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
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
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
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
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
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
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
Pascal D. Johann, Lea Altendorf, Emma-Maria Efremova, Till Holsten, Mona Steinbuegl, Karolina Nemes, Alicia Eckhardt, Catena Kresbach, Michael Bockmayr, Arend Koch, Christine Haberler, Manila Antonelli, John DeSisto, Martin U. Schuhmann, Peter Hauser, Reiner Siebert, Susanne Bens, Marcel Kool, Adam L. Green, Martin Hasselblatt, Michael C. Fruehwald, Ulrich Schueller
Summary: This study investigated the molecular characteristics of recurrent AT/RT tumors compared to their matched primary tumors. It found that there were subtle molecular changes, with chromosome 1q gain and chromosome 10 loss being the most common alterations in recurrences. These findings may help identify novel therapeutic targets for AT/RT recurrences.
ACTA NEUROPATHOLOGICA
(2023)
Article
Clinical Neurology
Dorthe 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. Fruhwald, Martin Hasselblatt, Ulrich Schuller
Summary: ATRTs are aggressive childhood malignancies of the central nervous system caused by inactivating mutations in SMARCB1 or SMARCA4 genes. SMARCB1 mutated ATRTs can be divided into three molecular subgroups, while ATRT-SMARCA4 represent a distinct molecular subgroup. The distinction is supported by DNA methylation and RNA sequencing analyses.
ACTA NEUROPATHOLOGICA
(2021)
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)
Article
Multidisciplinary Sciences
Tara T. Doucet-O'Hare, Brianna L. DiSanza, Catherine DeMarino, Abigail L. Atkinson, Jared S. Rosenblum, Lisa J. Henderson, Kory R. Johnson, Jeffrey Kowalak, Marta Garcia-Montojo, Sariah J. Allen, Brent A. Orr, Mariarita Santi, Tongguang Wang, Saeed Fathi, Myoung Hwa Lee, Kevon Sampson, Wenxue Li, Zhengping Zhuang, Avindra Nath
Summary: AT/RT is a rare pediatric CNS cancer often associated with SMARCB1 mutations. This study shows that SMARCB1 regulates HML-2 expression, which in turn affects cell proliferation and gene signaling pathways in AT/RT. The activation of HML-2, dependent on SMARCB1 and its interaction with MYC, may play a crucial role in the pluripotency and formation of these undifferentiated tumors.
SCIENTIFIC REPORTS
(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
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
Cell Biology
Ashlyn Parkhurst, Sabrina Z. Wang, Tyler R. Findlay, Kristen J. Malebranche, Arman Odabas, Jesse Alt, Micah J. Maxwell, Harpreet Kaur, Cody J. Peer, William D. Figg, Katherine E. Warren, Barbara S. Slusher, Charles G. Eberhart, Eric H. Raabe, Jeffrey A. Rubens
Summary: By combining the mTOR inhibitor TAK-228 with the BH3 mimetic Obatoclax, researchers have found that they can slow tumor growth, induce apoptosis and cell death in atypical teratoid/rhabdoid tumors (AT/RT), and activate the integrative stress response. This combination therapy shows promise in improving survival rates in AT/RT.
CELL DEATH & DISEASE
(2022)
Letter
Oncology
Nicolas Andre
PEDIATRIC BLOOD & CANCER
(2023)
Review
Oncology
Coline Puvilland, Carine Villanueva, Anaelle Hemmendinger, Laure Kornreich, Iva Gueorguieva, Melodie-Anne Karnoub, Pierre Aurelien Beuriat, Pierre Leblond
Summary: Growth hormone replacement therapy does not increase the risk of relapse in children with midline low-grade gliomas, and it is safe to use growth hormone in this population.
Article
Oncology
Eric Moreddu, Nicolas Andre, Romain Appay
Summary: We report two cases of pediatric mammary-analog secretory carcinoma (MASC) in which the diagnosis was challenging, but achieved by identifying the ETV6::NTRK3 fusion transcript. Both patients, a male operated on at age 8 and a female operated on at 12, are in remission 2 years after surgery. Considering the successful results of TRK inhibitor treatments in adult MASC and pediatric tumors expressing an ETV6::NTRK3 fusion, they should probably be recommended as the first-line treatment in cases with potential serious sequelae or metastatic disease that require surgery.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Medicine, General & Internal
Camille Winnicki, Pierre Leblond, Franck Bourdeaut, Anne Pagnier, Gilles Paluenzela, Pascal Chastagner, Gwenaelle Duhil-De Benaze, Victoria Min, Helene Sudour-Bonnange, Catherine Piette, Natacha Entz-Werle, Sylvie Chabaud, Nicolas Andre
Summary: This study retrospectively analyzed pediatric patients with relapsed high-risk brain tumors treated with the METMAT or METMAT-like regimen. It found that this treatment approach can lead to sustained control of the tumors, with the best outcomes observed at first relapse.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Pierre Leblond, Emmanuelle Tresch-Bruneel, Alicia Probst, Nadege Neant, Caroline Solas, Arthur Sterin, Thomas Boulanger, Isabelle Aerts, Cecile Faure-Conter, Anne-Isabelle Bertozzi, Pascal Chastagner, Natacha Entz-Werle, Emilie De Carli, Marie-Cecile Le Deley, Gauthier Bouche, Nicolas Andre
Summary: This study tested the repurposing of two non-anticancer drugs to provide less toxic therapeutic options for children with gliomas. The recommended phase II dose of fluvastatin in combination with celecoxib for children with gliomas is 6mg/kg/day, with a fixed daily dose of celecoxib depending on weight. This combination may be explored as a maintenance treatment in low-grade glioma patients to delay tumor recurrence.
Article
Oncology
Pierluigi Calo, Nicolas Pianton, Alexandre Basle, Alexandre Vasiljevic, Marc Barritault, Pierre Aurelien Beuriat, Cecile Faure-Conter, Pierre Leblond
Summary: Currently, there is no clear consensus on the best treatment for children with optic pathway gliomas (OPG). Different chemotherapy regimens have been proposed, but none have proven superiority in terms of progression-free survival (PFS). Recent publications have suggested that the combination of bevacizumab and irinotecan may be effective, although irinotecan has shown digestive side effects. This retrospective study evaluated the efficacy of bevacizumab used as a single agent in children with OPG, and found promising results in terms of tumor response rate and disease control.
Article
Oncology
Benjamin Serouart, Abel Cordoba, Carlos Martinez-Gomez, Emilie Bogart, Marie Cecile Le Deley, Eric Leblanc, Delphine Hudry, Alexandre Escande, Florence Le Tinier, Camille Pasquesoone, Sophie Taieb, Houssein El Hajj, Fabrice Narducci
Summary: This study evaluated the overall survival and recurrence-free survival of early-stage cervical cancer patients treated with minimally invasive surgery over a period of 20 years. The results showed that minimally invasive surgery can still be considered for tumors <= 2 cm, but more aggressive treatment might be needed for tumors > 3 cm.
Article
Oncology
Clemence Fournier, Clemence Leguillette, Eric Leblanc, Marie-Cecile Le Deley, Aurelien Carnot, David Pasquier, Alexandre Escande, Sophie Taieb, Luc Ceugnart, Loic Lebellec
Summary: This study aimed to develop a radiomics score to predict the malignant nature of residual masses in patients with NSGCTs after chemotherapy, in order to avoid surgical overtreatment. The researchers used post-chemotherapy contrast-enhanced CT scans to delineate the residual masses and obtained tumor textures using LifeX software. They constructed a radiomics score based on eight texture features and evaluated its performance in predicting malignancy. The results suggest that the radiomics score can help predict the malignant character of residual post-chemotherapy masses in NSGCTs before surgery, thus limiting overtreatment.
Article
Immunology
Caroline Donze, Victoria Min, Laetitia Ninove, Xavier de Lamballerie, Gabriel Revon Riviere, Arnauld Verschuur, Paul Saultier, Nicolas Andre
Summary: This study evaluated the adverse effects and immunological response associated with BNT162B2 vaccination in children and young adults with cancer. The results showed that most patients had an increase in antibody levels and the vaccine was effective in neutralizing the SARS-CoV-2 virus. In addition, COVID-19 infections after vaccination were mild in all cases.
Article
Oncology
Birgit Geoerger, Lynley Marshall, Karsten Nysom, Guy Makin, Eric Bouffet, Anne-Sophie Defachelles, Loredana Amoroso, Isabelle Aerts, Pierre Leblond, Paulette Barahona, Kim Van-Vlerken, Eric Fu, Flavio Solca, Robert M. Lorence, David S. Ziegler
Summary: This study assessed the safety, pharmacokinetics, and preliminary antitumor activity of afatinib in pediatric patients with cancer. Results showed that afatinib had limited efficacy in pediatric tumors, but it may be effective in patients with specific mutations.
EUROPEAN JOURNAL OF CANCER
(2023)
Letter
Biochemistry & Molecular Biology
Birgit Geoerger, Xavier Paoletti, Francisco Bautista, Susanne A. Gatz, Lynley V. Marshall, Nicolas Andre, Pablo Berlanga, Stephane Ducassou, Claudia Pasqualini, Michela Casanova, C. Michel Zwaan, Karsten Nysom, Jonathan Rubino, Delphine Vuillier-Le Goff, Baptiste Archambaud, Samuel Abbou, Gudrun Schleiermacher, Christelle Dufour, Patricia Blanc, Natalie Hoog-Labouret, Agnes Buzyn, Gilles Vassal
Article
Oncology
Manon Lefebvre, Mathilde Duchatelet, Houssein El Hajj, Antoine De Courreges, Jennifer Wallet, Charlotte Bellier, Florence Le Tinier, Marie Cecile Le Deley, Carlos Martinez Gomez, Eric Leblanc, Fabrice Narducci, Delphine Hudry
Summary: This single-center study aimed to retrospectively evaluate the survival outcomes of patients with FIGO stage I clear cell and serous uterine carcinoma according to the type of adjuvant treatment received. Patients treated with adjuvant radiotherapy showed improved 5-year overall survival (OS) and a trend towards enhanced 5-year progression-free survival (PFS). However, additional chemotherapy in cases of serous carcinoma with poor histological prognostic factors should be cautiously considered due to similar OS and PFS but increased toxicity.