Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study.

Autor: David H Abramson, Diana L Mandelker, A Rose Brannon, Ira J Dunkel, Ryma Benayed, Michael F Berger, Maria E Arcila, Marc Ladanyi, Danielle Novetsky Friedman, Gowtham Jayakumaran, Monica S Diosdado, Melissa A Robbins, Dianna Haggag-Lindgren, Neerav Shukla, Michael F Walsh, Prachi Kothari, Dana W Y Tsui, Jasmine H Francis

Publikováno v: PLoS ONE, Vol 18, Iss 2, p e0271505 (2023)

Cell free DNA (cfDNA) and circulating tumor cell free DNA (ctDNA) from blood (plasma) are increasingly being used in oncology for diagnosis, monitoring response, identifying cancer causing mutations and detecting recurrences. Circulating tumor RB1 DN

Externí odkaz: https://doaj.org/article/84031ebaf17544d78246236a3ffbf765

Cell‐free DNA profiling in retinoblastoma patients with advanced intraocular disease: An MSKCC experience

Autor: Prachi Kothari, Francesco Marass, Julie L. Yang, Caitlin M. Stewart, Dennis Stephens, Juber Patel, Maysun Hasan, Xiaohong Jing, Fanli Meng, Jeanette Enriquez, Kety Huberman, Agnes Viale, Jasmine H. Francis, Michael F. Berger, Neerav Shukla, David H. Abramson, Ira J. Dunkel, Dana W.Y. Tsui

Publikováno v: Cancer Medicine, Vol 9, Iss 17, Pp 6093-6101 (2020)

Abstract Purpose The enucleation rate for retinoblastoma has dropped from over 95% to under 10% in the past 10 years as a result of improvements in therapy. This reduces access to tumor tissue for molecular profiling, especially in unilateral retinob

Externí odkaz: https://doaj.org/article/0a8e616f72034103b531f13b624076ea

Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma

Autor: David H. Abramson, MD, Diana Mandelker, MD, PhD, Jasmine H. Francis, MD, Ira J. Dunkel, MD, A. Rose Brannon, PhD, Ryma Benayed, PhD, Michael F. Berger, PhD, Maria E. Arcila, MD, Marc Ladanyi, MD, Danielle Novetsky Friedman, MD, Gowtham Jayakumaran, MS, Monica S. Diosdado, MA, Melissa A. Robbins, MPH, Dianna Haggag-Lindgren, BS, Neerav Shukla, MD, Michael Walsh, MD, Prachi Kothari, DO, Dana W.Y. Tsui, PhD

Publikováno v: Ophthalmology Science, Vol 1, Iss 1, Pp 100015- (2021)

Purpose: Analysis of circulating tumor DNA (ctDNA) in the plasma of patients with retinoblastoma and simulating lesions. Design: Retrospective cross-sectional study of the association of plasma ctDNA from retinoblastoma and simulating lesions with di

Externí odkaz: https://doaj.org/article/9c664857dfd245da8feebe8a194e22df

Alveolar soft part sarcoma of the bladder with ASPSCR1-TFE3 gene fusion as a secondary malignancy

Autor: Daniel S. Rhee, Ira J. Dunkel, Neerav N. Shukla, Michael F. Walsh, Stephen W. Gilheeney, Anita P. Price, Cristina R. Antonescu, Todd E. Heaton

Publikováno v: Journal of Pediatric Surgery Case Reports, Vol 27, Iss C, Pp 19-22 (2017)

Alveolar soft part sarcoma (ASPS) represents

Externí odkaz: https://doaj.org/article/41239a28c3044a7687395e550bbe322f

Supplementary Table S1 from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Autor: Chris Jones, David T.W. Jones, Thomas S. Jacques, David W. Ellison, Sergey Popov, David Capper, Maria Vinci, Andrea Carai, Angela Mastronuzzi, Suzanne J. Baker, Felix Sahm, Stefan M. Pfister, Christof M. Kramm, Andreas von Deimling, Lynley V. Marshall, Fernando Carceller, Darren R. Hargrave, Kristian Aquilina, Matthias A. Karajannis, David S. Ziegler, Mark J. Cowley, Maria Tsoli, Stephen P. Lowis, Timothy E.G. Hassall, Andrew S. Moore, Simon Bailey, Francesca Diomedi-Camassei, Giovanna Stefania Colafati, Evelina Miele, Clare Mitchell, Tabitha Bloom, Olaf Witt, Marc Zuckermann, Dominik Sturm, Barbara C. Worst, Lotte Hiddingh, Andrey Korshunov, Pablo Hernáiz Driever, Felipe Andreiuolo, Torsten Pietsch, Simone Hettmer, Kornelius Kerl, Winand N.M. Dinjens, Martin Ebinger, Martin U. Schuhmann, Jens Schittenhelm, Michael Karremann, Michael Capra, Jane B. Cryan, Michael Farrell, Petter Brandal, Thale Kristin Olsen, David A. Solomon, Monika Ashok Davare, Lissa Baird, Matthew D. Wood, Barbara Faganel Kotnik, Mara Popović, Shani Caspi, Ho-Keung Ng, Roger Packer, Irene Slavc, Christine Haberler, Matthias Preusser, Tobey J. Macdonald, Paula Z. Proszek, Debbie Hughes, Marc K. Rosenblum, Stephen W. Gilheeney, Ira J. Dunkel, Martin Sill, Simon P. Robinson, Jessica K.R. Boult, Rachael Natrajan, Claire Cairns, Bassel Zebian, Christopher Chandler, Safa Al-Sarraj, Lawrence J. Doey, Andrew J. Martin, Leslie Bridges, Matija Snuderl, David E. Kram, Uwe Kordes, Ulrich Schüller, Jeffrey Knipstein, Stephen Crosier, Mellissa Maybury, Catherine Rowe, Kathreena M. Kurian, Michael Hubank, Ji Wen, Wilda Orisme, James D. Dalton, Kelly Haupfear, Mark Kristiansen, Jane Chalker, Aimee Avery, Amy R. Fairchild, Alex Virasami, Louise Howell, Anna Burford, Valeria Molinari, Diana M. Carvalho, Sara Temelso, Elisa Izquierdo, Iris Stoler, Tejus A. Bale, Scott Newman, Ruth G. Tatevossian, Jessica C. Pickles, Britta Ismer, Alan Mackay, Matthew Clarke

Supplementary Table S1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04d97c92485c6eb10e27f5e8a1018f6
https://doi.org/10.1158/2159-8290.22535600