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1. The role of cancer predisposition syndrome in children and adolescents with very rare tumours

Author

Orbach, Daniel, Brecht, Ines B., Corradini, Nadege, Bouchoucha, Yassine, Roganovic, Jelena, Bourdeaut, Franck, Reguerre, Yves, Kuiper, Roland P., Bressac de Paillerets, Brigitte, Ferrari, Andrea, Virgone, Calogero, Godzinski, Jan, Bisogno, Gianni, Guerrini-Rousseau, Lea, Farinha, Nuno Jorge, Bergamaschi, Luca, Bien, Ewa, Kuhlen, Michaela, Schneider, Dominik T., and Ben Ami, Tal

Published
2023
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2. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Author

Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A.J., Evans, D. Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A., Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoît, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J., Kratz, Christian P., Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Wimmer, Katharina, Burn, John, Jackson, Michael S., and Santibanez-Koref, Mauro

Published
2023
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3. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Author

Waszak, Sebastian M, Northcott, Paul A, Buchhalter, Ivo, Robinson, Giles W, Sutter, Christian, Groebner, Susanne, Grund, Kerstin B, Brugières, Laurence, Jones, David TW, Pajtler, Kristian W, Morrissy, A Sorana, Kool, Marcel, Sturm, Dominik, Chavez, Lukas, Ernst, Aurelie, Brabetz, Sebastian, Hain, Michael, Zichner, Thomas, Segura-Wang, Maia, Weischenfeldt, Joachim, Rausch, Tobias, Mardin, Balca R, Zhou, Xin, Baciu, Cristina, Lawerenz, Christian, Chan, Jennifer A, Varlet, Pascale, Guerrini-Rousseau, Lea, Fults, Daniel W, Grajkowska, Wiesława, Hauser, Peter, Jabado, Nada, Ra, Young-Shin, Zitterbart, Karel, Shringarpure, Suyash S, De La Vega, Francisco M, Bustamante, Carlos D, Ng, Ho-Keung, Perry, Arie, MacDonald, Tobey J, Hernáiz Driever, Pablo, Bendel, Anne E, Bowers, Daniel C, McCowage, Geoffrey, Chintagumpala, Murali M, Cohn, Richard, Hassall, Timothy, Fleischhack, Gudrun, Eggen, Tone, Wesenberg, Finn, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina V, Röösli, Martin, Kuehni, Claudia E, Grotzer, Michael, Kjaerheim, Kristina, Monoranu, Camelia M, Archer, Tenley C, Duke, Elizabeth, Pomeroy, Scott L, Shelagh, Redmond, Frank, Stephan, Sumerauer, David, Scheurlen, Wolfram, Ryzhova, Marina V, Milde, Till, Kratz, Christian P, Samuel, David, Zhang, Jinghui, Solomon, David A, Marra, Marco, Eils, Roland, Bartram, Claus R, von Hoff, Katja, Rutkowski, Stefan, Ramaswamy, Vijay, Gilbertson, Richard J, Korshunov, Andrey, Taylor, Michael D, Lichter, Peter, Malkin, David, Gajjar, Amar, Korbel, Jan O, and Pfister, Stefan M

Subjects
Humans, Medulloblastoma, Cerebellar Neoplasms, Genetic Predisposition to Disease, Risk Factors, Retrospective Studies, Prospective Studies, Reproducibility of Results, Predictive Value of Tests, Gene Expression Profiling, Pedigree, DNA Mutational Analysis, DNA Methylation, Heredity, Phenotype, Germ-Line Mutation, Models, Genetic, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Testing, Transcriptome, Biomarkers, Tumor, Progression-Free Survival, Exome Sequencing, Brain Cancer, Genetics, Cancer, Human Genome, Pediatric, Pediatric Cancer, Rare Diseases, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundMedulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines.MethodsIn this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma.FindingsWe included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 40-69) and 5-year overall survival was 65% (95% CI 52-81); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes.InterpretationGenetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics.FundingGerman Cancer Aid; German Federal Ministry of Education and Research; German Childhood Cancer Foundation (Deutsche Kinderkrebsstiftung); European Research Council; National Institutes of Health; Canadian Institutes for Health Research; German Cancer Research Center; St Jude Comprehensive Cancer Center; American Lebanese Syrian Associated Charities; Swiss National Science Foundation; European Molecular Biology Organization; Cancer Research UK; Hertie Foundation; Alexander and Margaret Stewart Trust; V Foundation for Cancer Research; Sontag Foundation; Musicians Against Childhood Cancer; BC Cancer Foundation; Swedish Council for Health, Working Life and Welfare; Swedish Research Council; Swedish Cancer Society; the Swedish Radiation Protection Authority; Danish Strategic Research Council; Swiss Federal Office of Public Health; Swiss Research Foundation on Mobile Communication; Masaryk University; Ministry of Health of the Czech Republic; Research Council of Norway; Genome Canada; Genome BC; Terry Fox Research Institute; Ontario Institute for Cancer Research; Pediatric Oncology Group of Ontario; The Family of Kathleen Lorette and the Clark H Smith Brain Tumour Centre; Montreal Children's Hospital Foundation; The Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre, Chief of Research Fund, Cancer Genetics Program, Garron Family Cancer Centre, MDT's Garron Family Endowment; BC Childhood Cancer Parents Association; Cure Search Foundation; Pediatric Brain Tumor Foundation; Brainchild; and the Government of Ontario.

Published
2018

7. Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome

Author

Kolodziejczak, Anna S, primary, Guerrini-Rousseau, Lea, additional, Planchon, Julien Masliah, additional, Ecker, Jonas, additional, Selt, Florian, additional, Mynarek, Martin, additional, Obrecht, Denise, additional, Sill, Martin, additional, Autry, Robert J, additional, Stutheit-Zhao, Eric, additional, Hirsch, Steffen, additional, Amouyal, Elsa, additional, Dufour, Christelle, additional, Ayrault, Olivier, additional, Torrejon, Jacob, additional, Waszak, Sebastian M, additional, Ramaswamy, Vijay, additional, Pentikainen, Virve, additional, Demir, Haci Ahmet, additional, Clifford, Steven C, additional, Schwalbe, Ed C, additional, Massimi, Luca, additional, Snuderl, Matija, additional, Galbraith, Kristyn, additional, Karajannis, Matthias A, additional, Hill, Katherine, additional, Li, Bryan K, additional, Walsh, Mike, additional, White, Christine L, additional, Redmond, Shelagh, additional, Loizos, Loizou, additional, Jakob, Marcus, additional, Kordes, Uwe R, additional, Schmid, Irene, additional, Hauer, Julia, additional, Blattmann, Claudia, additional, Filippidou, Maria, additional, Piccolo, Gianluca, additional, Scheurlen, Wolfram, additional, Farrag, Ahmed, additional, Grund, Kerstin, additional, Sutter, Christian, additional, Pietsch, Torsten, additional, Frank, Stephan, additional, Schewe, Denis M, additional, Malkin, David, additional, Ben-Arush, Myriam, additional, Sehested, Astrid, additional, Wong, Tai-Tong, additional, Wu, Kuo-Sheng, additional, Liu, Yen-Lin, additional, Carceller, Fernando, additional, Mueller, Sabine, additional, Stoller, Schuyler, additional, Taylor, Michael D, additional, Tabori, Uri, additional, Bouffet, Eric, additional, Kool, Marcel, additional, Sahm, Felix, additional, von Deimling, Andreas, additional, Korshunov, Andrey, additional, von Hoff, Katja, additional, Kratz, Christian P, additional, Sturm, Dominik, additional, Jones, David T W, additional, Rutkowski, Stefan, additional, van Tilburg, Cornelis M, additional, Witt, Olaf, additional, Bougeard, Gaëlle, additional, Pajtler, Kristian W, additional, Pfister, Stefan M, additional, Bourdeaut, Franck, additional, and Milde, Till, additional

Published
2023
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8. Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma

Author

Benusiglio, Patrick R., primary, Elder, Fikret, additional, Touat, Mehdi, additional, Perrier, Alexandre, additional, Sanson, Marc, additional, Colas, Chrystelle, additional, Guerrini-Rousseau, Lea, additional, Tran, Duy Thanh, additional, Trabelsi, Nesrine, additional, Carpentier, Catherine, additional, Marie, Yannick, additional, Adam, Clovis, additional, Bernier, Michèle, additional, Cazals-Hatem, Dominique, additional, Mokhtari, Karima, additional, Tran, Suzanne, additional, Mathon, Bertrand, additional, Capelle, Laurent, additional, Dhooge, Marion, additional, Idbaih, Ahmed, additional, Alentorn, Agusti, additional, Houillier, Caroline, additional, Dehais, Caroline, additional, Hoang-Xuan, Khe, additional, Cuzzubbo, Stefania, additional, Carpentier, Antoine, additional, Duval, Alex, additional, Coulet, Florence, additional, and Bielle, Franck, additional

Published
2023
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12. HGG-41. Glioma oncogenesis in the constitutional mismatch repair deficiency (CMMRD) syndrome

Author

Guerrini-Rousseau, Lea, primary, Merlevede, Jane, additional, Denizeau, Philippe, additional, Andrejuolo, Felipe, additional, Varlet, Pascale, additional, Puget, Stephanie, additional, Beccaria, Kevin, additional, Blauwblomme, Thomas, additional, Cabaret, Odile, additional, Hamzaoui, Nadim, additional, Bourdeaut, Franck, additional, Faure-Conter, Cecile, additional, Muleris, Martine, additional, Colas, Chrystelle, additional, de Beaumais, Tiphaine Adam, additional, Castel, David, additional, Rouleau, Etienne, additional, Brugieres, Laurence, additional, Grill, Jacques, additional, and Debily, Marie-Anne, additional

Published
2022
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13. MEDB-14. Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome

Author

Kolodziejczak, Anna, primary, Guerrini-Rousseau, Lea, additional, Planchon, Julien Masliah, additional, Ecker, Jonas, additional, Selt, Florian, additional, Mynarek, Martin, additional, Obrecht, Denise, additional, Sill, Martin, additional, Hirsch, Steffen, additional, Sturm, Dominik, additional, Waszak, Sebastian M, additional, Ramaswamy, Vijay, additional, Pentikainen, Virve, additional, Demir, Haci Ahmet, additional, Clifford, Steven C, additional, Schwalbe, Ed, additional, Massimi, Luca, additional, Snuderl, Matija, additional, Galbraith, Kristyn, additional, Karajannis, Matthias A, additional, Hill, Katie, additional, Li, Bryan, additional, White, Christine L, additional, Redmond, Shelagh, additional, Loizos, Loizou, additional, Jakob, Marcus, additional, Kordes, Uwe, additional, Schmid, Irene, additional, Hauer, Julia, additional, Blattmann, Claudia, additional, Filippidou, Maria, additional, Scheurlen, Wolfram, additional, Kontny, Udo, additional, Grund, Kerstin, additional, Sutter, Christian, additional, Pietsch, Torsten, additional, van Tilburg, Cornelis M, additional, Frank, Stephan, additional, Schewe, Denis M, additional, Malkin, David, additional, Taylor, Michael D, additional, Tabori, Uri, additional, Bouffet, Eric, additional, Kool, Marcel, additional, Sahm, Felix, additional, von Deimling, Andreas, additional, Korshunov, Andrey, additional, Von Hoff, Katja, additional, Kratz, Christian, additional, Jones, David T W, additional, Rutkowski, Stefan, additional, Witt, Olaf, additional, Bougeard, Gaelle, additional, Pajtler, Kristian W, additional, Pfister, Stefan M, additional, Bourdeaut, Franck, additional, and Milde, Till, additional

Published
2022
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14. HGG-40. NF1 mosaicism in a CMMRD-patient with a glioblastoma

Author

Guerrini-Rousseau, Lea, primary, Cabaret, Odile, additional, Muleris, Martine, additional, Vidaud, Dominique, additional, Cotteret, Sophie, additional, Rouleau, Etienne, additional, de Beaumais, Tiphaine Adam, additional, Varlet, Pascale, additional, Morscher, Raphael, additional, Abbou, Samuel, additional, Dufour, Christelle, additional, Brugieres, Laurence, additional, and Grill, Jacques, additional

Published
2022
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15. Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome

Author

Kolodziejczak, Anna, Guerrini-Rousseau, Lea, Planchon, Julien Masliah, Ecker, Jonas, Selt, Florian, Mynarek, Martin, Obrecht, Denise, Sill, Martin, Hirsch, Steffen, Sturm, Dominik, Waszak, Sebastian M., Ramaswamy, Vijay, Pentikainen, Virve, Demir, Haci Ahmet, Clifford, Steven C., Schwalbe, Ed, Massimi, Luca, Snuderl, Matija, Galbraith, Kristyn, Karajannis, Matthias A., Hill, Katie, Li, Bryan, White, Christine L., Redmond, Shelagh, Loizos, Loizou, Jakob, Marcus, Kordes, Uwe, Schmid, Irene, Hauer, Julia, Blattmann, Claudia, Filippidou, Maria, Scheurlen, Wolfram, Kontny, Hans Udo, Grund, Kerstin, Sutter, Christian, Pietsch, Torsten, van Tilburg, Cornelis M., Frank, Stephan, Schewe, Denis M., Malkin, David, Taylor, Michael D., Tabori, Uri, Bouffet, Eric, Kool, Marcel, Sahm, Felix, Von Deimling, Andreas, Korshunov, Andrey, Von Hoff, Katja, Kratz, Christian, Jones, David T. W., Rutkowski, Stefan, Witt, Olaf, Bougeard, Gaelle, Pajtler, Kristian W., Pfister, Stefan M., Bourdeaut, Franck, and Milde, Till

Abstract

20. International Symposium on Pediatric Neuro-Oncology, ISPNO 2022, Hamburg, Germany, 12 Jun 2022 - 15 Jun 2022; Neuro-Oncology : official journal of the World Federation of Neuro-Oncology 24(Supplement_1), MEDB-14 (2022). doi:10.1093/neuonc/noac079.389 special issue: "Abstracts from the 20th International Symposium on Pediatric Neuro-Oncology (ISPNO 2022)", Published by Oxford Univ. Press, Oxford

Published
2022

18. Predisposition to cancer in children and adolescents

Author

Genetica Klinische Genetica, Child Health, Cancer, Kratz, Christian P, Jongmans, Marjolijn C, Cavé, Hélène, Wimmer, Katharina, Behjati, Sam, Guerrini-Rousseau, Lea, Milde, Till, Pajtler, Kristian W, Golmard, Lisa, Gauthier-Villars, Marion, Jewell, Rosalyn, Duncan, Catriona, Maher, Eamonn R, Brugieres, Laurence, Pritchard-Jones, Kathy, Bourdeaut, Franck, Genetica Klinische Genetica, Child Health, Cancer, Kratz, Christian P, Jongmans, Marjolijn C, Cavé, Hélène, Wimmer, Katharina, Behjati, Sam, Guerrini-Rousseau, Lea, Milde, Till, Pajtler, Kristian W, Golmard, Lisa, Gauthier-Villars, Marion, Jewell, Rosalyn, Duncan, Catriona, Maher, Eamonn R, Brugieres, Laurence, Pritchard-Jones, Kathy, and Bourdeaut, Franck

Published
2021

19. Predisposition to cancer in children and adolescents

Author

Kratz, Christian P, primary, Jongmans, Marjolijn C, additional, Cavé, Hélène, additional, Wimmer, Katharina, additional, Behjati, Sam, additional, Guerrini-Rousseau, Lea, additional, Milde, Till, additional, Pajtler, Kristian W, additional, Golmard, Lisa, additional, Gauthier-Villars, Marion, additional, Jewell, Rosalyn, additional, Duncan, Catriona, additional, Maher, Eamonn R, additional, Brugieres, Laurence, additional, Pritchard-Jones, Kathy, additional, and Bourdeaut, Franck, additional

Published
2021
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20. Germline Mutations Predispose to Pediatric Medulloblastoma

Author

Begemann, Matthias, Waszak, Sebastian M., Brugieres, Laurence, Varlet, Pascale, Pietsch, Torsten, Bowers, Daniel C., Chintagumpala, Murali, Sahm, Felix, Korbel, Jan O., Rutkowski, Stefan, Eggermann, Thomas, Gajjar, Amar, Robinson, Giles W., Northcott, Paul, Elbracht, Miriam, Pfister, Stefan M., Kontny, Udo, Kontny, Hans Udo, Jäger, Natalie, Sharma, Tanvi, Knopp, Cordula, Kraft, Florian, Moser, Olga, Mynarek, Martin, and Guerrini-Rousseau, Lea

Abstract

Journal of clinical oncology : JCO 38(1), 43-50 (2020). doi:10.1200/JCO.19.00577, Published by American Society of Clinical Oncology, Alexandria, Va.

Published
2020
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21. GCT-29. DOES TUMOUR MARKER DECLINE PREDICT OUTCOME IN INTRACRANIAL NON-GERMINOMATOUS GERM CELL TUMOURS (NGGCTs)?

Author

Conter, Cecile Faure, primary, Lardy-Cleaud, Audrey, additional, Murray, Matthew, additional, Nicholson, James, additional, Guerrini-Rousseau, Lea, additional, Palenzuela, Gilles, additional, Alapetite, Claire, additional, Garre, Maria Louise, additional, Kortmann, Rolf, additional, Saran, Frank, additional, Ajithkumar, Thankamma, additional, Pietsch, Torsten, additional, Vasiljevic, Alexandre, additional, Ricardi, Umberto, additional, Timmermann, Beate, additional, Muller, Jans Enno, additional, and Calaminus, Gabriele, additional

Published
2020
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23. Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

Author

Begemann, Matthias, primary, Waszak, Sebastian M., additional, Robinson, Giles W., additional, Jäger, Natalie, additional, Sharma, Tanvi, additional, Knopp, Cordula, additional, Kraft, Florian, additional, Moser, Olga, additional, Mynarek, Martin, additional, Guerrini-Rousseau, Lea, additional, Brugieres, Laurence, additional, Varlet, Pascale, additional, Pietsch, Torsten, additional, Bowers, Daniel C., additional, Chintagumpala, Murali, additional, Sahm, Felix, additional, Korbel, Jan O., additional, Rutkowski, Stefan, additional, Eggermann, Thomas, additional, Gajjar, Amar, additional, Northcott, Paul, additional, Elbracht, Miriam, additional, Pfister, Stefan M., additional, Kontny, Udo, additional, and Kurth, Ingo, additional

Published
2020
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24. End-of-life care in children and adolescents with cancer: perspectives from a French pediatric oncology care network

Author

Blais, Sophie, Cohen-Gogo, Sarah, Gouache, Elodie, Guerrini-Rousseau, Lea, Brethon, Benoit, Rahal, Ilhem, Petit, Arnaud, Raimondo, Graziella, Pellegrino, Beatrice, and Orbach, Daniel

Abstract

Background: In developed countries, cancer remains the leading cause of pediatric death from illness after the neonatal period.Objective: To describe the end-of-life care characteristics of children and adolescents with solid tumors (ST) or hematologic malignancies (HM) who died from tumor progression in the Île-de-France area.Methods: This is a regional, multicentric, retrospective review of medical files of all children and adolescents with cancer who died over a 1-year period. Extensive data from the last 3 months of life were collected.Results: A total of 99 eligible patients died at a median age of 9.8 years (range, 0.3–24 years). The most frequent terminal symptoms were pain (n = 86), fatigue (n = 84), dyspnea (n = 49), and anorexia (n = 41). Median number of medications per patient was 8 (range, 3–18). Patients required administration of opioids (n = 91), oxygen (n = 36), and/or sedation (n = 61). Decision for palliative care was present in all medical records and do-not-resuscitate orders in 90/99 cases. Symptom prevalence was comparable between children and adolescents with ST and HM. A wish regarding the place of death had been expressed for 64 patients and could be respected in 42 cases. Death occurred in hospital for 75 patients.Conclusions: This study represents a large and informative cohort illustrating current pediatric palliative care approaches in pediatric oncology. End-of-life remains an active period of care requiring coordination of multiple care teams.

Published
2022
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25. Low-dose ketamine adjuvant treatment for refractory pain in children, adolescents and young adults with cancer: a pilot study

Author

Courade, Magali, primary, Bertrand, Amandine, additional, Guerrini-Rousseau, Lea, additional, Pagnier, Anne, additional, Levy, Dominique, additional, Lervat, Cyril, additional, Cojean, Nadine, additional, Ribrault, Alice, additional, Dugue, Sophie, additional, Thouvenin, Sandrine, additional, Piguet, Christophe, additional, Schmitt, Claudine, additional, and Marec-Berard, Perrine, additional

Published
2019
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27. Spectrum and prevalence of genetic predisposition in medulloblastoma:a retrospective genetic study and prospective validation in a clinical trial cohort

Author

Waszak, Sebastian M., Northcott, Paul A., Buchhalter, Ivo, Robinson, Giles W., Sutter, Christian, Groebner, Susanne, Grund, Kerstin B., Brugières, Laurence, Jones, David T.W., Pajtler, Kristian W., Morrissy, A. Sorana, Kool, Marcel, Sturm, Dominik, Chavez, Lukas, Ernst, Aurelie, Brabetz, Sebastian, Hain, Michael, Zichner, Thomas, Segura-Wang, Maia, Weischenfeldt, Joachim, Rausch, Tobias, Mardin, Balca R., Zhou, Xin, Baciu, Cristina, Lawerenz, Christian, Chan, Jennifer A., Varlet, Pascale, Guerrini-Rousseau, Lea, Fults, Daniel W., Grajkowska, Wiesława, Hauser, Peter, Jabado, Nada, Ra, Young Shin, Zitterbart, Karel, Shringarpure, Suyash S., De La Vega, Francisco M., Bustamante, Carlos D., Ng, Ho Keung, Perry, Arie, MacDonald, Tobey J., Hernáiz Driever, Pablo, Bendel, Anne E., Bowers, Daniel C., McCowage, Geoffrey, Chintagumpala, Murali M., Cohn, Richard, Hassall, Timothy, Fleischhack, Gudrun, Eggen, Tone, Wesenberg, Finn, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina V., Röösli, Martin, Kuehni, Claudia E., Grotzer, Michael, Kjaerheim, Kristina, Monoranu, Camelia M., Archer, Tenley C., Duke, Elizabeth, Pomeroy, Scott L., Shelagh, Redmond, Frank, Stephan, Sumerauer, David, Scheurlen, Wolfram, Ryzhova, Marina V., Milde, Till, Kratz, Christian P., Samuel, David, Zhang, Jinghui, Solomon, David A., Marra, Marco, Eils, Roland, Bartram, Claus R., von Hoff, Katja, Rutkowski, Stefan, Ramaswamy, Vijay, Gilbertson, Richard J., Korshunov, Andrey, Taylor, Michael D., Lichter, Peter, Malkin, David, Gajjar, Amar, Korbel, Jan O., Pfister, Stefan M., Waszak, Sebastian M., Northcott, Paul A., Buchhalter, Ivo, Robinson, Giles W., Sutter, Christian, Groebner, Susanne, Grund, Kerstin B., Brugières, Laurence, Jones, David T.W., Pajtler, Kristian W., Morrissy, A. Sorana, Kool, Marcel, Sturm, Dominik, Chavez, Lukas, Ernst, Aurelie, Brabetz, Sebastian, Hain, Michael, Zichner, Thomas, Segura-Wang, Maia, Weischenfeldt, Joachim, Rausch, Tobias, Mardin, Balca R., Zhou, Xin, Baciu, Cristina, Lawerenz, Christian, Chan, Jennifer A., Varlet, Pascale, Guerrini-Rousseau, Lea, Fults, Daniel W., Grajkowska, Wiesława, Hauser, Peter, Jabado, Nada, Ra, Young Shin, Zitterbart, Karel, Shringarpure, Suyash S., De La Vega, Francisco M., Bustamante, Carlos D., Ng, Ho Keung, Perry, Arie, MacDonald, Tobey J., Hernáiz Driever, Pablo, Bendel, Anne E., Bowers, Daniel C., McCowage, Geoffrey, Chintagumpala, Murali M., Cohn, Richard, Hassall, Timothy, Fleischhack, Gudrun, Eggen, Tone, Wesenberg, Finn, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina V., Röösli, Martin, Kuehni, Claudia E., Grotzer, Michael, Kjaerheim, Kristina, Monoranu, Camelia M., Archer, Tenley C., Duke, Elizabeth, Pomeroy, Scott L., Shelagh, Redmond, Frank, Stephan, Sumerauer, David, Scheurlen, Wolfram, Ryzhova, Marina V., Milde, Till, Kratz, Christian P., Samuel, David, Zhang, Jinghui, Solomon, David A., Marra, Marco, Eils, Roland, Bartram, Claus R., von Hoff, Katja, Rutkowski, Stefan, Ramaswamy, Vijay, Gilbertson, Richard J., Korshunov, Andrey, Taylor, Michael D., Lichter, Peter, Malkin, David, Gajjar, Amar, Korbel, Jan O., and Pfister, Stefan M.

Abstract

Background: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. Methods: In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. Findings: We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In

Published
2018

28. HGG-42. GLIOMA ONCOGENESIS IN CONSTITUTIONNAL MISMATCH REPAIR DEFICIENCY (CMMRD) SYNDROME: A CLINICO-PATHOLOGICAL AND MOLECULAR STUDY IN 15 PATIENTS

Author

Merlevede, Jane, primary, Andreiuolo, Felipe, additional, Debily, Marie-Anne, additional, Guerrini-Rousseau, Lea, additional, Picot, Stephanie, additional, Barret, Emilie, additional, Lavoine, Noémie, additional, Castel, David, additional, Puget, Stephanie, additional, Brugieres, Laurence, additional, Varlet, Pascale, additional, and Grill, Jacques, additional

Published
2018
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29. Les auteurs

Author

Aulagner, Gilles, Cazin, Jean-Louis, Lemare, François, Limat, Samuel, Armoiry, Xavier, Astier, Alain, Barbier, Garance, Bardin, Christophe, Boiteux-Jurain, Marie, Boulin, Mathieu, Brunie, Vanida, Burtin, Christophe, Capelle, Aude, Chaigneau, Loïc, Chenailler, Catherine, Chinot, Olivier, Clairet, Anne-Laure, Correard, Florian, Daguindau, Étienne, Dahan, Muriel, Dansin, Éric, Debordeaux, Frédéric, Demoré, Béatrice, Desmaris, Romain, Dussart, Claude, Estève, Marie-Anne, Fagnoni, Philippe, Faucitano, Alexia, Faure, Pierre, Favé, Sophie, Fernandez, Christine, Gaillard, Claire, Goldwasser, François, Govindoorazoo, Axel, Gueneau, Pauline, Guerrini-Rousseau, Léa, Guyotat, Denis, Henaine, Anne-Marie, Honoré, Stéphane, Jary, Marine, Jeannin, Marie, Jonchere, Gabrielle, Kalbacher, Elsa, Kroemer, Marie, Kuzzay, Marie-Pierre, Levêque, Dominique, Madelaine, Isabelle, Mansi, Laura, Mimoun, Aguirre, Mongaret, Céline, Nerich, Virginie, Noirez, Véronique, Penel, Nicolas, Piketty, Anne-Catherine, Pistre, Pauline, Puisset, Florent, Rizzo-Padoin, Nathalie, Roy, Pétronille, Sautou, Valérie, Servent, Véronique, Slimano, Florian, Spiesser-Robelet, Laurence, Thiery-Vuillemin, Antoine, Thomas-Schoemann, Audrey, Tournamille, Jean-François, Valteau-Couanet, Dominique, Vienot, Angélique, Vigneron, Jean, Villeminey, Clémentine, Vinson, Camille, Braguer, Diane, Chaigneau, Aurélie, Chaussard, Michaël, Demirdjian, Sylvie, Gaudin, Amélie, Guénée de Courtivron, Charlotte, Hosten, Benoît, Morel, Daphné, Opsomer, Marie-Agnès, Petit, Marie, and Pinel, Sylvine

Published
2020
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30. Liste des collaborateurs

Author

Armoiry, Xavier, Astier, Alain, Aulagner, Gilles, Bardin, Christophe, Bichard, Damien, Boulin, Mathieu, Braguer, Diane, Breilh, Dominique, Brunie, Vanida, Burtin, Christophe, Cazin, Jean-Louis, Chaigneau, Aurélie, Chaussard, Michaël, Chenailler, Catherine, Chinot, Olivier, de Courtivron, Charlotte, Dahan, Muriel, Dansin, Éric, Demirdjian, Sylvie, Demoré, Béatrice, Desmaris, Romain-Pacôme, Estève, Marie-Anne, Fagnoni, Philippe, Faure, Pierre, Fernandez, Christine, Gaudin, Amélie, Guerrini-Rousseau, Léa, Goldwasser, François, Honoré, Stéphane, Hosten, Benoît, Kalbacher, Elsa, Kuzzay, Marie-Pierre, Latour, Jean-François, Lemare, François, Lévêque, Dominique, Limat, Samuel, Madelaine, Isabelle, Mateus, Christine, Mimoun, Aguirre, Mongaret, Céline, Morel, Daphné, Nerich, Virginie, Noé, Gaëlle, Noirez, Véronique, Opsomer, Marie-Agnès, Penel, Nicolas, Petit, Marie, Pinel, Sylvine, Puisset, Florent, Rizzo-Padoin, Nathalie, Robert, Caroline, Sautou, Valérie, Servant, Vincent, Servent, Véronique, Spiesser-Robelet, Laurence, Thiery-Vuillemin, Antoine, Thomas-Schoemann, Audrey, Tournamille, Jean-François, Valteau-Couanet, Dominique, Vigneron, Jean, Voidey, Aline, and Xuereb, Fabien

Published
2016
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31. Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome.

Author

Guerrini-Rousseau L, Merlevede J, Denizeau P, Andreiuolo F, Varlet P, Puget S, Beccaria K, Blauwblomme T, Cabaret O, Hamzaoui N, Bourdeaut F, Faure-Conter C, Muleris M, Colas C, Adam de Beaumais T, Castel D, Rouleau E, Brugières L, Grill J, and Debily MA

Abstract

Background: Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition due to biallelic mutations in one of the mismatch repair (MMR) genes associated with early onset of cancers, especially high-grade gliomas. Our aim was to decipher the molecular specificities of these gliomas., Methods: Clinical, histopathological, and whole exome sequencing data were analyzed in 12 children with genetically proven CMMRD and a high-grade glioma., Results: PDL1 expression was present in immunohistochemistry in 50% of the samples. In 9 patients, the glioma harbored an ultra-hypermutated phenotype (104-635 coding single nucleotide variants (SNV) per Mb, median 204). Driver mutations in POLE and POLD1 exonuclease domains were described for 8 and 1 patients respectively and were always present in the mutation burst with the highest variant allele frequency (VAF). The mutational signatures were dominated by MMR-related ones and similar in the different mutation bursts of a same patient without subsequent enrichment of the mutation signatures with POL-driven ones. Median number of coding SNV with VAF above one of the driving polymerase mutation per Mb was 57 (17-191). Our findings suggest that somatic polymerase alterations does not entirely explain the ultra-hypermutant phenotype. SETD2 , TP53 , NF1 , EPHB2 , PRKDC, and DICER1 genes were frequently mutated with higher VAF than the deleterious somatic polymerase mutation., Conclusions: CMMRD-associated gliomas have a specific oncogenesis that does not involve usual pathways and mutations seen in sporadic pediatric or adult glioblastomas. Frequent alterations in other pathways such as MAPK may suggest the use of other targeted therapies along with PD1 inhibitors., Competing Interests: The authors have no commercial association that might pose or create the appearance of a conflict of interest with the information presented in the submitted manuscript., (© The Author(s) 2024. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.)

Published
2024
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