MRI features. MRI findings, including lower ADC value, more peritumoral invasion, and absence of the tumor central vein sign, may be helpful in distinguishing AT/RT from medulloblastoma.
Article
Oncology
Cinzia Baiano, Rosa Della Monica, Raduan Ahmed Franca, Maria Laura Del Basso De Caro, Luigi Maria Cavallo, Lorenzo Chiariotti, Tamara Ius, Emmanuel Jouanneau, Teresa Somma
Summary: Atypical teratoid rhabdoid tumor is a rare lesion that mainly occurs in children, with a male preponderance up to 3 years of age, and more than 50% of cases occurring in the cerebellum. This report describes four new cases of sellar AT/RTs, highlighting the clinical, radiological, and pathological features of these rare lesions, with a focus on the possibility of early diagnosis and appropriate therapeutic strategies.
FRONTIERS IN ONCOLOGY
(2022)
Review
Oncology
Akzhol Karim, Kundyz Shaikhyzada, Assel Suleimenova, Bakytkali Ibraimov, Dair Nurgaliev, Dimitri Poddighe
Summary: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly malignant embryonal neoplasm that occurs mainly in infants and young children. It is characterized by rapid growth and poor prognosis. The diagnosis of this tumor is based on immunohistochemical staining for loss of nuclear integrase interactor 1 (INI1) expression. There is currently no validated treatment protocol, and multimodality treatment is commonly used.
FRONTIERS IN ONCOLOGY
(2022)
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
Clinical Neurology
Yuko Ichimiya, Soichi Mizuguchi, Yoshitomo Motomura, Yuhki Koga, Noriyuki Kaku, Nobuhiro Hata, Koji Yoshimoto, Ayumi Sakata, Satoshi O. Suzuki, Toru Iwaki, Yasunari Sakai, Shouichi Ohga
Summary: A 14-month-old boy presented with prolonged seizures and unrecovered consciousness due to a midline tumor diagnosed as AT/RT, leading to death 20 days after admission. EEG monitoring revealed rapid transitions in background activity, highlighting the critical condition caused by some brain tumors.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2021)
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)
Review
Medicine, General & Internal
Rosalinda Calandrelli, Luca Massimi, Fabio Pilato, Tommaso Verdolotti, Antonio Ruggiero, Giorgio Attina, Marco Gessi, Cesare Colosimo
Summary: This study aims to assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) and build a predefined pathway for diagnosis. Clinical evaluation showed that ATRT was more common in children under 3 years old, with infratentorial localization reported more frequently in children under 24 months. Imaging findings revealed that ATRT had a preferential location near the ventricles and liquor spaces, with eccentric cysts as a hallmark feature. Histopathological analysis confirmed the diagnosis using specific immunohistochemical markers. The diagnosis of ATRT is more challenging in adults and relies solely on neuropathological examination.
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)
