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Methylation Profiling Identifies Stability of Isocitrate Dehydrogenase Mutation Over Time
- Mathew R. Voisin, Chloe Gui, Vikas Patil, Andrew F. Gao, Gelareh Zadeh
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- Journal:
- Canadian Journal of Neurological Sciences , First View
- Published online by Cambridge University Press:
- 12 July 2023, pp. 1-7
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Objective:
Isocitrate dehydrogenase (IDH) mutation status is a key diagnostic and prognostic feature of gliomas. It is thought to occur early in glioma tumorigenesis and remain stable over time. However, there are reports documenting a loss of IDH mutation status in a subset of patients with glioma recurrence. Here, we identified patients with a documented loss of IDH mutation status longitudinally and performed multi-platform analysis in order to determine if IDH mutations are stable throughout glioma evolution.
Methods:We retrospectively identified patients from our institution from 2009 to 2018 with immunohistochemistry (IHC)-recorded IDH mutation status changes longitudinally. Archived formalin-fixed paraffin-embedded and frozen tissue samples from these patients were collected from our institution’s tumour bank. Samples were analysed using methylation profiling, copy number variation, Sanger sequencing, droplet digital PCR (ddPCR) and IHC.
Results:We reviewed 1491 archived glioma samples including 78 patients with multiple IDH mutant tumour samples collected longitudinally. In all instances of documented loss of IDH mutation status, multi-platform profiling identified a mixture of low tumour cell content and non-neoplastic tissue including perilesional, reactive or inflammatory cells.
Conclusions:All patients with a documented loss of IDH mutation status longitudinally were resolved through multi-platform analysis. These findings support the hypothesis that IDH mutations occur early in gliomagenesis and in the absence of copy number changes at the IDH loci and are stable throughout tumour treatment and evolution. Our study highlights the importance of accurate surgical sampling and the role of DNA methylome profiling in diagnostically uncertain cases for integrated pathological and molecular diagnosis.
An ultra-wide bandwidth (704 to 4 032 MHz) receiver for the Parkes radio telescope
- George Hobbs, Richard N. Manchester, Alex Dunning, Andrew Jameson, Paul Roberts, Daniel George, J. A. Green, John Tuthill, Lawrence Toomey, Jane F. Kaczmarek, Stacy Mader, Malte Marquarding, Azeem Ahmed, Shaun W. Amy, Matthew Bailes, Ron Beresford, N. D. R. Bhat, Douglas C.-J. Bock, Michael Bourne, Mark Bowen, Michael Brothers, Andrew D. Cameron, Ettore Carretti, Nick Carter, Santy Castillo, Raji Chekkala, Wan Cheng, Yoon Chung, Daniel A. Craig, Shi Dai, Joanne Dawson, James Dempsey, Paul Doherty, Bin Dong, Philip Edwards, Tuohutinuer Ergesh, Xuyang Gao, JinLin Han, Douglas Hayman, Balthasar Indermuehle, Kanapathippillai Jeganathan, Simon Johnston, Henry Kanoniuk, Michael Kesteven, Michael Kramer, Mark Leach, Vince Mcintyre, Vanessa Moss, Stefan Osłowski, Chris Phillips, Nathan Pope, Brett Preisig, Daniel Price, Ken Reeves, Les Reilly, John Reynolds, Tim Robishaw, Peter Roush, Tim Ruckley, Elaine Sadler, John Sarkissian, Sean Severs, Ryan Shannon, Ken Smart, Malcolm Smith, Stephanie Smith, Charlotte Sobey, Lister Staveley-Smith, Anastasios Tzioumis, Willem van Straten, Nina Wang, Linqing Wen, Matthew Whiting
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- Journal:
- Publications of the Astronomical Society of Australia / Volume 37 / 2020
- Published online by Cambridge University Press:
- 08 April 2020, e012
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We describe an ultra-wide-bandwidth, low-frequency receiver recently installed on the Parkes radio telescope. The receiver system provides continuous frequency coverage from 704 to 4032 MHz. For much of the band ( ${\sim}60\%$ ), the system temperature is approximately 22 K and the receiver system remains in a linear regime even in the presence of strong mobile phone transmissions. We discuss the scientific and technical aspects of the new receiver, including its astronomical objectives, as well as the feed, receiver, digitiser, and signal processor design. We describe the pipeline routines that form the archive-ready data products and how those data files can be accessed from the archives. The system performance is quantified, including the system noise and linearity, beam shape, antenna efficiency, polarisation calibration, and timing stability.
Contributors
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- By Luis G. Acevedo, Schahram Akbarian, Ioanna Andreou, Krishnarao Appasani, Raghu K. Appasani, Julia Arand, David M. Ashley, Alexander R. Ball, Yehudit Bergman, Marina Bibikova, Angela Bithell, Francesca Bonafè, Eric E. Bouhassira, Victoria L. Boyd, Noel J. Buckley, Lars Olov Bygren, Claudio M. Caldarera, Gemma Carvill, James W. F. Catto, Sarah Derks, Ewa Dudziec, Jeffrey D. Falk, Jian-Bing Fan, Joseph M. Fernandez, David E. Fisher, Emanuela Fiumana, Tamara B. Franklin, Fei Gao, Arkadiusz Gertych, Emanuele Giordano, David Goldman, Markus Grammel, Carlo Guarnieri, Kevin L. Gunderson, Victoria (Fatemeh) G. Haghighi, Xu Han, Yong-Mahn Han, Howard C. Hang, Aditi Hazra, Laura B.K. Herzing, Norbert Hochstein, Robin Holliday, Dorothee Honsel, Mary A. Jelinek, Guanyu Ji, Yan Jiang, Atsushi Kaneda, Richard A. Katz, Hyemin Kim, Richard Kroon, Tapas K. Kundu, Benoit Labonté, Daeyoup Lee, Konstantin Lepikhov, Andrea Linnemann-Florl, Dirk Loeffert, Dylan Maixner, Isabelle M. Mansuy, Andreas Missel, D. V. Mohankrishna, Joana Carvalho Moreira de Mello, Paolo G. Morselli, Rituparna Mukhopadhyay, Claudio Muscari, Takashi Nagano, Frank Narz, Shuji Ogino, Carlo M. Oranges, Shari Orlanski, Alice Pasini, Ralf Peist, Lygia V. Pereira, Andrey Poleshko, Claire Rougeulle, Thea Rütjes, Ana Sanz, Benjamin G. Schroeder, Gerald Schock, Kornel Schuebel, B. Ruthrotha Selvi, Hogyu Seo, Natalia Shalginskikh, Andrew Sharp, Jun S. Song, Lennart Suckau, Azim Surani, Jian Tajbakhsh, Gustavo Turecki, Céline Vallot, Manon van Engeland, Jörn Walter, Nicholas C. Wong, Mark Wossidlo, Honglong Wu, Yurong Xin, Zhixiang Yan, Yu-Ying Yang, Mingzhi Ye, Kyoko Yokomori, Sephorah Zaman, Weihua Zeng, Gerald Zon
- Edited by Krishnarao Appasani
- Foreword by Azim Surani, University of Cambridge
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- Book:
- Epigenomics
- Published online:
- 05 August 2012
- Print publication:
- 02 August 2012, pp x-xxiv
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