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1. Alveolar soft part sarcomas in young patients: The French national NETSARC+ network experience

Author

Genevois, Anne-Laure, Carton, Matthieu, Jean-Denis, Myriam, Cyrta, Joanna, Corradini, Nadège, Metayer, Lucy, Chemin-Airiau, Claire, Karanian, Marie, Dufresne, Armelle, Pannier, Stéphanie, El Zein, Sophie, Defachelles, Anne-Sophie, Bompas, Emmanuelle, Gantzer, Justine, Honoré, Charles, Noal, Sabine, Héritier, Sébastien, Guillemet, Cécile, Serre, Jill, Le Loarer, François, Pierron, Gaëlle, Merlin, Marie-Sophie, Anract, Philippe, Gomez-Mascard, Anne, Llacer, Carmen, Ducimetière, Françoise, Toulmonde, Maud, Blay, Jean-Yves, and Orbach, Daniel

Published
2024
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2. Impact of age on survival according to molecular tumor findings in children and adolescents with soft-tissue and bone sarcoma: The BIOSCA project

Author

Desandes, Emmanuel, Lapouble, Eve, Lacour, Brigitte, Guissou, Sandra, Goujon, Stéphanie, Defachelles, Anne-Sophie, Marechal, Valérie, Gaspar, Nathalie, Gomez-Mascard, Anne, Karanian, Marie, Marec-Berard, Perrine, Minard-Colin, Véronique, Orbach, Daniel, Tabone, Marie-Dominique, Delattre, Olivier, and Pierron, Gaelle

Published
2024
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3. Chemo-immunotherapy with dinutuximab beta in patients with relapsed/progressive high-risk neuroblastoma: does chemotherapy backbone matter?

Author

Raiser, Patricia, Schleiermacher, Gudrun, Gambart, Marion, Dumont, Benoit, Defachelles, Anne-Sophie, Thebaud, Estelle, Tandonnet, Julie, Pasqualini, Claudia, Proust, Stéphanie, Entz-Werle, Natacha, Aerts, Isabelle, Ndounga-Diakou, Lee A., Petit, Arnaud, Puiseux, Chloe, Khanfar, Camille, Rouger, Jeremie, Mansuy, Ludovic, Benadiba, Joy, Millot, Frédéric, Pluchart, Claire, Laghouati, Salim, Geoerger, Birgit, Vassal, Gilles, Valteau-Couanet, Dominique, and Berlanga, Pablo

Published
2024
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4. Clinical trial inclusion in patients with relapsed/refractory neuroblastoma following the European Precision Cancer Medicine trial MAPPYACTS

Author

Chaix, Jordane, Schleiermacher, Gudrun, Corradini, Nadège, André, Nicolas, Thebaud, Estelle, Gambart, Marion, Defachelles, Anne-Sophie, Entz-Werle, Natacha, Chastagner, Pascal, De Carli, Émilie, Ducassou, Stéphane, Landman-Parker, Judith, Adam-de-Beaumais, Tiphaine, Larive, Alicia, Michiels, Stefan, Vassal, Gilles, Valteau-Couanet, Dominique, Geoerger, Birgit, and Berlanga, Pablo

Published
2024
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5. Leiomyosarcoma and liposarcoma in young patients: The national netsarc+ network experience

Author

Anne-Laure Genevois, Matthieu Carton, Myriam Jean-Denis, Joanna Cyrta, Nadège Corradini, Pablo Berlanga, Claire Chemin-Airiau, Charles Honore, Sophie El Zein, Anne-Sophie Defachelles, Emmanuelle Bompas, Philippe Anract, Justine Gantzer, Marie Karanian, Angélique Rome, Florence Duffaud, Christine Chevreau, Sarah Watson, Axel Le Cesne, Carmen Llacer, François Le Loarer, Gaëlle Pierron, François Gouin, Anne Gomez-Mascard, Sylvain Causeret, Françoise Ducimetière, Elsa Kalbacher, Maud Toulmonde, Jean-Yves Blay, and Daniel Orbach

Subjects
Liposarcoma, Leiomyosarcoma, Ultra-rare sarcoma, Children, Adolescent-young adults, NETSARC+, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Background: Leiomyosarcoma (LMS) and liposarcoma (LPS) are ultra-rare sarcomas in pediatric (0–18 years) and young adult (19−30) populations. We aimed to analyze their clinical characteristics at these young ages and to determine whether they should be considered with the same therapeutic strategy in both populations. Methods: National retrospective multicenter study of all young patients (0–30 years) included in the sarcoma database “ConticaBase”, treated for LMS or LPS between 2010 and 2019 via the national NETSARC+ network, with available pathology/biology review. Findings: A total of 218 patients were identified, 34 children (nine LMS, 25 LPS) and 184 young adults (58 LMS, 126 LPS). Myxoid/Round Cell LPS (M/RC-LPS) was the most frequent LPS subtype (72 %). All children had localized LMS and LPS, versus 52/58 and 116/126 respectively in adults. Clinical presentation of LMS and all LPS subtypes was comparable in both populations, except for a preferential limb location of LMS in children. The therapeutic strategy was mainly based on primary surgery in LMS (9/9 children, 52/58 adults) and for LPS (respectively 25/25 and 122/126), exclusively or with adjuvant radiotherapy and systemic treatment. With a median follow-up of 62.4 months (range, 2.5–146), 5-year overall survival was respectively 83 % [95 % CI, 58–100] in children and 73 % [61–88] in young adults for LMS, 100 % [100] vs 92 % [87–99] for M/RC-LPS and 25 % [5–100] vs 60 % [29–100] for pleomorphic LPS. Interpretation: LMS and all LPS subtypes appear to display comparable behavior in children and young adults. The authors propose that the same therapeutic strategy should be considered for both groups.

Published
2023
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6. Leiomyosarcoma and liposarcoma in young patients: The national netsarc+ network experience

Author

Genevois, Anne-Laure, Carton, Matthieu, Jean-Denis, Myriam, Cyrta, Joanna, Corradini, Nadège, Berlanga, Pablo, Chemin-Airiau, Claire, Honore, Charles, El Zein, Sophie, Defachelles, Anne-Sophie, Bompas, Emmanuelle, Anract, Philippe, Gantzer, Justine, Karanian, Marie, Rome, Angélique, Duffaud, Florence, Chevreau, Christine, Watson, Sarah, Le Cesne, Axel, Llacer, Carmen, Le Loarer, François, Pierron, Gaëlle, Gouin, François, Gomez-Mascard, Anne, Causeret, Sylvain, Ducimetière, Françoise, Kalbacher, Elsa, Toulmonde, Maud, Blay, Jean-Yves, and Orbach, Daniel

Published
2023
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8. Risk factors in pediatric Malignant Peripheral Nerve Sheath Tumors (MPNST): Results from the French Pediatric Oncology Society (SFCE) cohort

Author

Chaix, Jordane, Karanian, Marie, Corradini, Nadège, Merched, Maria, Larousserie, Frédérique, Galmiche, Louise, Lacour, Brigitte, Marie-Cardine, Aude, Defachelles, Anne-Sophie, Berlanga, Pablo, Rome, Angélique, Thébaud, Estelle, Bernier-Chastagner, Valérie, Brisse, Hervé J., Hameury, Frédéric, Wolkenstein, Pierre, Ducassou, Stéphane, Orbach, Daniel, and Vérité, Cécile

Published
2023
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9. Desmoid type fibromatosis in pediatric and young adults from French databases: Clinical characteristics and initial outcome according to age

Author

Bouttefroy, Séverine, Penel, Nicolas, Orbach, Daniel, Minard-Colin, Véronique, Le Cesne, Axel, Blay, Jean-Yves, Marec-Berard, Perrine, Verité, Cécile, Laurence, Valérie, Piperno-Neumann, Sophie, Defachelles, Anne-Sophie, Bompas, Emmanuelle, Chevreau, Christine, Duffaud, Florence, Salas, Sébastien, Morelle, Magali, Jean-Denis, Myriam, Italiano, Antoine, Bonvalot, Sylvie, and Corradini, Nadège

Published
2023
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10. Adolescent‐ and adult‐onset neuroblastic tumor: A retrospective multicenter observational study of patients diagnosed in France between 2000 and 2020

Author

Magnier, Orlane, primary, Schiff, Isabelle, additional, Cristante, Justine, additional, Chabre, Olivier, additional, Veloso, Melanie, additional, Bosson, Jean‐Luc, additional, Defachelles, Anne‐Sophie, additional, Cordero, Camille, additional, Cao, Christine Do, additional, Thebaud, Estelle, additional, Drui, Delphine, additional, Berlanga, Pablo, additional, Dumont, Benoit, additional, Chastagner, Philippe, additional, Tandonnet, Julie, additional, Gambart, Marion, additional, Jannier, Sarah, additional, Pluchart, Claire, additional, Andry, Leslie, additional, Laithier, Véronique, additional, Klein, Sébastien, additional, Carausu, Liana, additional, Akbaraly, Tasmine, additional, Probert, Jamie, additional, Habert‐Dantigny, Raphaelle, additional, and Plantaz, Dominique, additional

Published
2024
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11. Brachytherapy for Pediatric Patients at Gustave Roussy Cancer Campus: A Model of International Cooperation for Highly Specialized Treatments

Author

Chargari, Cyrus, Haie-Meder, Christine, Espenel, Sophie, Garcia, Max-Adrien, Ben-Arush, Myriam, Bolle, Stéphanie, Borjesson, Anna, Cesen, Maja, Lago, Rita Costa, Defachelles, Anne-Sophie, De Moerloose, Barbara, Devalck, Christine, Edslev, Pernille, Farinha, Nuno Jorge, Francotte, Nadine, Glosli, Heidi, Gouy, Sebastien, Burrieza, Gabriela Guillen, Helfre, Sylvie, Irtan, Sabine, Kattamis, Antonis, Lacerda, Ana, Levy, Antonin, Hjalgrim, Lisa Lyngsie, Mansuy, Ludovic, Mascard, Eric, Moalla, Salma, Orbach, Daniel, Owens, Cormac, Philippe-Chomette, Pascale, Pizer, Barry, Pluchart, Claire, Renard, Marleen, Rognlien, Anne Gro Wesenberg, Rome, Angélique, Sarnacki, Sabine, Safwat, Akmal, Schiavetti, Amalia, Serre, Jill, Verite, Cécile, Weid, Nicolas Von Der, Wysocki, Mariusz, Valteay-Couanet, Dominique, Deutsch, Eric, Minard-Colin, Véronique, Martelli, Hélène, and Guérin, Florent

Published
2022
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12. Desmoid type fibromatosis in pediatric and young adults from French databases: Clinical characteristics and initial outcome according to age

Author

Séverine Bouttefroy, Nicolas Penel, Daniel Orbach, Véronique Minard-Colin, Axel Le Cesne, Jean-Yves Blay, Perrine Marec-Berard, Cécile Verité, Valérie Laurence, Sophie Piperno-Neumann, Anne-Sophie Defachelles, Emmanuelle Bompas, Christine Chevreau, Florence Duffaud, Sébastien Salas, Magali Morelle, Myriam Jean-Denis, Antoine Italiano, Sylvie Bonvalot, and Nadège Corradini

Subjects
Desmoid-type fibromatosis, Children, Adolescent, Young adults, Active surveillance, Registry, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Background: Desmoid type fibromatosis (DTF) are rare intermediate malignancies with unpredictable outcome. Series containing children and young adults (YA) are lacking. Methods: The aim of this retrospective study was to describe the French population of patients

Published
2023
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13. Risk factors in pediatric Malignant Peripheral Nerve Sheath Tumors (MPNST): Results from the French Pediatric Oncology Society (SFCE) cohort

Author

Jordane Chaix, Marie Karanian, Nadège Corradini, Maria Merched, Frédérique Larousserie, Louise Galmiche, Brigitte Lacour, Aude Marie-Cardine, Anne-Sophie Defachelles, Pablo Berlanga, Angélique Rome, Estelle Thébaud, Valérie Bernier-Chastagner, Hervé J. Brisse, Frédéric Hameury, Pierre Wolkenstein, Stéphane Ducassou, Daniel Orbach, and Cécile Vérité

Subjects
Malignant Peripheral Nerve Sheath Tumor, Child, Adolescent, Survival rate, Pathology review, Risk factors, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Introduction: Malignant Peripheral Nerve Sheath Tumors (MPNST) are very rare and aggressive tumors, which can affect children, adolescents, and young adults. These tumors are frequently associated with type 1 neurofibromatosis (NF1). This study aims to determine prognostic factors in unselected pediatric MPNST to specify the risk stratification strategy. Methods: A national multicenter retrospective study encompassing all French pediatric patients (0–18 years) treated for MPNST, confirmed by a pathology review, from 1995 to 2017. Results: Overall, 66 patients (median age 13.0 years [range, 0.1–18.0]) developed a MPNST located in the limbs (36%), trunk (27%), head and neck (21%) and para-vertebral area (15%). Forty-eight percent of patients had NF1, 50% had a histologic grade III tumor and 77% a large tumor (>5 cm), including 30% very large (>10 cm). Most patients (94%) had localized tumors. After a median follow-up of 7.6 years [range, 0.4–18.7], the 5-year overall (OS) and event-free (EFS) survivals were 46.7% [95%CI, 35.8–60.8] and 40.8% [95%CI, 30.3–54.9], respectively. On multivariate analysis were found to be associated with a worse outcome (OS): metastatic disease (HR (Hazard-Ratio) 6.4 [1.8; 22.0]), grade 3 FNCLCC (HR 4.77 [1.4; 15.8]),> 10-cm size (HR 2.3 [1.1; 4.8]) and the presence of NF1 (HR 2.2 [1.1; 4.4]). Histologic subtypes of MPNST (classical, malignant Triton or epithelioid tumor) were not correlated with outcome. Conclusion: The overall outcome of MPNST was poor in patients with NF1 and in high grade, very large and metastatic tumors. The identification of these risk factors allows us to define adapted risk stratification to propose new therapeutic strategies for high-risk cases.

Published
2023
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14. Locally aggressive rarely metastazing tumors and low-grade sarcoma in children, adolescents and young adults: The benefits of a national network

Author

Brisset, Claire, Carton, Matthieu, Chemin-Airiau, Claire, Karanian, Marie, Vérité, Cécile, Corradini, Nadege, Mascard, Eric, Gouin, François, Bonvalot, Sylvie, Minard-Colin, Véronique, Fayard, Cindy, Pannier, Stéphanie, Blay, Jean-Yves, Le Nail, Louis-Romée, Le Loarer, François, Brisse, Hervé J., Chotel, Franck, Pierron, Gaëlle, Tirode, Franck, Defachelles, Anne-Sophie, Toulmonde, Maud, and Orbach, Daniel

Published
2022
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15. Comprehensive molecular profiling of sarcomas in adolescent and young adult patients: Results of the EORTC SPECT-AYA international proof-of-concept study

Author

Morfouace, Marie, Horak, Peter, Kreutzfeldt, Simon, Stevovic, Aleksandra, de Rojas, Teresa, Denisova, Evgeniya, Hutter, Barbara, Bautista, Francisco, Oliveira, Júlio, Defachelles, Anne-Sophie, White, Jeff, Kasper, Bernd, Preusser, Matthias, Golfinopoulos, Vassilis, Pfister, Stefan, Van der Graaf, Winette, Wardelmann, Eva, Shenjere, Patrick, Fröhling, Stefan, and McCabe, Martin G.

Published
2022
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17. Supplementary Table S4 from Phase I/II Study of the WEE1 Inhibitor Adavosertib (AZD1775) in Combination with Carboplatin in Children with Advanced Malignancies: Arm C of the AcSé-ESMART Trial

Author

Gatz, Susanne A., primary, Harttrampf, Anne C., primary, Brard, Caroline, primary, Bautista, Francisco, primary, André, Nicolas, primary, Abbou, Samuel, primary, Rubino, Jonathan, primary, Rondof, Windy, primary, Deloger, Marc, primary, Rübsam, Marc, primary, Marshall, Lynley V., primary, Hübschmann, Daniel, primary, Nebchi, Souad, primary, Aerts, Isabelle, primary, Thebaud, Estelle, primary, De Carli, Emilie, primary, Defachelles, Anne Sophie, primary, Paoletti, Xavier, primary, Godin, Robert, primary, Miah, Kowser, primary, Mortimer, Peter G.S., primary, Vassal, Gilles, primary, and Geoerger, Birgit, primary

Published
2024
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18. Data from Phase I/II Study of the WEE1 Inhibitor Adavosertib (AZD1775) in Combination with Carboplatin in Children with Advanced Malignancies: Arm C of the AcSé-ESMART Trial

Author

Gatz, Susanne A., primary, Harttrampf, Anne C., primary, Brard, Caroline, primary, Bautista, Francisco, primary, André, Nicolas, primary, Abbou, Samuel, primary, Rubino, Jonathan, primary, Rondof, Windy, primary, Deloger, Marc, primary, Rübsam, Marc, primary, Marshall, Lynley V., primary, Hübschmann, Daniel, primary, Nebchi, Souad, primary, Aerts, Isabelle, primary, Thebaud, Estelle, primary, De Carli, Emilie, primary, Defachelles, Anne Sophie, primary, Paoletti, Xavier, primary, Godin, Robert, primary, Miah, Kowser, primary, Mortimer, Peter G.S., primary, Vassal, Gilles, primary, and Geoerger, Birgit, primary

Published
2024
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19. Supplementary Figure S1 from Phase I/II Study of the WEE1 Inhibitor Adavosertib (AZD1775) in Combination with Carboplatin in Children with Advanced Malignancies: Arm C of the AcSé-ESMART Trial

Author

Gatz, Susanne A., primary, Harttrampf, Anne C., primary, Brard, Caroline, primary, Bautista, Francisco, primary, André, Nicolas, primary, Abbou, Samuel, primary, Rubino, Jonathan, primary, Rondof, Windy, primary, Deloger, Marc, primary, Rübsam, Marc, primary, Marshall, Lynley V., primary, Hübschmann, Daniel, primary, Nebchi, Souad, primary, Aerts, Isabelle, primary, Thebaud, Estelle, primary, De Carli, Emilie, primary, Defachelles, Anne Sophie, primary, Paoletti, Xavier, primary, Godin, Robert, primary, Miah, Kowser, primary, Mortimer, Peter G.S., primary, Vassal, Gilles, primary, and Geoerger, Birgit, primary

Published
2024
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20. Imaging characterization of paediatric tumours with the neurotrophic tyrosine receptor kinase fusion transcript

Author

Hermann, Anne-Laure, primary, Lemelle, Lauriane, additional, Pierron, Gaëlle, additional, Gauthier, Arnaud, additional, Nicolas, Nayla, additional, Cardoen, Liesbeth, additional, Moalla, Salma, additional, Petit, Philippe, additional, Morel, Baptiste, additional, Ducou Le Pointe, Hubert, additional, Hassani, Adnan, additional, Fréneaux, Paul, additional, Guillemot, Delphine, additional, Carton, Matthieu, additional, Corradini, Nadège, additional, Rome, Angélique, additional, Castex, Marie-Pierre, additional, Defachelles, Anne-Sophie, additional, Schleiermacher, Gudrun, additional, Berlanga, Pablo, additional, Delattre, Olivier, additional, Orbach, Daniel, additional, and Brisse, Hervé J, additional

Published
2024
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21. Clear Cell Sarcoma

Author

Firmin, Nelly, Larousserie, Frédérique, Defachelles, Anne-Sophie, Boudou-Rouquette, Pascaline, Chevreau, Christine, editor, and Italiano, Antoine, editor

Published
2020
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23. Management of sarcomas in children, adolescents and adults: Interactions in two different age groups under the umbrellas of GSF-GETO and SFCE, with the support of the NETSARC+ network

Author

Bompas, Emmanuelle, Martin, Valentine, Meniai, Fatima, Toulmonde, Maud, Marec-Berard, Perrine, Claude, Line, Ducimetiere, Françoise, Chargari, Cyrus, Minard-Colin, Véronique, Corradini, Nadège, Laurence, Valérie, Piperno-Neumann, Sophie, Defachelles, Anne-Sophie, Bernier, Valérie, Italiano, Antoine, Orbach, Daniel, Blay, Jean-Yves, Gaspar, Nathalie, and Berlanga, Pablo

Published
2021
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24. Locoregional Control and Survival in Children, Adolescents, and Young Adults With Localized Head and Neck Alveolar Rhabdomyosarcoma—The French Experience

Author

Roxane Machavoine, Sylvie Helfre, Valérie Bernier, Stéphanie Bolle, Julie Leseur, Nadège Corradini, Angélique Rome, Anne-Sophie Defachelles, Sophie Deneuve, Sophie Bernard, Pierre Fayoux, Richard Nicollas, Michel Mondain, Romain Luscan, Françoise Denoyelle, François Simon, Natacha Kadlub, Fréderic Kolb, Jean-François Honart, Daniel Orbach, Véronique Minard-Colin, Antoine Moya-Plana, and Vincent Couloigner

Subjects
alveolar rhabdomyosarcoma (ARMS), head and neck neoplasm, children, neck dissection, survival, Pediatrics, RJ1-570
Abstract

IntroductionThe head and neck (HN) are the most frequent sites of pediatric rhabdomyosarcoma (RMS). Alveolar RMS (ARMS) represents ~20% of all RMS cases and frequently spread to lymph nodes (LNs). The aim was to report locoregional control, event-free survival (EFS), and overall survival (OS), according to clinical and pathological features, LN staging, and treatment modalities.MethodsThe study included all patients prospectively enrolled in EpSSG RMS 2005 study under 21 years of age with localized HN ARMS and diagnosed between 2005 and 2016 in France. Medical data including imaging, surgical report, and radiation therapy planes were analyzed.ResultsForty-eight patients (median age 6 years; range 4 months−21 years), corresponding to 30 parameningeal and 18 non-parameningeal ARMS, were included. There were 33 boys (69%). Tumor locations included the following: orbit (n = 7) among which four cases had bone erosion, paranasal sinuses and nasal cavity (n = 16), deep facial spaces (n = 10), nasolabial fold (n = 8), and other non-parameningeal HN sites (n = 7). A fusion transcript of PAX3-FOXO1 or PAX7-FOXO1 was expressed in 33 of the 45 cases (73%) with molecular analysis. At diagnosis, 10 patients had primary resection of the primary tumor (PRPT) (none with microscopic complete resection) and 9 had LN staging. After induction chemotherapy, 26 patients (54%) had secondary resection of the primary tumor (SRPT) and 13 patients (27%) had cervical LN dissection. A total of 43 patients (90%) were treated with radiation therapy.With a median follow-up of 7 years (range 2–13 years), 5-year OS and EFS were 78% (95% CI, 63–88%) and 66% (95% CI, 51–78%), respectively. We observed 16 events (10 deaths): 4 local, 4 regional, 1 local and regional, and 7 metastatic. In univariate analysis, OS was only superior for patients under 10 years of age (p = 0.002), while FOXO1-negative ARMS, SRPT for parameningeal ARMS, and LN surgery were associated with significantly better EFS.ConclusionOur study confirms a better outcome for fusion-negative ARMS and ARMS in children under 10 years. Moreover, LN surgery and SRPT of parameningeal tumor may improve EFS of ARMS. Larger studies are needed to confirm our findings.

Published
2022
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26. Phase I/II Study of the WEE1 Inhibitor Adavosertib (AZD1775) in Combination with Carboplatin in Children with Advanced Malignancies: Arm C of the AcSé-ESMART Trial

Author

Gatz, Susanne A., primary, Harttrampf, Anne C., additional, Brard, Caroline, additional, Bautista, Francisco, additional, André, Nicolas, additional, Abbou, Samuel, additional, Rubino, Jonathan, additional, Rondof, Windy, additional, Deloger, Marc, additional, Rübsam, Marc, additional, Marshall, Lynley V., additional, Hübschmann, Daniel, additional, Nebchi, Souad, additional, Aerts, Isabelle, additional, Thebaud, Estelle, additional, De Carli, Emilie, additional, Defachelles, Anne Sophie, additional, Paoletti, Xavier, additional, Godin, Robert, additional, Miah, Kowser, additional, Mortimer, Peter G.S., additional, Vassal, Gilles, additional, and Geoerger, Birgit, additional

Published
2023
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27. Integrative clinical and biopathology analyses to understand the clinical heterogeneity of infantile rhabdomyosarcoma: A report from the French MMT committee

Author

Thibault Butel, Marie Karanian, Gaelle Pierron, Daniel Orbach, Dominique Ranchere, Nathalie Cozic, Louise Galmiche, Aurore Coulomb, Nadège Corradini, Brigitte Lacour, Stéphanie Proust, Florent Guerin, Hélène Boutroux, Angélique Rome, Ludovic Mansuy, Cécile Vérité, Anne‐Sophie Defachelles, Franck Tirode, and Veronique Minard‐Colin

Subjects
infants, newborns, rhabdoid tumor, rhabdomyosarcoma, spindle cell rhabdomyosarcoma, VGLL2, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Rhabdomyosarcoma (RMS) in infants is a particular entity with various clinical presentations and outcomes. To better understand the clinical heterogeneity of RMS in infants, an integrative clinical, histological, and molecular analysis was performed. Methods From 1989 to 2015, 37 infants aged less than 6 months with a diagnosis of RMS and archival tumor materials were identified in France. Clinical data, central pathologic review, and molecular profile including RNA sequencing were analyzed. Results Nineteen patients (51%) had embryonal RMS (ERMS) (including three highly differentiated ERMS with PTCH deletion), eight (22%) had spindle cell RMS (SRMS) (three VGLL2‐, one NTRK‐, and two (B)RAF‐fusions), six (16%) had alveolar RMS (ARMS) (all FOXO1‐ or PAX3‐fusion), two had unclassified RMS, and two poorly differentiated RMS were retrospectively diagnosed as rhabdoid tumors (RT) with loss of INI1 expression. The two RT patients died of rapid disease progression. Five‐year event‐free (EFS) and overall survival (OS) for RMS were 62% (95%CI, 47‐82) and 52% (95%CI, 37‐72). Eleven patients (31%) relapsed and four (11%) had primary refractory disease (all ERMS). In univariate analysis, EFS and OS were only associated with histology subtype, with 100% survival of known fusion‐positive SRMS. RNA cluster expression showed three main clusters: ARMS, ERMS, and “VGLL2‐fusion” cluster, consisting of SRMS and ERMS. Conclusions Biopathology findings from this study support the different prognosis of infantile RMS. New fusion‐positive SRMS has a very good outcome which may allow more conservative treatment in the future.

Published
2020
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28. Shedding a Light on the Challenges of Adolescents and Young Adults with Rhabdomyosarcoma

Author

Andrea Ferrari, Susanne Andrea Gatz, Veronique Minard-Colin, Rita Alaggio, Shushan Hovsepyan, Daniel Orbach, Patrizia Gasparini, Anne-Sophie Defachelles, Michela Casanova, Giuseppe Maria Milano, Julia C. Chisholm, Meriel Jenney, Gianni Bisogno, Timothy Rogers, Henry C. Mandeville, Janet Shipley, Aisha B. Miah, Johannes H. M. Merks, and Winette T. A. van der Graaf

Subjects
rhabdomyosarcoma, adolescents, young adults, AYA, review, clinical trial, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Rhabdomyosarcoma (RMS) is a typical tumour of childhood but can occur at any age. Several studies have reported that adolescent and young adult (AYA) patients with RMS have poorer survival than do younger patients. This review discusses the specific challenges in AYA patients with pediatric-type RMS, exploring possible underlying factors which may influence different outcomes. Reasons for AYA survival gap are likely multifactorial, and might be related to differences in tumor biology and intrinsic aggressiveness, or differences in clinical management (that could include patient referral patterns, time to diagnosis, enrolment into clinical trials, the adequacy and intensity of treatment), as well as patient factors (including physiology and comorbidity that may influence treatment tolerability, drug pharmacokinetics and efficacy). However, improved survival has been reported in the most recent studies for AYA patients treated on pediatric RMS protocols. Different strategies may help to further improve outcome, such as supporting trans-age academic societies and national/international collaborations; developing specific clinical trials without upper age limit; defining integrated and comprehensive approach to AYA patients, including the genomic aspects; establishing multidisciplinary tumor boards with involvement of both pediatric and adult oncologists to discuss all pediatric-type RMS patients; developing dedicated projects with specific treatment recommendations and registry/database.

Published
2022
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29. Nonmetastatic Rhabdomyosarcoma in Children and Adolescents: Overall Results of the European Pediatric Soft Tissue Sarcoma Study Group RMS2005 Study

Author

Gianni Bisogno, Veronique Minard-Colin, Ilaria Zanetti, Andrea Ferrari, Soledad Gallego, Raquel Dávila Fajardo, Henry Mandeville, Anna Kelsey, Rita Alaggio, Daniel Orbach, Sheila Terwisscha van Scheltinga, Gabriela Guillén Burrieza, Myriam Ben-Arush, Heidi Glosli, Peter Mudry, Sima Ferman, Christine Devalck, Anne Sophie Defachelles, Johannes Hendrikus Maria Merks, and Meriel Jenney

Subjects
Cancer Research, Oncology
Abstract

Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are not yet available. Clinical Trial Updates provide an opportunity to disseminate additional results from studies, published in JCO or elsewhere, for which the primary end point has already been reported. The RMS2005 study included two phase III randomized trials for high-risk (HR) and observational trials for low (LR), standard (SR), and very high-risk (VHR) patients who have been partially reported. Herein, we present a comprehensive report of results achieved for the complete unselected nonmetastatic cohort and analyze the evolution of treatment in comparison with previous European protocols. After a median follow-up of 73.1 months, the 5-year event-free survival (EFS) and overall survival (OS) of the 1,733 patients enrolled were 70.7% (95% CI, 68.5 to 72.8) and 80.4% (95% CI, 78.4 to 82.3), respectively. The results by subgroup: LR (80 patients) EFS 93.7% (95% CI, 85.5 to 97.3), OS 96.7% (95% CI, 87.2 to 99.2); SR (652 patients) EFS 77.4% (95% CI, 73.9 to 80.5), OS 90.6% (95% CI, 87.9 to 92.7); HR (851 patients) EFS 67.3% (95% CI, 64.0 to 70.4), OS 76.7% (95% CI, 73.6 to 79.4); and VHR (150 patients) EFS 48.8% (95% CI, 40.4 to 56.7), OS 49.7% (95% CI, 40.8 to 57.9). The RMS2005 study demonstrated that 80% of children with localized rhabdomyosarcoma could be long-term survivors. The study has established the standard of care across the European pediatric Soft tissue sarcoma Study Group countries with the confirmation of a 22-week vincristine/actinomycin D regimen for LR patients, the reduction of the cumulative ifosfamide dose in the SR group, and for HR disease, the omission of doxorubicin and the addition of maintenance chemotherapy.

Published
2023

30. Phase II study of 131I‐metaiodobenzylguanidine with 5 days of topotecan for refractory or relapsed neuroblastoma: Results of the French study MIITOP

Author

Sevrin, François, primary, Kolesnikov‐Gauthier, Hélène, additional, Cougnenc, Olivier, additional, Bogart, Emilie, additional, Schleiermacher, Gudrun, additional, Courbon, Frederic, additional, Gambart, Marion, additional, Giraudet, Anne‐Laure, additional, Corradini, Nadège, additional, Badel, Jean‐Noël, additional, Rault, Erwann, additional, Oudoux, Aurore, additional, Deley, Marie Cécile Le, additional, Valteau‐Couanet, Dominique, additional, and Defachelles, Anne‐Sophie, additional

Published
2023
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31. Neurotrophic tropomyosin receptor kinase (NTRK) fusion positive tumors: a historical cohort analysis

Author

Lemelle, Lauriane, primary, Guillemot, Delphine, additional, Hermann, Anne-Laure, additional, Gauthier, Arnaud, additional, Carton, Matthieu, additional, Corradini, Nadège, additional, Rome, Angélique, additional, Berlanga, Pablo, additional, Jourdain, Anne, additional, Marie Cardine, Aude, additional, Jannier, Sarah, additional, Boutroux, Hélène, additional, Defachelles, Anne Sophie, additional, Aerts, Isabelle, additional, Geoerger, Birgit, additional, Karanian, Marie, additional, Doz, François, additional, Brisse, Hervé J, additional, Schleiermacher, Gudrun, additional, Delattre, Olivier, additional, Pierron, Gaëlle, additional, and Orbach, Daniel, additional

Published
2023
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33. Comprehensive molecular profiling of sarcomas in adolescent and young adult patients

Author

Marie Morfouace, Peter Horak, Simon Kreutzfeldt, Aleksandra Stevovic, Teresa de Rojas, Evgeniya Denisova, Barbara Hutter, Francisco Bautista, Júlio Oliveira, Anne-Sophie Defachelles, Jeff White, Bernd Kasper, Matthias Preusser, Vassilis Golfinopoulos, Stefan Pfister, Winette Van der Graaf, Eva Wardelmann, Patrick Shenjere, Stefan Fröhling, Martin G. McCabe, and Medical Oncology

Subjects
Europe, Young Adult, Cancer Research, Adolescent, Oncology, SDG 3 - Good Health and Well-being, Exome Sequencing, Humans, Sarcoma, Soft Tissue Neoplasms, Prognosis
Abstract

Background: Adolescent and young adult (AYA) patients with cancer are poorly recruited to molecularly targeted trials and have not witnessed the advances in cancer treatment and survival seen in other age groups. We report here a pan-European proof-of-concept study to identify actionable alterations in some of the worst prognosis AYA cancers: bone and soft tissue sarcomas. Design: Patients aged 12–29 years with newly diagnosed or recurrent, intermediate or high-grade bone and soft tissue sarcomas were recruited from six European countries. Pathological diagnoses were centrally reviewed. Formalin-fixed tissues were analysed by whole exome sequencing, methylation profiling and RNA sequencing and were discussed in a multidisciplinary, international molecular tumour board. Results: Of 71 patients recruited, 48 (median 20 years, range 12–28) met eligibility criteria. Central pathological review confirmed, modified and re-classified the diagnosis in 41, 3, and 4 cases, respectively. Median turnaround time to discussion at molecular tumour board was 8.4 weeks. whole exome sequencing (n = 48), methylation profiling (n = 44, 85%) and RNA sequencing (n = 24, 50%) led to therapeutic recommendations for 81% patients, including 4 with germ line alterations. The most common were for agents targeted towards tyrosine kinases (n = 20 recommendations), DNA repair (n = 18) and the PI3K/mTOR/AKT pathway (n = 15). Recommendations were generally based on weak evidence such as activity in a different tumour type (n = 68, 61%), reflecting the dearth of relevant molecular clinical trial data in the same tumour type. Conclusions: We demonstrate here that comprehensive molecular profiling of AYA patients' samples is feasible and deliverable in a European programme.

Published
2023

34. Afatinib in paediatric patients with recurrent/refractory ErbB-dysregulated tumours: Results of a phase I/expansion trial

Author

Birgit Geoerger, Lynley V. Marshall, Karsten Nysom, Guy Makin, Eric Bouffet, Anne-Sophie Defachelles, Loredana Amoroso, Isabelle Aerts, Pierre Leblond, Paulette Barahona, Kim Van-Vlerken, Eric Fu, Flavio Solca, Robert M. Lorence, and David S. Ziegler

Subjects
Cancer Research, CLIP2 fusion [EGFR], Oncology, Pediatric cancer, EGFR, HER2, Afatinib
Abstract

AimThis phase I/expansion study assessed the safety, pharmacokinetics and preliminary antitumor activity of afatinib in paediatric patients with cancer.MethodsThe dose-finding part enroled patients (2–150); HER2 membrane staining (H-score>0). The primary end-points were dose-limiting toxicities (DLTs), afatinib exposure, and objective response.ResultsOf 564 patients pre-screened, 536 patients had biomarker data and 63 (12%) fulfilled ≥2 EGFR/HER2 criteria required for inclusion in the expansion part. A total of 56 patients were treated (17 in the dose-finding and 39 in the expansion part). DLTs were observed in one of six MTD-evaluable patients receiving 18 mg/m²/d and in two of five MTD-evaluable patients receiving 23 mg/m²/d; 18 mg/m²/d was defined as the MTD. There were no new safety signals. Pharmacokinetics confirmed exposure consistent with the approved dose in adults. One partial response (−81% per Response Assessment in Neuro-Oncology) was observed in a patient with a glioneuronal tumour harbouring a CLIP2::EGFR fusion; unconfirmed partial responses were observed in two patients. In total, 25% of patients experienced objective response or stable disease (95% confidence interval: 14–38).ConclusionTargetable EGFR/HER2 drivers are rare in paediatric cancers. Treatment with afatinib led to a durable response (>3 years) in one patient with a glioneuronal tumour with CLIP2::EGFR fusion.

Published
2023

36. Oral vinorelbine in young patients with desmoid-type fibromatosis

Author

Kornreich, Laure, primary, Orbach, Daniel, additional, Nicolas, Nayla, additional, Brisse, Hervé J, additional, Berlanga, Pablo, additional, Defachelles, Anne-Sophie, additional, Mansuy, Ludovic, additional, Verite, Cécile, additional, Saumet, Laure, additional, Karanian, Marie, additional, and Corradini, Nadège, additional

Published
2023
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38. Abstract CT088: Phase I/II study of the PARP inhibitor olaparib in combination with irinotecan in children with advanced malignancies: arm D of the AcSé-ESMART trial

Author

Gatz, Susanne A., primary, Berlanga, Pablo, additional, Archambaud, Baptiste, additional, Bouchoucha, Yassine, additional, André, Nicolas, additional, Corradini, Nadege, additional, Rondof, Windy, additional, Rubino, Jonathan, additional, Nebchi, Souad, additional, Marchais, Antonin, additional, Thebaud, Estelle, additional, Simón, Alba Rubio San, additional, van Eijkelenburg, Natasha K., additional, Marshall, Lynley V., additional, Defachelles, Anne-Sophie, additional, Canyete, Adela, additional, Ducassou, Stephane, additional, Makin, Guy, additional, Casanova, Michela, additional, De Carli, Emilie, additional, Petit, Arnaud, additional, Teuff, Gwenael Le, additional, Paoletti, Xavier, additional, Mortimer, Peter G., additional, Vassal, Gilles, additional, and Geoerger, Birgit, additional

Published
2023
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39. Abstract CT087: Phase I/II study of the WEE1 inhibitor adavosertib in combination with carboplatin in children with advanced malignancies: arm C of the AcSé-ESMART trial

Author

Gatz, Susanne A., primary, Harttrampf, Anne C., additional, Brard, Caroline, additional, Bautista, Francisco J., additional, André, Nicolas, additional, Abbou, Samuel, additional, Rubino, Jonathan, additional, Rondof, Windy, additional, Deloger, Marc, additional, Rübsam, Marc, additional, Hübschmann, Daniel, additional, Marshall, Lynley V., additional, Nebchi, Souad, additional, Aerts, Isabelle, additional, Thebaud, Estelle, additional, De Carli, Emilie, additional, Defachelles, Anne-Sophie, additional, Paoletti, Xavier, additional, Godin, Robert, additional, Miah, Kowser, additional, Mortimer, Peter G., additional, Vassal, Gilles, additional, and Geoerger, Birgit, additional

Published
2023
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40. Open-label, multicentre, randomised, phase II study of the EpSSG and the ITCC evaluating the addition of bevacizumab to chemotherapy in childhood and adolescent patients with metastatic soft tissue sarcoma (the BERNIE study)

Author

Chisholm, Julia C., Merks, Johannes H.M., Casanova, Michela, Bisogno, Gianni, Orbach, Daniel, Gentet, Jean-Claude, Thomassin-Defachelles, Anne-Sophie, Chastagner, Pascal, Lowis, Stephen, Ronghe, Milind, McHugh, Kieran, van Rijn, Rick R., Hilton, Magalie, Bachir, Jeanette, Fürst-Recktenwald, Sabine, Geoerger, Birgit, and Oberlin, Odile

Published
2017
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41. Phase II study of 131I‐metaiodobenzylguanidine with 5 days of topotecan for refractory or relapsed neuroblastoma: Results of the French study MIITOP.

Author

Sevrin, François, Kolesnikov‐Gauthier, Hélène, Cougnenc, Olivier, Bogart, Emilie, Schleiermacher, Gudrun, Courbon, Frederic, Gambart, Marion, Giraudet, Anne‐Laure, Corradini, Nadège, Badel, Jean‐Noël, Rault, Erwann, Oudoux, Aurore, Deley, Marie Cécile Le, Valteau‐Couanet, Dominique, and Defachelles, Anne‐Sophie

Published
2023
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43. Supplementary Figure 2 from Deep Sequencing Reveals Occurrence of Subclonal ALK Mutations in Neuroblastoma at Diagnosis

Author

Bellini, Angela, primary, Bernard, Virginie, primary, Leroy, Quentin, primary, Rio Frio, Thomas, primary, Pierron, Gaelle, primary, Combaret, Valérie, primary, Lapouble, Eve, primary, Clement, Nathalie, primary, Rubie, Herve, primary, Thebaud, Estelle, primary, Chastagner, Pascal, primary, Defachelles, Anne Sophie, primary, Bergeron, Christophe, primary, Buchbinder, Nimrod, primary, Taque, Sophie, primary, Auvrignon, Anne, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Janoueix-Lerosey, Isabelle, primary, Delattre, Olivier, primary, and Schleiermacher, Gudrun, primary

Published
2023
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44. supplemental figure legend from Deep Sequencing Reveals Occurrence of Subclonal ALK Mutations in Neuroblastoma at Diagnosis

Author

Bellini, Angela, primary, Bernard, Virginie, primary, Leroy, Quentin, primary, Rio Frio, Thomas, primary, Pierron, Gaelle, primary, Combaret, Valérie, primary, Lapouble, Eve, primary, Clement, Nathalie, primary, Rubie, Herve, primary, Thebaud, Estelle, primary, Chastagner, Pascal, primary, Defachelles, Anne Sophie, primary, Bergeron, Christophe, primary, Buchbinder, Nimrod, primary, Taque, Sophie, primary, Auvrignon, Anne, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Janoueix-Lerosey, Isabelle, primary, Delattre, Olivier, primary, and Schleiermacher, Gudrun, primary

Published
2023
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45. Supplemental Figure 4 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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46. Supplemental Patient Information from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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47. Supplemental Figure 3 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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48. Supplementary Figure Legends, Supplementary Figures 1-8, Supplementary References, Supplemental Information (1) on treatment protocols from Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma

Author

Chicard, Mathieu, primary, Colmet-Daage, Leo, primary, Clement, Nathalie, primary, Danzon, Adrien, primary, Bohec, Mylène, primary, Bernard, Virginie, primary, Baulande, Sylvain, primary, Bellini, Angela, primary, Deveau, Paul, primary, Pierron, Gaëlle, primary, Lapouble, Eve, primary, Janoueix-Lerosey, Isabelle, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Defachelles, Anne Sophie, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Combaret, Valérie, primary, Delattre, Olivier, primary, and Schleiermacher, Gudrun, primary

Published
2023
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49. Supplementary Table 2 from Deep Sequencing Reveals Occurrence of Subclonal ALK Mutations in Neuroblastoma at Diagnosis

Author

Bellini, Angela, primary, Bernard, Virginie, primary, Leroy, Quentin, primary, Rio Frio, Thomas, primary, Pierron, Gaelle, primary, Combaret, Valérie, primary, Lapouble, Eve, primary, Clement, Nathalie, primary, Rubie, Herve, primary, Thebaud, Estelle, primary, Chastagner, Pascal, primary, Defachelles, Anne Sophie, primary, Bergeron, Christophe, primary, Buchbinder, Nimrod, primary, Taque, Sophie, primary, Auvrignon, Anne, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Janoueix-Lerosey, Isabelle, primary, Delattre, Olivier, primary, and Schleiermacher, Gudrun, primary

Published
2023
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50. Supplementary Table 3 from Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma

Author

Chicard, Mathieu, primary, Colmet-Daage, Leo, primary, Clement, Nathalie, primary, Danzon, Adrien, primary, Bohec, Mylène, primary, Bernard, Virginie, primary, Baulande, Sylvain, primary, Bellini, Angela, primary, Deveau, Paul, primary, Pierron, Gaëlle, primary, Lapouble, Eve, primary, Janoueix-Lerosey, Isabelle, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Defachelles, Anne Sophie, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Combaret, Valérie, primary, Delattre, Olivier, primary, and Schleiermacher, Gudrun, primary

Published
2023
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