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1. ctDNA quantification improves estimation of outcomes in patients with high-grade osteosarcoma: a translational study from the OS2006 trial

Author

Audinot, B., Drubay, D., Gaspar, N., Mohr, A., Cordero, C., Marec-Bérard, P., Lervat, C., Piperno-Neumann, S., Jimenez, M., Mansuy, L., Castex, M.-P., Revon-Riviere, G., Marie-Cardine, A., Berger, C., Piguet, C., Massau, K., Job, B., Moquin-Beaudry, G., Le Deley, M.-C., Tabone, M.-D., Berlanga, P., Brugières, L., Crompton, B.D., Marchais, A., and Abbou, S.

Published
2024
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4. ctDNA quantification improves estimation of outcomes in patients with high-grade osteosarcoma: a translational study from the OS2006 trial

Author

Audinot, B., primary, Drubay, D., additional, Gaspar, N., additional, Mohr, A., additional, Cordero, C., additional, Marec-Bérard, P., additional, Lervat, C., additional, Piperno-Neumann, S., additional, Jimenez, M., additional, Mansuy, L., additional, Castex, M.-P., additional, Revon-Riviere, G., additional, Marie-Cardine, A., additional, Berger, C., additional, Piguet, C., additional, Massau, K., additional, Job, B., additional, Moquin-Beaudry, G., additional, Le Deley, M.-C., additional, Tabone, M.-D., additional, Berlanga, P., additional, Brugières, L., additional, Crompton, B.D., additional, Marchais, A., additional, and Abbou, S., additional

Published
2023
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5. Bone sarcomas: ESMO–PaedCan–EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up

Author

Casali, P.G., Bielack, S., Abecassis, N., Aro, H.T., Bauer, S., Biagini, R., Bonvalot, S., Boukovinas, I., Bovee, J V M G, Brennan, B., Brodowicz, T., Broto, J.M., Brugières, L., Buonadonna, A., De Álava, E., Dei Tos, A.P., Del Muro, X.G., Dileo, P., Dhooge, C., Eriksson, M., Fagioli, F., Fedenko, A., Ferraresi, V., Ferrari, A., Ferrari, S., Frezza, A.M., Gaspar, N., Gasperoni, S., Gelderblom, H., Gil, T., Grignani, G., Gronchi, A., Haas, R.L., Hassan, B., Hecker-Nolting, S., Hohenberger, P., Issels, R., Joensuu, H., Jones, R.L., Judson, I., Jutte, P., Kaal, S., Kager, L., Kasper, B., Kopeckova, K., Krákorová, D.A., Ladenstein, R., Le Cesne, A., Lugowska, I., Merimsky, O., Montemurro, M., Morland, B., Pantaleo, M.A., Piana, R., Picci, P., Piperno-Neumann, S., Pousa, A.L., Reichardt, P., Robinson, M.H., Rutkowski, P., Safwat, A.A., Schöffski, P., Sleijfer, S., Stacchiotti, S., Strauss, S.J., Sundby Hall, K., Unk, M., Van Coevorden, F., van der Graaf, W.T.A., Whelan, J., Wardelmann, E., Zaikova, O., and Blay, J.Y.

Published
2018
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8. Joint adolescent–adult early phase clinical trials to improve access to new drugs for adolescents with cancer: proposals from the multi-stakeholder platform—ACCELERATE

Author

Gaspar, N., Marshall, L.V., Binner, D., Herold, R., Rousseau, R., Blanc, P., Capdeville, R., Carleer, J., Copland, C., Kerloeguen, Y., Norga, K., Pacaud, L., Sevaux, M.-A., Spadoni, C., Sterba, J., Ligas, F., Taube, T., Uttenreuther-Fischer, M., Chioato, S., O'Connell, M.A., Geoerger, B., Blay, J.-Y., Soria, J.C., Kaye, S., Wulff, B., Brugières, L., Vassal, G., and Pearson, A.D.J.

Published
2018
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14. ALK INHIBITORS SAFETY PROFILE IN PEDIATRIC PATIENTS TREATED FOR AN ALK-POSITIVE ANAPLASTIC LARGE CELL LYMPHOMA: REAL LIFE EXPERIENCE AMONG A FRENCH COHORT

Author

d’Hautefeuille, C., primary, Abbou, S., additional, El-Gourari-Miaz, L., additional, Lambilliotte, A., additional, Renard, C., additional, Landman-Parker, J., additional, Gourdon, S., additional, Metayer, L., additional, Leblanc, T., additional, Pacquement, H., additional, Rabian, F., additional, Verschuur, A., additional, Brasme, J., additional, Millot, F., additional, Pagnier, A., additional, Buchbinder, N., additional, Rorhlich, P., additional, Minard-Colin, V., additional, Brugières, L., additional, Ducassou, S., additional, and Rigaud, C., additional

Published
2022
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18. Essential medicines for childhood cancer in Europe: a pan-European, systematic analysis by SIOPE

Author

Maria, O, Eva, B, Pamela R, K, Olga, K, Marko, O, Reineke A, S, Gilles, V, Achini, F, Balduzzi, A, Beck Popovic, M, Beishuizen, A, Bergamaschi, L, Biondi, A, Bourdeaut, F, Braicu, E, Brok, J, Brugières, L, Burke, A, Calaminus, G, Casanova, M, Choucair, M, Cleirec, M, Corbaciouglu, S, Genoveva Correa Llano, M, De Rojas, T, Domínguez Pinilla, N, Elmaraghi, C, Ferrari, A, Fossa, A, Gaspar, N, Herold, N, Karapiperi, K, Karu, M, Kjærsgaar, M, Knörr, F, Koenig, C, Kranjcec, I, Krawczyk, M, Lehmberg, K, Lehrnbecher, T, Lunesink, M, Massano, D, Matijasic, N, Merks, H, Metzler, M, Michalski, A, Minkov, M, Morland, B, Niktoreh, N, Oltenau, E, Orbach, D, Owens, C, Papachristidou, S, Pasqualini, C, Pavlovic, M, Perez Albert, P, Poyer, F, Radulovic, I, Reinhardt, D, Rebelo, J, Roser, E, Russo, I, Scheinemann, K, Schindera, C, Schrappe, M, Sehested, A, Sehouli, J, Spreafico, F, J Strauss, S, Stutterheim, J, Svojgr, K, Tzotzola, V, Van Ewijk, R, Verschuur, A, Vora, A, Woessmann, W, Zajac-Spychala, O, Zwaan, M, Otth, Maria, Brack, Eva, Kearns, Pamela R, Kozhaeva, Olga, Ocokoljic, Marko, Schoot, Reineke A, Vassal, Gilles, Federica Achini, Adriana Balduzzi, Maja Beck Popovic, Auke Beishuizen, Luca Bergamaschi, Andrea Biondi, Franck Bourdeaut, Elena Braicu, Jesper Brok, Laurence Brugières, Amos Burke, Gabriele Calaminus, Michela Casanova, Marie-Louise Choucair, Morgane Cleirec, Selim Corbaciouglu, Maria Genoveva Correa Llano, Teresa De Rojas, Nerea Domínguez Pinilla, Caroline Elmaraghi, Andrea Ferrari, Alexander Fossa, Nathalie Gaspar, Nikolas Herold, Kyriaki Karapiperi, Maarja Karu, Mimi Kjærsgaar, Fabian Knörr, Christa Koenig, Izabela Kranjcec, Malgorzata Krawczyk, Kai Lehmberg, Thomas Lehrnbecher, Maaike Lunesink, Davide Massano, Nuša Matijasic, Hans Merks, Markus Metzler, Anthony Michalski, Milen Minkov, Bruce Morland, Naghmeh Niktoreh, Elena Oltenau, Daniel Orbach, Cormac Owens, Smaragda Papachristidou, Claudia Pasqualini, Maja Pavlovic, Paula Perez Albert, Fiona Poyer, Ivana Radulovic, Dirk Reinhardt, Joana Rebelo, Eva Roser, Ida Russo, Katrin Scheinemann, Christina Schindera, Martin Schrappe, Astrid Sehested, Jalid Sehouli, Filippo Spreafico, Sandra J Strauss, Janine Stutterheim, Karel Svojgr, Vasiliki Tzotzola, Roelof Van Ewijk, Arnauld Verschuur, Ajay Vora, Willi Woessmann, Olga Zajac-Spychala, Michel Zwaan, Maria, O, Eva, B, Pamela R, K, Olga, K, Marko, O, Reineke A, S, Gilles, V, Achini, F, Balduzzi, A, Beck Popovic, M, Beishuizen, A, Bergamaschi, L, Biondi, A, Bourdeaut, F, Braicu, E, Brok, J, Brugières, L, Burke, A, Calaminus, G, Casanova, M, Choucair, M, Cleirec, M, Corbaciouglu, S, Genoveva Correa Llano, M, De Rojas, T, Domínguez Pinilla, N, Elmaraghi, C, Ferrari, A, Fossa, A, Gaspar, N, Herold, N, Karapiperi, K, Karu, M, Kjærsgaar, M, Knörr, F, Koenig, C, Kranjcec, I, Krawczyk, M, Lehmberg, K, Lehrnbecher, T, Lunesink, M, Massano, D, Matijasic, N, Merks, H, Metzler, M, Michalski, A, Minkov, M, Morland, B, Niktoreh, N, Oltenau, E, Orbach, D, Owens, C, Papachristidou, S, Pasqualini, C, Pavlovic, M, Perez Albert, P, Poyer, F, Radulovic, I, Reinhardt, D, Rebelo, J, Roser, E, Russo, I, Scheinemann, K, Schindera, C, Schrappe, M, Sehested, A, Sehouli, J, Spreafico, F, J Strauss, S, Stutterheim, J, Svojgr, K, Tzotzola, V, Van Ewijk, R, Verschuur, A, Vora, A, Woessmann, W, Zajac-Spychala, O, Zwaan, M, Otth, Maria, Brack, Eva, Kearns, Pamela R, Kozhaeva, Olga, Ocokoljic, Marko, Schoot, Reineke A, Vassal, Gilles, Federica Achini, Adriana Balduzzi, Maja Beck Popovic, Auke Beishuizen, Luca Bergamaschi, Andrea Biondi, Franck Bourdeaut, Elena Braicu, Jesper Brok, Laurence Brugières, Amos Burke, Gabriele Calaminus, Michela Casanova, Marie-Louise Choucair, Morgane Cleirec, Selim Corbaciouglu, Maria Genoveva Correa Llano, Teresa De Rojas, Nerea Domínguez Pinilla, Caroline Elmaraghi, Andrea Ferrari, Alexander Fossa, Nathalie Gaspar, Nikolas Herold, Kyriaki Karapiperi, Maarja Karu, Mimi Kjærsgaar, Fabian Knörr, Christa Koenig, Izabela Kranjcec, Malgorzata Krawczyk, Kai Lehmberg, Thomas Lehrnbecher, Maaike Lunesink, Davide Massano, Nuša Matijasic, Hans Merks, Markus Metzler, Anthony Michalski, Milen Minkov, Bruce Morland, Naghmeh Niktoreh, Elena Oltenau, Daniel Orbach, Cormac Owens, Smaragda Papachristidou, Claudia Pasqualini, Maja Pavlovic, Paula Perez Albert, Fiona Poyer, Ivana Radulovic, Dirk Reinhardt, Joana Rebelo, Eva Roser, Ida Russo, Katrin Scheinemann, Christina Schindera, Martin Schrappe, Astrid Sehested, Jalid Sehouli, Filippo Spreafico, Sandra J Strauss, Janine Stutterheim, Karel Svojgr, Vasiliki Tzotzola, Roelof Van Ewijk, Arnauld Verschuur, Ajay Vora, Willi Woessmann, Olga Zajac-Spychala, and Michel Zwaan

Abstract

Background: Shortages and unequal access to anticancer medicines for children and adolescents are a reality in Europe. The aim of the European Society for Paediatric Oncology (SIOPE) Essential Anticancer Medicines Project was to provide a list of anticancer medicines that are considered essential in the treatment of paediatric cancers to help ensure their continuous access to all children and adolescents with cancer across Europe. Methods: This pan-European project, done between Jan 20, 2020, and Feb 18, 2022, was designed to be a systematic collection and review of treatment protocols and strategies that are used to treat childhood cancer in Europe. We formed 16 working groups on the basis of paediatric cancer types, and which were based on the existing SIOPE Clinical Trial Groups. Workings groups consisted of representatives from the SIOPE Clinical Trial Groups, Young SIOPE members, and senior paediatric oncology experts. Each group collected existing treatment protocols that are used to treat the respective cancer types in Europe. Medicines from the standard group of each protocol were extracted. For medicines not on the WHO Essential Medicines List for children (EMLc) 2017, working groups did a literature search to determine whether the medicines should be defined as essential, promising, or neither essential nor promising. Each group provided an individual summary, and all medicines that were considered essential by at least one group were combined in a joint list. Findings: The working groups identified 73 treatment protocols used in Europe and defined 66 medicines as essential. For several newer medicines, such as kinase inhibitors or tisagenlecleucel, the supporting evidence was insufficient to consider them essential, so these medicines were defined as promising. 25 medicines were considered promising by at least one working group. 22 (33%) of the 66 essential and none of the promising medicines were included in the WHO EMLc 2017. The WHO EMLc 2021 included

Published
2022

20. Long-term morbidity and mortality in 2-year hepatoblastoma survivors treated with SIOPEL risk-adapted strategies

Author

Illiano, M., primary, Colinard, M., additional, Taque, S., additional, Mallon, B., additional, Larue, C., additional, Laithier, V., additional, Vérité-Goulard, C., additional, Sudour-Bonnange, H., additional, Faure-Conter, C., additional, Coze, C., additional, Aerts, I., additional, De Maricourt, C. Dumesnil, additional, Paillard, C., additional, Branchereau, S., additional, Brugières, L., additional, and Fresneau, B., additional

Published
2021
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21. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

Author

Lavoine, N, Colas, C, Muleris, M, Bodo, S, Duval, A, Entz-Werle, N, Coulet, F, Cabaret, O, Andreiuolo, F, Charpy, C, Sebille, G, Wang, Q, Lejeune, S, Buisine, M P, Leroux, D, Couillault, G, Leverger, G, Fricker, J P, Guimbaud, R, Mathieu-Dramard, M, Jedraszak, G, Cohen-Hagenauer, O, Guerrini-Rousseau, L, Bourdeaut, F, Grill, J, Caron, O, Baert-Dusermont, S, Tinat, J, Bougeard, G, Frébourg, T, and Brugières, L

Published
2015
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23. Second malignant neoplasms after treatment of non-Hodgkin's lymphoma-a retrospective multinational study of 189 children and adolescents

Author

Attarbaschi A, Carraro E, Ronceray L, Andrés M, Barzilai-Birenboim S, Bomken S, Brugières L, Burkhardt B, Ceppi F, Chiang AKS, Csoka M, Fedorova A, Jazbec J, Kabickova E, Loeffen J, Mellgren K, Miakova N, Moser O, Osumi T, Pourtsidis A, Rigaud C, Uyttebroeck A, Woessmann W, Pillon M, and European Intergroup for Childhood Non-Hodgkin’s Lymphoma (EICNHL) and the Intern

Subjects
hemic and lymphatic diseases
Abstract

Data on the spectrum of second malignant neoplasms (SMNs) after primary childhood non-Hodgkin's lymphoma (NHL) are scarce. One-hundred-and-eighty-nine NHL patients diagnosed in a 30 years period of 1980-2010 developing an SMN were retrieved from 19 members of the European Intergroup for Childhood NHL and/or the international Berlin-Frankfurt-Münster Study Group. Five subgroups of SMNs were identified: (1) myeloid neoplasms (n = 43; 23%), (2) lymphoid neoplasms (n = 51; 27%), (3) carcinomas (n = 48; 25%), (4) central nervous system (CNS) tumors (n = 19; 10%), and (5) "other" SMNs (n = 28; 15%). In 37 patients (20%) preexisting disorders were reported with 90% having any kind of cancer predisposition syndrome (CPS). For the 189 primary NHL patients, 5-year overall survival (OS) after diagnosis of an SMN was 56 ± 4%, being worst for patients with preexisting disorders at 28 ± 8%. Five-year OS rates were 38 ± 8%, 59 ± 7%, 79 ± 8%, 34 ± 12%, and 62 ± 11%, respectively, for patients with myeloid and lymphoid neoplasms, carcinomas, CNS tumors, and "other" SMNs (p < 0.0001). Patients with SMNs after childhood NHL having a reported CPS, mostly mismatch repair disorders, carried a very poor prognosis. Moreover, although outcome was favorable in some subtypes of SMNs after childhood NHL (carcinomas, lymphoid neoplasms), other SMNs such as myeloid neoplasms and CNS tumors had a dismal prognosis.

Published
2020

25. Osteosarcomas of the mandible: multidisciplinary management of a rare tumor of the young adult a cooperative study of the GSF-GETO, Rare Cancer Network, GETTEC/REFCOR and SFCE†

Author

Thariat, J., Schouman, T., Brouchet, A., Sarini, J., Miller, R. C., Reychler, H., Ray-Coquard, I., Italiano, A., Verite, C., Sohawon, S., Bompas, E., Dassonville, O., Salas, S., Aldabbagh, K., Maingon, P., de La MotteRouge, T., Kurtz, J. E., Usseglio, J., Kerbrat, P., Raoul, G., Lotz, J. P., Bar-Sela, G., Brugières, L., Chaigneau, L., Saada, E., Odin, G., Marcy, P. Y., Thyss, A., and Julieron, M.

Published
2013
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33. 114 - ALK INHIBITORS SAFETY PROFILE IN PEDIATRIC PATIENTS TREATED FOR AN ALK-POSITIVE ANAPLASTIC LARGE CELL LYMPHOMA: REAL LIFE EXPERIENCE AMONG A FRENCH COHORT

Author

d’Hautefeuille, C., Abbou, S., El-Gourari-Miaz, L., Lambilliotte, A., Renard, C., Landman-Parker, J., Gourdon, S., Metayer, L., Leblanc, T., Pacquement, H., Rabian, F., Verschuur, A., Brasme, J., Millot, F., Pagnier, A., Buchbinder, N., Rorhlich, P., Minard-Colin, V., Brugières, L., Ducassou, S., and Rigaud, C.

Published
2022
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38. Repertoire sequencing of B cells elucidates the role of UNG and mismatch repair proteins in somatic hypermutation in humans

Author

IJspeert, H. (Hanna), Schouwenburg, P.A. (Pauline) van, Pico-Knijnenburg, I. (Ingrid), Loeffen, J. (Jan), Brugières, L. (Laurence), Driessen, G.J.A. (Gertjan), Blattmann, C. (Claudia), Suerink, M. (Manon), Januszkiewicz-Lewandowska, D. (Danuta), Azizi, A.A. (Amedeo A.), Seidel, M.G. (Marcus G.), Jacobs, H. (Heinz), Burg, M. (Mirjam) van der, IJspeert, H. (Hanna), Schouwenburg, P.A. (Pauline) van, Pico-Knijnenburg, I. (Ingrid), Loeffen, J. (Jan), Brugières, L. (Laurence), Driessen, G.J.A. (Gertjan), Blattmann, C. (Claudia), Suerink, M. (Manon), Januszkiewicz-Lewandowska, D. (Danuta), Azizi, A.A. (Amedeo A.), Seidel, M.G. (Marcus G.), Jacobs, H. (Heinz), and Burg, M. (Mirjam) van der

Abstract

The generation of high-affinity antibodies depends on somatic hypermutation (SHM). SHM is initiated by the activation-induced cytidine deaminase (AID), which generates uracil (U) lesions in the B-cell receptor (BCR) encoding genes. Error-prone processing of U lesions creates a typical spectrum of point mutations during SHM. The aim of this study was to determine the molecular mechanism of SHM in humans; currently available knowledge is limited by the number of mutations analyzed per patient. We collected a unique cohort of 10 well-defined patients with bi-allelic mutations in genes involved in base excision repair (BER) (UNG) or mismatch repair (MMR) (MSH2, MSH6, or PMS2) and are the first to present next-generation sequencing (NGS) data of the BCR, allowing us to study SHM extensively in humans. Analysis using ARGalaxy revealed selective skewing of SHM mutation patterns specific for each genetic defect, which are in line with the five-pathway model of SHM that was recently proposed based on mice data. However, trans-species comparison revealed differences in the role of PMS2 and MSH2 in strand targeting between mice and man. In conclusion, our results indicate a role for UNG, MSH2, MSH6, and PMS2 in the generation of SHM in humans comparable to their function in mice. However, we observed differences in strand targeting between humans and mice, emphasizing the importance of studying molecular mechanisms in a human setting. The here developed method combining NGS and ARGalaxy analysis of BCR mutation data forms the basis for efficient SHM analyses of other immune deficiencies.

Published
2019
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41. RESPONSE-ADAPTED TREATMENT WITH NIVOLUMAB AND BRENTUXIMAB VEDOTIN IN YOUNG PATIENTS WITH RELAPSED/REFRACTORY CLASSICAL HODGKIN LYMPHOMA: CHECKMATE 744 SUBGROUP ANALYSES

Author

Kelly, K.M., primary, Daw, S., additional, Mauz-Körholz, C., additional, Mascarin, M., additional, Michel, G., additional, Cooper, S., additional, Beishuizen, A., additional, Leger, K.J., additional, Garaventa, A., additional, Buffardi, S., additional, Brugières, L., additional, Harker-Murray, P., additional, Cole, P.D., additional, Drachtman, R.A., additional, Manley, T., additional, Francis, S., additional, Sacchi, M., additional, and Leblanc, T., additional

Published
2019
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42. S822 NIVOLUMAB AND BRENTUXIMAB VEDOTIN-BASED, RESPONSE-ADAPTED TREATMENT IN PRIMARY REFRACTORY AND IN PEDIATRIC PATIENTS WITH RELAPSED/REFRACTORY CLASSICAL HODGKIN LYMPHOMA IN CHECKMATE 744

Author

Leblanc, T., primary, Harker-Murray, P., additional, Mauz-Körholz, C., additional, Mascarin, M., additional, Michel, G., additional, Cooper, S., additional, Beishuizen, A., additional, Leger, K.J., additional, Garaventa, A., additional, Buffardi, S., additional, Brugières, L., additional, Kelly, K.M., additional, Cole, P.D., additional, Drachtman, R.A., additional, Manley, T., additional, Francis, S., additional, Sacchi, M., additional, and Daw, S., additional

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

Author

Waszak, SM, Northcott, PA, Buchhalter, I, Robinson, GW, Sutter, C, Groebner, S, Grund, KB, Brugières, L, Jones, DTW, Pajtler, KW, Morrissy, AS, Kool, M, Sturm, D, Chavez, L, Ernst, A, Brabetz, S, Hain, M, Zichner, T, Segura-Wang, M, Weischenfeldt, J, Rausch, T, Mardin, BR, Zhou, X, Baciu, C, Lawerenz, C, Chan, JA, Varlet, P, Guerrini-Rousseau, L, Fults, DW, Grajkowska, W, Hauser, P, Jabado, N, Ra, YS, Zitterbart, K, Shringarpure, SS, De La Vega, FM, Bustamante, CD, Ng, HK, Perry, A, MacDonald, TJ, Hernáiz Driever, P, Bendel, AE, Bowers, DC, McCowage, G, Chintagumpala, MM, Cohn, R, Hassall, T, Fleischhack, G, Eggen, T, Wesenberg, F, Feychting, M, Lannering, B, Schüz, J, Johansen, C, Andersen, TV, Röösli, M, Kuehni, CE, Grotzer, M, Kjaerheim, K, Monoranu, CM, Archer, TC, Duke, E, Pomeroy, SL, Shelagh, R, Frank, S, Sumerauer, D, Scheurlen, W, Ryzhova, MV, Milde, T, Kratz, CP, Samuel, D, Zhang, J, Solomon, DA, Marra, M, Eils, R, Bartram, CR, von Hoff, K, Rutkowski, S, Ramaswamy, V, Gilbertson, RJ, Korshunov, A, Taylor, MD, Lichter, P, Malkin, D, Gajjar, A, Korbel, JO, Pfister, SM, Waszak, SM, Northcott, PA, Buchhalter, I, Robinson, GW, Sutter, C, Groebner, S, Grund, KB, Brugières, L, Jones, DTW, Pajtler, KW, Morrissy, AS, Kool, M, Sturm, D, Chavez, L, Ernst, A, Brabetz, S, Hain, M, Zichner, T, Segura-Wang, M, Weischenfeldt, J, Rausch, T, Mardin, BR, Zhou, X, Baciu, C, Lawerenz, C, Chan, JA, Varlet, P, Guerrini-Rousseau, L, Fults, DW, Grajkowska, W, Hauser, P, Jabado, N, Ra, YS, Zitterbart, K, Shringarpure, SS, De La Vega, FM, Bustamante, CD, Ng, HK, Perry, A, MacDonald, TJ, Hernáiz Driever, P, Bendel, AE, Bowers, DC, McCowage, G, Chintagumpala, MM, Cohn, R, Hassall, T, Fleischhack, G, Eggen, T, Wesenberg, F, Feychting, M, Lannering, B, Schüz, J, Johansen, C, Andersen, TV, Röösli, M, Kuehni, CE, Grotzer, M, Kjaerheim, K, Monoranu, CM, Archer, TC, Duke, E, Pomeroy, SL, Shelagh, R, Frank, S, Sumerauer, D, Scheurlen, W, Ryzhova, MV, Milde, T, Kratz, CP, Samuel, D, Zhang, J, Solomon, DA, Marra, M, Eils, R, Bartram, CR, von Hoff, K, Rutkowski, S, Ramaswamy, V, Gilbertson, RJ, Korshunov, A, Taylor, MD, Lichter, P, Malkin, D, Gajjar, A, Korbel, JO, and Pfister, SM

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 (MB WNT ), SHH (MB SHH ), group 3 (MB Group3 ), and group 4 (MB Group4 ). 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 our rare variant burden analysis, we co

Published
2018

46. Bone sarcomas: ESMO–PaedCan–EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up

Author

Casali, Paolo G., Bielack, S., Abecassis, N., Aro, H. T., Bauer, Sebastian, Biagini, R., Bonvalot, Sylvie, Boukovinas, I., Bovee, J. V. M. G., Brennan, Bernadette, Brodowicz, T., Martín-Broto, Javier, Brugières, L., Buonadonna, A., Álava, Enrique de, Dei Tos, Angelo Paolo, García del Muro, Xavier, Dileo, P., Dhooge, C., Eriksson, Mikael, Fagioli, F., Fedenko, Alexander, Ferraresi, Virginia, Ferrari, A., Frezza, Anna M., Gaspar, Nathalie, Gasperoni, Silvia, Gelderblom, Hans, Gil, T., Grignani, Giovanni, Gronchi, Alesandro, Haas, R. L., Hassan, B., Hecker-Nolting, S., Hohenberger, Peter, Issels, R., Joensuu, Heikki, Jones, Robin L., Judson, I., Jutte, P., Kaal, S., Kager, L., Kasper, Bernd, Kopeckova, K., Krákorová, D. A., Ladenstein, Rudolf, Le Cesne, Axel, Lugowska, Iwona, Merimsky, O., Montemurro, M., Morland, B., Pantaleo, M. A., Piana, R., Picci, Piero, Piperno-Neumann, S., Pousa, A. L., Reichardt, Peter, Robinson, M. H., Rutkowski, Piotr, Safwat, A. A., Schöffski, P., Sleijfer, S., Stacchiotti, Silvia, Strauss, Sandra, Sundby Hall, K., Unk, M., van Coevorden, F., van der Graaf, W. T., Whelan, Jeremy, Wardelmann, Eva, Zaikova, O., Blay, Jean-Yves, Casali, Paolo G., Bielack, S., Abecassis, N., Aro, H. T., Bauer, Sebastian, Biagini, R., Bonvalot, Sylvie, Boukovinas, I., Bovee, J. V. M. G., Brennan, Bernadette, Brodowicz, T., Martín-Broto, Javier, Brugières, L., Buonadonna, A., Álava, Enrique de, Dei Tos, Angelo Paolo, García del Muro, Xavier, Dileo, P., Dhooge, C., Eriksson, Mikael, Fagioli, F., Fedenko, Alexander, Ferraresi, Virginia, Ferrari, A., Frezza, Anna M., Gaspar, Nathalie, Gasperoni, Silvia, Gelderblom, Hans, Gil, T., Grignani, Giovanni, Gronchi, Alesandro, Haas, R. L., Hassan, B., Hecker-Nolting, S., Hohenberger, Peter, Issels, R., Joensuu, Heikki, Jones, Robin L., Judson, I., Jutte, P., Kaal, S., Kager, L., Kasper, Bernd, Kopeckova, K., Krákorová, D. A., Ladenstein, Rudolf, Le Cesne, Axel, Lugowska, Iwona, Merimsky, O., Montemurro, M., Morland, B., Pantaleo, M. A., Piana, R., Picci, Piero, Piperno-Neumann, S., Pousa, A. L., Reichardt, Peter, Robinson, M. H., Rutkowski, Piotr, Safwat, A. A., Schöffski, P., Sleijfer, S., Stacchiotti, Silvia, Strauss, Sandra, Sundby Hall, K., Unk, M., van Coevorden, F., van der Graaf, W. T., Whelan, Jeremy, Wardelmann, Eva, Zaikova, O., and Blay, Jean-Yves

Published
2018

47. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood

Author

Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Salvador-Hernandez H, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, and Plon SE

Abstract

Hereditary gastrointestinal cancer predisposition syndromes have been well characterized, but management strategies and surveillance remain a major challenge, especially in childhood. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of children with cancer predisposition syndromes. In this article, we review the current literature in polyposis syndromes that can be diagnosed in childhood and may be associated with an increased incidence of gastrointestinal neoplasms and other cancer types. These disorders include adenomatous polyposis syndromes (APC and MUTYH), juvenile polyposis coli (BMPR1A and SMAD4), Peutz-Jeghers Syndrome (STK11/LKB1), and PTEN hamartoma tumor syndrome (PHTS; PTEN), which can present with a more limited juvenile polyposis phenotype. Herein, the panel of experts provides recommendations for clinical diagnosis, approach to genetic testing, and focus on cancer surveillance recommendations when appropriate during the pediatric period. We also review current controversies on genetic evaluation of patients with hepatoblastoma and indications for surveillance for this tumor. Childhood cancer risks and surveillance associated with disorders involving the mismatch repair genes, including Lynch syndrome and constitutional mismatch repair deficiency (CMMRD), are discussed elsewhere in this series. Clin Cancer Res; 23(13); e107-e14. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.

Published
2017

50. Biomarker-driven access to crizotinib in ALK, MET or ROS1 positive (+) malignancies in adults and children: The French national AcSé program

Author

Vassal, G., primary, Cozic, N., additional, Houot, R., additional, Brugières, L., additional, Aparicio, T., additional, Blay, J.-Y., additional, Perol, M., additional, Brice, P., additional, Meriaux, E., additional, Geoerger, B., additional, El Bejjani, M.R., additional, Moalla, S., additional, Bièche, I., additional, Lantuejoul, S., additional, Mahier Ait Oukhatar, C., additional, Hoog Labouret, N., additional, and Moro-Sibilot, D., additional

Published
2018
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