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5. Definitions of adverse events associated with extracorporeal membrane oxygenation in children: results of an international Delphi process from the ECMO-CENTRAL ARC

Author

Alexander, Peta M A, Di Nardo, Matteo, Combes, Alain, Vogel, Adam M, Antonini, Marta Velia, Barrett, Nicholas, Benedetti, Giulia M, Bettencourt, Amanda, Brodie, Daniel, Gómez-Gutiérrez, René, Gorga, Stephen M, Hodgson, Carol, Kapoor, Poonam Malhotra, Le, Jennifer, MacLaren, Graeme, O’Neil, Erika R, Ostermann, Marlies, Paden, Matthew L, Patel, Neil, Rojas-Peña, Alvaro, Said, Ahmed S, Sperotto, Francesca, Willems, Ariane, Vercaemst, Leen, Yoganathan, Ajit P, Lorts, Angela, del Nido, Pedro J, Barbaro, Ryan P, Abecasis, Francisco, Al Foudri, Huda, Anders, Marc M., Angus, Derek C., Annich, Gail M., Arachchillage, Deepa J., Akcan-Arikan, Ayse, Armstrong, Aimee K., Balcells, Joan, Barrett, Meredith, Bartlett, Robert H., Belda-Hofheinz, Sylvia, Bembea, Melania M., Best, Derek J., Bonadonna, Desiree, Boonstra, Philip S., Brogan, Thomas V, Brown, Katherine L, Butragueño-Laiseca, Laura, Butt, Warwick W., Camporota, Luigi, Cardenas, Barbara, Cascarano, Maria T., Caspi, Joseph, Chen, Eric, Chiletti, Roberto, Colombo, Giovanna G., Conte, Marisa L., Crowe, Liz, Cvetkovic, Mirjana, Dalton, Heidi J., Daverio, Marco, Davidson, Mark G., Davis, Carl, DiGeronimo, Robert J., Egbunine, Ariel, Ellis, W. Cory, Fan, Eddy, Foster, Claire C, Fraser, John F., Friedman, Matthew L., Furlong-Dillard, Jamie, Fynn-Thompson, Francis, Garcia, Alejandro V., Geppert, Jeffery, Gillette, Nicole, Grazioli, Lorenzo, Greene, Christina L, Guerguerian, Anne-Marie, Guilliams, Kristin P., Haji Fortis, Jumana Y., Hao, Jianming, Heinsar, Silver, Hejduk, Mark W., Himebauch, Adam S., Horvat, Christopher M., Hoskote, Aparna, Hou, Xiaotong, Hyslop, Robert W., Ibrahim, Nicole, Ito, Takuya, Karagiannidis, Christian, Karam, Oliver, Kaushik, Shubhi, Kilbaugh, Todd J., Kim-Campbell, Nahmah, Kirsch, Roxanne E, Kormos, Robert L., Kornberger, Angela, Krucoff, Mitchell W., Lakshminrusimha, Satyan, LaRovere, Kerri L, Leger, Pierre-Louis, Levy, Philip T., Lorusso, Roberto, Lyster, Haifa, Malone, Matthew P., McMullan, D. Michael, Mečířová, Soña, Mehran, Roxana, Merz, Scott I., Mochizuki, Shuichi, Moler, Frank W., Molla, Kalkidan, Monagle, Paul, Morgan, Gareth J., Morgan, Catherine, Morice, Marie-Claude, Muszynski, Jennifer A., Najaf, Tasnim A., Nellis, Marianne E., Newburger, Jane W., O'Rourke, P. Pearl, Ostadal, Petr, Ozment, Caroline P., Pagani, Francis D., Peek, Giles J., Polito, Angelo, Priest, John R., Raman, Lakshmi, Rintoul, Natalie E., Roy, Nathalie, Rubin, Juli, Rumford, Martha, Rycus, Peter, Ryerson, Lindsay M., Sakamoto, Wakako, Segura-Matute, Susana, Shekar, Kiran, Spinella, Philip C., Spitzer, Ernest, Starr, Joanne P., Stead, Christine, Steffen, Katherine, Steiner, Marie E., Tan, Lucy, Tasker, Robert C., Taylor, J. Michael, Thiagarajan, Ravi R., Tonna, Joseph E., Ubertini, Gina M., van Leeuwen, Grace, Vang, Eric, Ventetuolo, Corey E., Venugopal, Prem S., Weinberg, Allison, Westrope, Claire, Wu, Changfu, Wylie, Gillian, Zeymer, Uwe, Zivick, Elizabeth E., and Zochios, Vasileios

Abstract

Extracorporeal membrane oxygenation (ECMO) is a high-risk and low-volume life support with increasing clinical study. However, heterogenous outcome definitions impede data assimilation into evidence to guide practice. The Academic Research Consortium (ARC), an international collaborative forum committed to facilitating the creation of stakeholder-driven consensus nomenclature and outcomes for clinical trials of medical devices, supported the ECMO Core Elements Needed for Trials Regulation And quality of Life (ECMO-CENTRAL) ARC. The ECMO-CENTRAL ARC was assembled to develop definitions of paediatric ECMO adverse events for use in clinical trials and regulatory device evaluation. An initial candidate list of ECMO adverse events derived from the mechanical circulatory support ARC was supplemented with a review of ECMO-relevant adverse event definitions collated from literature published between Jan 1, 1988, and Feb 20, 2023. Distinct teams of international topic experts drafted separate adverse event definitions that were harmonised to existing literature when appropriate. Draft definitions were revised for paediatric ECMO relevance with input from patients, families, and an international expert panel of trialists, clinicians, statisticians, biomedical engineers, device developers, and regulatory agencies. ECMO-CENTRAL ARC was revised and disseminated across research societies and professional organisations. Up to three rounds of internet-based anonymous surveys were planned as a modified Delphi process. The expert panel defined 13 adverse event definitions: neurological, bleeding, device malfunction, acute kidney injury, haemolysis, infection, vascular access-associated injury, non-CNS thrombosis, hepatic dysfunction, right heart failure, left ventricular overload, lactic acidaemia, and hypoxaemia. Definitional structure varied. Among 165 expert panel members, 114 were eligible to vote and 111 voted. Consensus was achieved for all proposed definitions. Agreement ranged from 82% to 95%. ECMO-CENTRAL ARC paired rigorous development with methodical stakeholder involvement and dissemination to define paediatric ECMO adverse events. These definitions will facilitate new research and the assimilation of data across clinical trials and ECMO device evaluation in children.

Published
2024
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6. Molecular characterization of DICER1-mutated pituitary blastoma

Author

Nadaf, Javad, de Kock, Leanne, Chong, Anne-Sophie, Korbonits, Márta, Thorner, Paul, Benlimame, Naciba, Fu, Lili, Peet, Andrew, Warner, Justin, Ploner, Oswald, Shuangshoti, Shanop, Albrecht, Steffen, Hamel, Nancy, Priest, John R., Rivera, Barbara, Ragoussis, Jiannis, and Foulkes, William D.

Published
2021
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8. Germ-line and somatic DICER1 mutations in pineoblastoma

Author

de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S, Gottardo, Nicholas G, Kees, Ursula R, Rednam, Surya P, van Hest, Liselotte P, Jongmans, Marjolijn C, Jhangiani, Shalini, Lupski, James R, Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R, Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G, and Foulkes, William D

Subjects
Biomedical and Clinical Sciences, Neurosciences, Genetic Testing, Human Genome, Genetics, Aetiology, 2.1 Biological and endogenous factors, Cancer, Adolescent, Brain Neoplasms, Child, Child, Preschool, DEAD-box RNA Helicases, DNA Mutational Analysis, Family Health, Female, Germ-Line Mutation, Humans, Infant, Male, Pineal Gland, Pinealoma, Ribonuclease III, Young Adult, DICER1, miRNA processing, Paediatric brain tumours, Pineal gland, Childhood cancer, Mutation, Pineoblastoma, OMIM #601200, Clinical Sciences, Neurology & Neurosurgery
Abstract

Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.

Published
2014

9. Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

Author

de Kock, Leanne, Sabbaghian, Nelly, Plourde, François, Srivastava, Archana, Weber, Evan, Bouron-Dal Soglio, Dorothée, Hamel, Nancy, Choi, Joon Hyuk, Park, Sung-Hye, Deal, Cheri L, Kelsey, Megan M, Dishop, Megan K, Esbenshade, Adam, Kuttesch, John F, Jacques, Thomas S, Perry, Arie, Leichter, Heinz, Maeder, Philippe, Brundler, Marie-Anne, Warner, Justin, Neal, James, Zacharin, Margaret, Korbonits, Márta, Cole, Trevor, Traunecker, Heidi, McLean, Thomas W, Rotondo, Fabio, Lepage, Pierre, Albrecht, Steffen, Horvath, Eva, Kovacs, Kalman, Priest, John R, and Foulkes, William D

Subjects
Biomedical and Clinical Sciences, Neurosciences, Genetic Testing, Cancer, Clinical Research, Rare Diseases, Pediatric, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Child, Preschool, DEAD-box RNA Helicases, DNA Mutational Analysis, Fatal Outcome, Germ-Line Mutation, Humans, Immunohistochemistry, Infant, Magnetic Resonance Imaging, Mutation, Neoplasms, Complex and Mixed, Pedigree, Pituitary Neoplasms, Radiography, Thoracic, Ribonuclease III, Tomography, X-Ray Computed, Treatment Outcome, Clinical Sciences, Neurology & Neurosurgery
Abstract

Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III catalytic domain have been identified in several DICER1-associated tumor types. Pituitary blastoma (PitB) was identified as a distinct entity in 2008, and is a very rare, potentially lethal early childhood tumor of the pituitary gland. Since the discovery by our team of an inherited mutation in DICER1 in a child with PitB in 2011, we have identified 12 additional PitB cases. We aimed to determine the contribution of germ-line and somatic DICER1 mutations to PitB. We hypothesized that PitB is a pathognomonic feature of a germ-line DICER1 mutation and that each PitB will harbor a second somatic mutation in DICER1. Lymphocyte or saliva DNA samples ascertained from ten infants with PitB were screened and nine were found to harbor a heterozygous germ-line DICER1 mutation. We identified additional DICER1 mutations in nine of ten tested PitB tumor samples, eight of which were confirmed to be somatic in origin. Seven of these mutations occurred within the RNase IIIb catalytic domain, a domain essential to the generation of 5p miRNAs from the 5' arm of miRNA-precursors. Germ-line DICER1 mutations are a major contributor to PitB. Second somatic DICER1 "hits" occurring within the RNase IIIb domain also appear to be critical in PitB pathogenesis.

Published
2014

11. Pleuropulmonary Blastoma

Author

Priest, John R., Schneider, Dominik T., editor, Brecht, Ines B., editor, Olson, Thomas A., editor, and Ferrari, Andrea, editor

Published
2012
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16. DICER1 Mutations in Familial Pleuropulmonary Blastoma

Author

Hill, D. Ashley, Ivanovich, Jennifer, Priest, John R., Gurnett, Christina A., Dehner, Louis P., Desruisseau, David, Jarzembowski, Jason A., Wikenheiser-Brokamp, Kathryn A., Suarez, Brian K., Whelan, Alison J., Williams, Gretchen, Bracamontes, Dawn, Messinger, Yoav, and Goodfellow, Paul J.

Published
2009
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19. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Author

de Kock, Leanne, Wang, Yu Chang, Revil, Timothée, Badescu, Dunarel, Rivera, Barbara, Sabbaghian, Nelly, Wu, Mona, Weber, Evan, Sandoval, Claudio, Hopman, Saskia M J, Merks, Johannes H M, van Hagen, Johanna M, Bouts, Antonia H M, Plager, David A, Ramasubramanian, Aparna, Forsmark, Linus, Doyle, Kristine L, Toler, Tonja, Callahan, Janine, Engelenberg, Charlotte, Bouron-Dal Soglio, Dorothée, Priest, John R, Ragoussis, Jiannis, and Foulkes, William D

Published
2016
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30. Contributors

Author

Ari, Arzu, Baker, Christopher, Brown, Mark Allen, Bultmann, Charlene R., Chisholm, Christian A., Cusano, Michael, DeBoer, Emily M., Elliott, Megan R., Fink, James B., Fleming, Mark A., II, Froh, Deborah K., Gonzalez, Leslie M., Grabski, David F., Hinds, Daniel M., Hook, Marcus, Hynes, Katrina M., Kapral, Nicole, Kaufman, David A., Kheir, John, Khodak, Igor, Koroulakis, Dionysios, Levin, Daniel, McGahren, Eugene, Moneme, Chioma, Mottram, Carl D., Moynihan, Katie M., Lee O’Brien, Michael, Priest, John R., Pryhuber, Gloria S., Rettig, Jordan S., Rieck, Rebecca E., Sinkin, Robert A., Stein, Mary Lyn, Walsh, Brian K., Watters, Karen, Yang, Youyang, Lee Yu, Pearl, and Zanelli, Santina A.

Published
2023
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31. Extending the phenotypes associated with DICER1 mutations

Author

Foulkes, William D., Bahubeshi, Amin, Hamel, Nancy, Pasini, Barbara, Asioli, Sofia, Baynam, Gareth, Choong, Catherine S., Charles, Adrian, Frieder, Richard P., Dishop, Megan K., Graf, Nicole, Ekim, Mesiha, Bouron-Dal Soglio, Dorothée, Arseneau, Jocelyne, Young, Robert H., Sabbaghian, Nelly, Srivastava, Archana, Tischkowitz, Marc D., and Priest, John R.

Published
2011
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33. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

Author

Slade, Ingrid, Bacchelli, Chiara, Davies, Helen, Murray, Anne, Abbaszadeh, Fatemeh, Hanks, Sandra, Barfoot, Rita, Burke, Amos, Chisholm, Julia, Hewitt, Martin, Jenkinson, Helen, King, Derek, Morland, Bruce, Pizer, Barry, Prescott, Katrina, Saggar, Anand, Side, Lucy, Traunecker, Heidi, Vaidya, Sucheta, Ward, Paul, Futreal, P Andrew, Vujanic, Gordan, Nicholson, Andrew G, Sebire, Neil, Turnbull, Clare, Priest, John R, Pritchard-Jones, Kathryn, Houlston, Richard, Stiller, Charles, Stratton, Michael R, Douglas, Jenny, and Rahman, Nazneen

Published
2011
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35. DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors

Author

Frio, Thomas Rio, Bahubeshi, Amin, Kanellopoulou, Chryssa, Hamel, Nancy, Niedziela, Marek, Sabbaghian, Nelly, Pouchet, Carly, Gilbert, Lucy, O’Brien, Paul K., Serfas, Kim, Broderick, Peter, Houlston, Richard S., Lesueur, Fabienne, Bonora, Elena, Muljo, Stefan, Schimke, R. Neil, Bouron-Dal Soglio, Dorothée, Arseneau, Jocelyne, Schultz, Kris Ann, Priest, John R., Nguyen, Van-Hung, Harach, H. Rubén, Livingston, David M., Foulkes, William D., and Tischkowitz, Marc

Published
2011
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36. Clinical Outcomes and Complications of Pituitary Blastoma

Author

Liu, Anthony P Y, primary, Kelsey, Megan M, additional, Sabbaghian, Nelly, additional, Park, Sung-Hye, additional, Deal, Cheri L, additional, Esbenshade, Adam J, additional, Ploner, Oswald, additional, Peet, Andrew, additional, Traunecker, Heidi, additional, Ahmed, Yomna H E, additional, Zacharin, Margaret, additional, Tiulpakov, Anatoly, additional, Lapshina, Anastasia M, additional, Walter, Andrew W, additional, Dutta, Pinaki, additional, Rai, Ashutosh, additional, Korbonits, Márta, additional, de Kock, Leanne, additional, Nichols, Kim E, additional, Foulkes, William D, additional, and Priest, John R, additional

Published
2020
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46. Mesenchymal Hamartoma of the Liver and DICER1 Syndrome

Author

Apellaniz-Ruiz, Maria, primary, Segni, Maria, additional, Kettwig, Matthias, additional, Glüer, Sylvia, additional, Pelletier, Dylan, additional, Nguyen, Van-Hung, additional, Wagener, Rabea, additional, López, Cristina, additional, Muchantef, Karl, additional, Bouron-Dal Soglio, Dorothée, additional, Sabbaghian, Nelly, additional, Wu, Mona K., additional, Zannella, Stefano, additional, Fabian, Marc R., additional, Siebert, Reiner, additional, Menke, Jan, additional, Priest, John R., additional, and Foulkes, William D., additional

Published
2019
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50. Pleuropulmonary blastoma: A marker for familial disease

Author

Priest, John R., Watterson, Jan, Strong, Louise, Huff, Vicki, Woods, William G., Byrd, Rebecca L., Friend, Stephen H., Newsham, Irene, Amylon, Michael D., Pappo, Alberto, Mahoney, Donald H., Langston, Claire, Heyn, Ruth, Kohut, Gloria, Freyer, David R., Bostrom, Bruce, Richardson, Mary S., Barredo, Julio, and Dehner, Louis P.

Published
1996

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