Article
Radiology, Nuclear Medicine & Medical Imaging
Michael Zhang, Samuel W. Wong, Jason N. Wright, Matthias W. Wagner, Sebastian Toescu, Michelle Han, Lydia T. Tam, Quan Zhou, Saman S. Ahmadian, Katie Shpanskaya, Seth Lummus, Hollie Lai, Azam Eghbal, Alireza Radmanesh, Jordan Nemelka, Stephen Harward, Michael Malinzak, Suzanne Laughlin, Sebastien Perreault, Kristina R. M. Braun, Robert M. Lober, Yoon Jae Cho, Birgit Ertl-Wagner, Chang Y. Ho, Kshitij Mankad, Hannes Vogel, Samuel H. Cheshier, Thomas S. Jacques, Kristian Aquilina, Paul G. Fisher, Michael Taylor, Tina Poussaint, Nicholas A. Vitanza, Gerald A. Grant, Stefan Pfister, Eric Thompson, Alok Jaju, Vijay Ramaswamy, Kristen W. Yeom
Summary: This study developed machine learning strategies to identify the four clinically significant molecular subgroups of pediatric medulloblastoma using MRI, providing important information for risk stratification and therapeutic decision making.
Article
Medicine, General & Internal
Hee Won Cho, Hyunwoo Lee, Hee Young Ju, Keon Hee Yoo, Hong Hoe Koo, Do Hoon Lim, Ki Woong Sung, Hyung Jin Shin, Yeon-Lim Suh, Ji Won Lee
Summary: This study investigated the impact of molecular subgroups on risk stratification of childhood MB. The results revealed discrepancies between the new risk stratification based on integrated diagnosis and clinical risk stratification. Risk stratification based on precise molecular subgrouping is necessary for tailored treatment of MB patients.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Article
Clinical Neurology
Hallie Coltin, Lakshmikirupa Sundaresan, Kyle S. Smith, Patryk Skowron, Luca Massimi, Charles G. Eberhart, Karisa C. Schreck, Nalin Gupta, William A. Weiss, Daniela Tirapelli, Carlos Carlotti, Kay K. W. Li, Marina Ryzhova, Andrey Golanov, Olga Zheludkova, Oksana Absalyamova, Konstantin Okonechnikov, Damian Stichel, Andreas von Deimling, Caterina Giannini, Scott Raskin, Erwin G. Van Meir, Jennifer A. Chan, Daniel Fults, Lola B. Chambless, Seung-Ki Kim, Alexandre Vasiljevic, Cecile Faure-Conter, Rajeev Vibhakar, Shin Jung, Sarah Leary, Jaume Mora, Roger E. McLendon, Ian F. Pollack, Peter Hauser, Wieslawa A. Grajkowska, Joshua B. Rubin, Marie-Lise C. van Veelen, Pim J. French, Johan M. Kros, Linda M. Liau, Stefan M. Pfister, Marcel Kool, Noriyuki Kijima, Michael D. Taylor, Roger J. Packer, Paul A. Northcott, Andrey Korshunov, Vijay Ramaswamy
Summary: Medulloblastoma in adults can be classified into WNT, SHH, Group 3, and Group 4 subgroups, with SHH tumors being diagnosed at an older age. The 5-year progression-free survival varies among different subtypes, but clinical variables do not show a significant association with subtype-specific PFS.
ACTA NEUROPATHOLOGICA
(2021)
Review
Medicine, General & Internal
Marwa Ismail, Stephen Craig, Raheel Ahmed, Peter de Blank, Pallavi Tiwari
Summary: Recent advances in artificial intelligence have greatly impacted the field of medical imaging, improving computational algorithms for data analysis. In the context of pediatric medulloblastoma tumors, radiomics and radiogenomics have been utilized for survival prognostication, molecular classification, and tumor type classification. The integration of radiomic and genomic data has allowed for comprehensive computational models to better understand disease etiology.
Article
Surgery
Raju Kandimalla, Tadanobu Shimura, Saurav Mallik, Fuminori Sonohara, Susan Tsai, Douglas B. Evans, Song Cheol Kim, Hideo Baba, Yasuhiro Kodera, Daniel Von Hoff, Xi Chen, Ajay Goel
Summary: By performing mRNA-miRNA regulatory network analyses, a panel of miRNAs has been identified for molecular subtype identification and risk stratification of high-risk patients with pancreatic ductal adenocarcinoma (PDAC). The miRNA panel showed significant association with poor survival in PDAC molecular subtypes and can be used as a noninvasive assay for identifying high-risk patients and potential disease monitoring. The predictive accuracy of the miRNA panel can be further improved by incorporating clinicopathological factors.
Article
Oncology
Anthony P. Y. Liu, Kyle S. Smith, Rahul Kumar, Leena Paul, Laure Bihannic, Tong Lin, Kendra K. Maass, Kristian W. Pajtler, Murali Chintagumpala, Jack M. Su, Eric Bouffet, Michael J. Fisher, Sridharan Gururangan, Richard Cohn, Tim Hassall, Jordan R. Hansford, Paul Klimo, Frederick A. Boop, Clinton F. Stewart, Julie H. Harreld, Thomas E. Merchant, Ruth G. Tatevossian, Geoffrey Neale, Matthew Lear, Jeffery M. Klco, Brent A. Orr, David W. Ellison, Richard J. Gilbertson, Arzu Onar-Thomas, Amar Gajjar, Giles W. Robinson, Paul A. Northcott
Summary: The study demonstrates the clinical utility of CSF-derived cell-free DNA (cfDNA) as a biomarker of measurable residual disease (MRD) in children with medulloblastoma. Detection of MRD, particularly in patients with persistent MRD, is associated with a higher risk of disease progression. Early detection of MRD using liquid biopsies may aid in monitoring disease progression and treatment efficacy in medulloblastoma patients.
Article
Oncology
Alberto Delaidelli, Christopher Dunham, Mariarita Santi, Gian Luca Negri, Joanna Triscott, Olga Zheludkova, Andrey Golanov, Marina Ryzhova, Konstantin Okonechnikov, Daniel Schrimpf, Damian Stichel, David W. Ellison, Andreas von Deimling, Marcel Kool, Stefan M. Pfister, Vijay Ramaswamy, Andrey Korshunov, Michael D. Taylor, Poul H. Sorensen
Summary: This study identifies an IHC marker, TPD52, as a clinically tractable method for improved risk stratification in group 3/4 medulloblastoma. Integration of TPD52 IHC with clinical features outperforms existing risk stratification schemes and allows for the reclassification of patients into more appropriate risk categories.
CLINICAL CANCER RESEARCH
(2022)
Article
Clinical Neurology
Jack Goddard, Jemma Castle, Emily Southworth, Anya Fletcher, Stephen Crosier, Idoia Martin-Guerrero, Miguel Garcia-Ariza, Aurora Navajas, Julien Masliah-Planchon, Franck Bourdeaut, Christelle Dufour, Olivier Ayrault, Tobias Goschzik, Torsten Pietsch, Martin Sill, Stefan M. Pfister, Stefan Rutkowski, Stacey Richardson, Rebecca M. Hill, Daniel Williamson, Simon Bailey, Edward C. Schwalbe, Steven C. Clifford, Debbie Hicks
Summary: This study comprehensively characterizes the molecular landscape of pediatric MBGrp4 and determines its utility for clinical management. A novel risk-stratification scheme based on WCA and subgroups is proposed, which improves outcome prediction and redefines risk-status for the majority of MBGrp4 patients.
ACTA NEUROPATHOLOGICA
(2023)
Article
Gastroenterology & Hepatology
Richard Phillips, Wladyslaw Januszewicz, Nastazja D. Pilonis, Maria O'Donovan, Tarek Sawas, David A. Katzka, Rebecca C. Fitzgerald, Massimiliano di Pietro
Summary: Patients with BE-IND have a high risk of neoplastic progression and need close monitoring. BE length is associated with neoplastic progression.
GASTROINTESTINAL ENDOSCOPY
(2021)
Article
Oncology
Xun Gong, Yuchen Liu, Chenglong Zheng, Peikai Tian, Minjie Peng, Yihang Pan, Xiaowu Li
Summary: In this study, a new 4-miRNA risk stratification model was established to predict prognosis in pancreatic adenocarcinoma (PAAD) patients. The model successfully stratified patients into low-risk and high-risk groups, and showed significant correlation with 1-, 2-, and 3-year survival rates.
FRONTIERS IN ONCOLOGY
(2022)
Article
Medicine, General & Internal
Dario de Biase, Thais Maloberti, Angelo Gianluca Corradini, Francesca Rosini, Marco Grillini, Martina Ruscelli, Sara Coluccelli, Annalisa Altimari, Elisa Gruppioni, Viviana Sanza, Daniela Turchetti, Andrea Galuppi, Martina Ferioli, Susanna Giunchi, Giulia Dondi, Marco Tesei, Gloria Ravegnini, Francesca Abbati, Daniela Rubino, Claudio Zamagni, Pierandrea De Iaco, Donatella Santini, Claudio Ceccarelli, Anna Myriam Perrone, Giovanni Tallini, Antonio De Leo
Summary: This study compares the new ESGO/ESTRO/ESP risk stratification system with the previous 2016 recommendations for endometrial carcinoma patients. The results show that the new system provides more accurate identification of low-risk and high-risk patients, potentially allowing a more specific selection of patients for post-operative adjuvant therapy.
FRONTIERS IN MEDICINE
(2023)
Article
Oncology
Seungyeon Joe, Miseon Lee, Jun Kang, Joori Kim, Sook-Hee Hong, Sung Jong Lee, Keun Ho Lee, Ahwon Lee
Summary: The study utilized POLE ddPCR and L1CAM IHC as alternative methods for molecular classification in early-stage endometrial cancer, enhancing risk stratification and providing valuable information for treatment decisions and patient outcomes.
Article
Genetics & Heredity
Anisha Mhatre, Jinsha Koroth, Meghana Manjunath, S. Sandeep Kumar, Ramesh Gawari, Bibha Choudhary
Summary: Ovarian cancer is the third most common and lethal cancer in Indian women. This study aimed to analyze the genetic variants, gene expression, splice events, and immune profiles of ovarian cancer samples in different histotypes. The results revealed population-specific molecular signatures and immune cell fractions.
FRONTIERS IN GENETICS
(2023)
Article
Clinical Neurology
D. Hicks, G. Rafiee, E. C. Schwalbe, C. Howell, J. C. Lindsey, R. M. Hill, A. J. Smith, P. Adidharma, C. Steel, S. Richardson, L. Pease, M. Danilenko, S. Crosier, A. Joshi, S. B. Wharton, T. S. Jacques, B. Pizer, A. Michalski, D. Williamson, S. Bailey, S. C. Clifford
Summary: Through characterizing the molecular landscape of iMB, we identified subgroups and proposed personalized, risk-adapted therapies for better outcomes.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Oncology
Pitt Niehusmann, Einar Stensvold, Henning Leske, Torsten Pietsch, Tobias Goschzik, Gerrit H. Gielen, Bernt Due-Tonnessen, Radek Fric, Yngvar Nilssen, Petter Brandal
Summary: This study reevaluated pediatric patients with embryonal brain tumors in Norway, identifying a higher proportion of standard-risk non-WNT/non-SHH medulloblastomas with molecular high-risk profiles compared to other studies. The molecular-based risk stratification enabled superior identification of medulloblastomas with dismal prognosis in this cohort.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Oncology
Jonas Ecker, Florian Selt, Dominik Sturm, Martin Sill, Andrey Korshunov, Steffen Hirsch, David Capper, Nicola Dikow, Christian Sutter, Carina Mueller, Romain Sigaud, Angelika Eggert, Thorsten Simon, Tim Niehues, Andreas von Deimling, Kristian W. Pajtler, Cornelis M. van Tilburg, David T. W. Jones, Felix Sahm, Stefan M. Pfister, Olaf Witt, Till Milde
Summary: The PTT 2.0 program aims to improve diagnostic accuracy and detect actionable alterations in relapsed pediatric oncology patients, even with limited tumor material. The study utilized molecular analyses such as DNA methylation array, targeted gene panel sequencing, RNA sequencing, and immunohistochemistry to provide relevant and robust information for diagnosis and treatment decisions.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Oncology
Marie Morfouace, Peter Horak, Simon Kreutzfeldt, Aleksandra Stevovic, Teresa de Rojas, Evgeniya Denisova, Barbara Hutter, Francisco Bautista, Anne -Sophie Defachelles, Jeff White, Julio Oliveira, Bernd Kasper, Matthias Preusser, Vassilis Golfinopoulos, Stefan Pfister, Winette Van der Graaf, Eva Wardelmann, Patrick Shenjere, Stefan Froehling, Martin G. McCabe
EUROPEAN JOURNAL OF CANCER
(2023)
Letter
Oncology
Christian P. Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jaeger, Sebastian M. Waszak, Anika Grosshennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M. Pfister, Holger Prokisch, Tim Ripperger, David Malkin
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Oncology
Pallavi Khurud, Ankita Gupta, Rahul Krishnatry, Gitanjali Panigrahi, Reena Devi Phurailatpam, Santosh Menon, Mahendra Pal, Ganesh Bakshi, Gagan Prakash, Vedang Murthy
Summary: Recent studies have shown that adjuvant radiation therapy can improve outcomes in penile cancer. This study aimed to determine the appropriate target volumes for irradiation and report the patterns of failure in patients with pN3 penile cancer.
PRACTICAL RADIATION ONCOLOGY
(2023)
Letter
Oncology
Christian P. Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jaeger, Sebastian M. Waszak, Anika Grosshennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M. Pfister, Holger Prokisch, Tim Ripperger, David Malkin
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Biochemistry & Molecular Biology
Dominik Sturm, David Capper, Felipe Andreiuolo, Marco Gessi, Christian Koelsche, Annekathrin Reinhardt, Philipp Sievers, Annika K. Wefers, Azadeh Ebrahimi, Abigail K. Suwala, Gerrit H. Gielen, Martin Sill, Daniel Schrimpf, Damian Stichel, Volker Hovestadt, Bjarne Daenekas, Agata Rode, Stefan Hamelmann, Christopher Previti, Natalie Jaeger, Ivo Buchhalter, Mirjam Blattner-Johnson, Barbara C. Jones, Monika Warmuth-Metz, Brigitte Bison, Kerstin Grund, Christian Sutter, Steffen Hirsch, Nicola Dikow, Martin Hasselblatt, Ulrich Schueller, Nicolas U. Gerber, Christine L. White, Molly K. Buntine, Kathryn Kinross, Elizabeth M. Algar, Jordan R. Hansford, Nicholas G. Gottardo, Pablo Hernaiz Driever, Astrid Gnekow, Olaf Witt, Hermann L. Mueller, Gabriele Calaminus, Gudrun Fleischhack, Uwe Kordes, Martin Mynarek, Stefan Rutkowski, Michael C. Fruehwald, Christof M. Kramm, Andreas von Deimling, Torsten Pietsch, Felix Sahm, Stefan M. Pfister, David. T. W. Jones
Summary: This study prospectively integrated DNA methylation profiling and targeted gene panel sequencing to evaluate their utility in routine neuropathology for newly diagnosed pediatric patients with CNS tumors. The integration of multi-omics improved diagnostic accuracy by refining DNA methylation classification, detecting relevant genetic alterations, and identifying cancer predisposition syndromes. Discrepancies between neuropathological classification and DNA methylation classification were particularly relevant for high-grade gliomas, and patients with lower-grade molecular profiles had improved survival.
Article
Oncology
Emily C. Hardin, Simone Schmid, Alexander Sommerkamp, Carina Bodden, Anna-Elisa Heipertz, Philipp Sievers, Andrea Wittmann, Till Milde, Stefan M. Pfister, Andreas von Deimling, Svea Horn, Nina A. Herz, Michele Simon, Ashwyn A. Perera, Amedeo Azizi, Ofelia Cruz, Sarah Curry, An Van Damme, Miklos Garami, Darren Hargrave, Antonis Kattamis, Barbara Faganel Kotnik, Paeivi Laehteenmaeki, Katrin Scheinemann, Antoinette Y. N. Schouten-van Meeteren, Astrid Sehested, Elisabetta Viscardi, Ole Mikal Wormdal, Michal Zapotocky, David S. Ziegler, Arend Koch, Pablo Hernaiz Driever, Olaf Witt, David Capper, Felix Sahm, David T. W. Jones, Cornelis M. van Tilburg
Summary: The addition of RNA-Seq to current diagnostic methods improves diagnostic accuracy, making precision oncology treatments more accessible for pediatric low-grade glioma (pLGG) patients. The study suggests including RNA-Seq as part of routine diagnostics, especially when no common pLGG alteration is identified.
Article
Oncology
Rahul Krishnatry, Priyamvada Maitre, Anuj Kumar, Tejshri Telkhade, Ganesh Bakshi, Gagan Prakash, Mahendra Pal, Amit Joshi, Santosh Menon, Vedang Murthy
Summary: This study aimed to evaluate urinary symptoms and urine cytology as screening tools for cystoscopic detection of local recurrence after bladder-preserving trimodality treatment (TMT). The results showed that urinary symptoms and urine cytology were effective in predicting local recurrence in cystoscopic biopsy. The combination of cystoscopy and urine cytology was particularly sensitive in detecting muscle-invasive recurrence, while alternate cystoscopy may be more optimal for detecting any local recurrence.
Article
Neurosciences
Matthew Pun, Drew Pratt, Patricia R. Nano, Piyush K. Joshi, Li Jiang, Bernhard Englinger, Arvind Rao, Marcin Cieslik, Arul M. Chinnaiyan, Kenneth Aldape, Stefan Pfister, Mariella G. Filbin, Aparna Bhaduri, Sriram Venneti
Summary: Globally decreased H3K27me3 is a characteristic feature of H3K27-altered DMGs and PFAs. H3K27-altered DMGs are characterized by H3K27M mutations, while most PFAs overexpress EZHIP, which shares similarity with mutant H3K27M. H3K27M and EZHIP both inhibit the function of PRC2, responsible for H3K27me3 deposition.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Oncology
Arnav Tongaonkar, Vijai Simha, Nandini Menon, Vanita Noronha, Ganesh Bakshi, Vedang Murthy, Santosh Menon, Nilesh Sable, Rahul Krishnatry, Palak Popat, Mahendra Pal, Gagan Prakash, Archi Agarwal, Bhagyashri Shivaji Jadhav, Kumar Prabhash, Amit Joshi
Summary: This study retrospectively reviewed the case records of patients with testicular cancer from 2014 to 2019 and found that testicular tumors mainly occurred in undescended testes, with a later diagnosis and complex treatment. The 5-year overall survival and event-free survival rates in patients with undescended testes were not lower compared to those with descended testes. Early orchiopexy may help in the earlier detection of testicular tumors.
ECANCERMEDICALSCIENCE
(2023)
Article
Oncology
Konstantin Okonechnikov, Piyush Joshi, Mari Sepp, Kevin Leiss, Ioannis Sarropoulos, Florent Murat, Martin Sill, Pengbo Beck, Kenneth Chun-Ho Chan, Andrey Korshunov, Felix Sah, Maximilian Y. Deng, Dominik Sturm, John DeSisto, Andrew M. Donson, Nicholas K. Foreman, Adam L. Green, Giles Robinson, Brent A. Orr, Qingsong Gao, Emily Darrow, Jennifer L. Hadley, Paul A. Northcott, Johannes Gojo, Daisuke Kawauchi, Volker Hovestadt, Mariella G. Filbin, Andreas von Deimling, Marc Zuckermann, Kristian W. Pajtler, Marcel Kool, David T. W. Jones, Natalie Jaeger, Lena M. Kutscher, Henrik Kaessmann, Stefan M. Pfister
Summary: This study successfully identified the cellular origins of the three most common pediatric brain tumors and identified potential therapeutic targets based on the tumor-specific genes expressed in these cellular origins.
Article
Oncology
Revathy Krishnamurthy, Rahul Krishnatry, Devankshi Rane, Purva Pawar, Debanjan Chakraborty, Utpal Gaikwad, Suman Ghosh, Aasma Siddiqui, Debanjali Datta, Akanksha Anup, Sayan Das, Shivakumar Gudi, Reena Engineer
Summary: The aim of this study was to translate and validate the EORTC PRT-20 module in Hindi, Marathi, and Bangla languages. The questionnaire was translated and back-translated following EORTC guidelines. The translated questionnaires were then tested on patients, and modifications were made based on their feedback. The translated versions were approved by the EORTC and found to be reliable.
SOUTH ASIAN JOURNAL OF CANCER
(2023)
Meeting Abstract
Oncology
Anant Ramaswamy, Vikas S. Ostwal, Reena Engineer, Manali Parulekar, Sarika Mandavkar, Nanda Aier, Prabhat Ghanshyam Bhargava, Sujay Srinivas, Shraddha Patkar, Rahul Krishnatry, Shivakumar Gudi, Akhil Kapoor, Durgatosh Pandey, Swapnil Patel, Abhishek Shinghal, Alok Goel, Tapas Kumar Dora, Debashish Chaudhary, Suman Kumar Ankathi, Mahesh Goel
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Neurosciences
Rahul Krishnatry, Shakthivel Mani, Jifmi J. Manjali, Pallavi P. Rane, Abhishek Chatterjee, Jayant S. Goda, Amit Janu, Arpita Sahu, Tejpal Gupta, Rakesh Jalali
Summary: This retrospective study aimed to understand the treatment patterns and their impact on diffuse intrinsic pontine glioma (DIPG) patients. The study found that radiotherapy has a significant positive association with survival and steroid usage in DIPG patients, and re-irradiation further improves outcomes in select cohorts. While most patients completed their first radiotherapy treatment, some experienced worsening symptoms and persistent need for steroids.
Article
Biochemical Research Methods
Elias Ulrich, Stefan M. Pfister, Natalie Jaeger
Summary: As non-coding driver mutations become more important in cancer research, a comprehensive and user-friendly software solution for regulatory variant analysis and data visualization is highly relevant. A tool called Revana has been introduced, which can aggregate and visually represent regulatory variants from cancer genomes in a gene-centric manner. It requires whole-genome and RNA sequencing data of a tumor sample cohort and creates interactive HTML reports summarizing the most important regulatory events.