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1. Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients

Author

Droin-Mollard, Marion, de Montgolfier, Sandrine, Gimenez-Roqueplo, Anne-Paule, Flahault, Cécile, Petit, Arnaud, Bourdeaut, Franck, Julia, Sophie, Rial-Sebbag, Emmanuelle, Coupier, Isabelle, Simaga, Fatoumata, Brugières, Laurence, Guerrini-Rousseau, Léa, Claret, Béatrice, Cavé, Hélène, Strullu, Marion, Hervouet, Lucile, and Lahlou-Laforêt, Khadija

Published
2024
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2. Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.

Author

Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian, Alhopuro, Pia, Benusiglio, Patrick, Bourdeaut, Franck, Brecht, Ines, Del Baldo, Giada, Dhanda, Sandeep, Garrè, Maria, Gidding, Corrie, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan, Schroeder, Christopher, Smith, Miriam, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid, Evans, D, and Brugieres, Laurence

Subjects
central nervous system diseases, congenital, hereditary, and neonatal diseases and abnormalities, genetic counseling, genetic predisposition to disease, germ-line mutation
Abstract

BACKGROUND: Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome. METHODS: To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFU PV (89 patients) using the Nelson-Aalen estimator. RESULTS: Overall, 117/172 (68%) SUFU PV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFU gene and inherited in 73% of cases in which inheritance could be evaluated. CONCLUSION: Germline SUFU PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.

Published
2022

4. 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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5. 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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6. Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

Author

Helbling-Leclerc, Anne, Falampin, Marie, Heddar, Abdelkader, Guerrini-Rousseau, Léa, Marchand, Maud, Cavadias, Iphigenie, Auger, Nathalie, Bressac-de Paillerets, Brigitte, Brugieres, Laurence, Lopez, Bernard S., Polak, Michel, Rosselli, Filippo, and Misrahi, Micheline

Abstract

The use of next-generation sequencing (NGS) has recently enabled the discovery of genetic causes of primary ovarian insufficiency (POI) with high genetic heterogeneity. In contrast, the causes of diminished ovarian reserve (DOR) remain poorly understood. Here, we identified by NGS and whole exome sequencing (WES) the cause of isolated DOR in a 14-year-old patient. Two frameshift mutations in BRCA1 (NM_007294.4) were found: in exon 8 (c.470_471del; p.Ser157Ter) and in exon 11 (c.791_794del, p.Ser264MetfsTer33). Unexpectedly, the patient presented no signs of Fanconi anemia (FA), i.e., no developmental abnormalities or indications of bone marrow failure. However, high chromosomal fragility was found in the patient's cells, consistent with an FA diagnosis. RT-PCR and Western-blot analysis support the fact that the c. 791_794del BRCA1 allele is transcribed and translated into a shorter protein (del11q), while no expression of the full-length BRCA1 protein was found. DNA damage response (DDR) studies after genotoxic agents demonstrate normal activation of the early stages of the DDR and FANC/BRCA pathway. This is consistent with the maintenance of residual repair activity for the del11q BRCA1 isoform. Our observation is the first implication of bi-allelic BRCA1 mutations in isolated ovarian dysfunction or infertility in humans, without clinical signs of FA, and highlights the importance of BRCA1 in ovarian development and function. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.

Author

Thomson, Grégory, Filser, Mathilde, Guerrini-Rousseau, Léa, Tauziede-Espariat, Arnault, Bourneix, Christine, Gauthier-Villars, Marion, Simaga, Fatoumata, Beccaria, Kévin, Faure-Conter, Cécile, Maureille, Aurélien, Zattara-Cannoni, Hélène, Andre, Nicolas, Entz-Werle, Natacha, Brugieres, Laurence, Mansuy, Ludovic, Denizeau, Philippe, Julia, Sophie, Ingster, Olivier, Lejeune, Sophie, and Brahimi, Afane

Published
2024
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8. Medulloblastomas with ELP1 pathogenic variants: a weakly penetrant syndrome with a restricted spectrum in a limited age window

Author

Guerrini-Rousseau, Léa, primary, Masliah-Planchon, Julien, additional, Filser, Mathilde, additional, Tauziede-Espariat, Arnault, additional, Entz-Werle, Natacha, additional, Maugard, Christine, additional, Hopman, Saskia, additional, Torrejon, Jacob, additional, Gauthier-Villars, Marion, additional, Simaga, Fatoumata, additional, Blauwblomme, Thomas, additional, Beccaria, Kevin, additional, Rouleau, Etienne, additional, Dimaria, Marina, additional, Grill, Jacques, additional, Abbou, Samuel, additional, Claret, Béatrice, additional, Brugières, Laurence, additional, Doz, François, additional, Bouchoucha, Yassine, additional, Faure-Conter, Cécile, additional, Bonadona, Valerie, additional, Mansuy, Ludovic, additional, de Carli, Emilie, additional, Ingster, Olivier, additional, Legrand, Clémentine, additional, Pagnier, Anne, additional, Berthet, Pascaline, additional, Bodet, Damien, additional, Julia, Sophie, additional, Bertozzi, Anne-Isabelle, additional, Wilems, Marjolaine, additional, Maurage, Claude-Alain, additional, Delattre, Olivier, additional, Ayrault, Olivier, additional, Dufour, Christelle, additional, and Bourdeaut, Franck, additional

Published
2024
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9. Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

Author

Genetica, Genetica Oper.Mang. Clinical Genetics, Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Filser, Mathilde, Tauziède-Espariat, Arnault, Entz-Werle, Natacha, Maugard, Christine M., Hopman, Saskia M.J., Torrejon, Jacob, Gauthier-Villars, Marion, Simaga, Fatoumata, Blauwblomme, Thomas, Beccaria, Kevin, Rouleau, Etienne, Dimaria, Marina, Grill, Jacques, Abbou, Samuel, Claret, Béatrice, Brugières, Laurence, Doz, François, Bouchoucha, Yassine, Faure-Conter, Cécile, Bonadona, Valerie, Mansuy, Ludovic, De Carli, Emilie, Ingster, Olivier, Legrand, Clémentine, Pagnier, Anne, Berthet, Pascaline, Bodet, Damien, Julia, Sophie, Bertozzi, Anne Isabelle, Wilems, Marjolaine, Maurage, Claude Alain, Delattre, Olivier, Ayrault, Olivier, Dufour, Christelle, Bourdeaut, Franck, Genetica, Genetica Oper.Mang. Clinical Genetics, Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Filser, Mathilde, Tauziède-Espariat, Arnault, Entz-Werle, Natacha, Maugard, Christine M., Hopman, Saskia M.J., Torrejon, Jacob, Gauthier-Villars, Marion, Simaga, Fatoumata, Blauwblomme, Thomas, Beccaria, Kevin, Rouleau, Etienne, Dimaria, Marina, Grill, Jacques, Abbou, Samuel, Claret, Béatrice, Brugières, Laurence, Doz, François, Bouchoucha, Yassine, Faure-Conter, Cécile, Bonadona, Valerie, Mansuy, Ludovic, De Carli, Emilie, Ingster, Olivier, Legrand, Clémentine, Pagnier, Anne, Berthet, Pascaline, Bodet, Damien, Julia, Sophie, Bertozzi, Anne Isabelle, Wilems, Marjolaine, Maurage, Claude Alain, Delattre, Olivier, Ayrault, Olivier, Dufour, Christelle, and Bourdeaut, Franck

Published
2024

10. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency

Author

Guerrini-Rousseau, Léa, primary, Pasmant, Eric, additional, Muleris, Martine, additional, Abbou, Samuel, additional, Adam-De-Beaumais, Tiphaine, additional, Brugieres, Laurence, additional, Cabaret, Odile, additional, Colas, Chrystelle, additional, Cotteret, Sophie, additional, Decq, Philippe, additional, Dufour, Christelle, additional, Guillerm, Erell, additional, Rouleau, Etienne, additional, Varlet, Pascale, additional, Zili, Saïma, additional, Vidaud, Dominique, additional, and Grill, Jacques, additional

Published
2023
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11. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.

Author

Guerrini-Rousseau, Léa, Pasmant, Eric, Muleris, Martine, Abbou, Samuel, Adam-De-Beaumais, Tiphaine, Brugieres, Laurence, Cabaret, Odile, Colas, Chrystelle, Cotteret, Sophie, Decq, Philippe, Dufour, Christelle, Guillerm, Erell, Rouleau, Etienne, Varlet, Pascale, Zili, Saïma, Vidaud, Dominique, and Grill, Jacques

Abstract

Differential diagnosis between constitutional mismatch repair deficiency (CMMRD) and neurofibromatosis type 1 (NF1) is crucial as treatment and surveillance differ. We report the case of a girl with a clinical diagnosis of sporadic NF1 who developed a glioblastoma. Immunohistochemistry for MMR proteins identified PMS2 loss in tumour and normal cells and WES showed the tumour had an ultra-hypermutated phenotype, supporting the diagnosis of CMMRD. Germline analyses it identified two variants (one pathogenic variant and one classified as variant(s) of unknown significance) in the PMS2 gene and subsequent functional assays on blood lymphocytes confirmed the diagnosis of CMMRD. The large plexiform neurofibroma of the thigh and the freckling were however more compatible with NF1. Indeed, a NF1 PV (variant allele frequencies of 20%, 3% and 9% and in blood, skin and saliva samples, respectively) was identified confirming a mosaicism for NF1. Retrospective analysis of a French cohort identified NF1 mosaicism in blood DNA in 2 out of 22 patients with CMMRD, underlining the existence of early postzygotic PV of NF1 gene in patients with CMMRD whose tumours have been frequently reported to exhibit somatic NF1 mutations. It highlights the potential role of this pathway in the pathogenesis of CMMRD-associated gliomas and argues in favour of testing MEK inhibitors in this context. [ABSTRACT FROM AUTHOR]

Published
2024
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12. ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management

Author

Colas, Chrystelle, Guerrini-Rousseau, Léa, Suerink, Manon, Gallon, Richard, Kratz, Christian P., Ayuso, Éloïse, Brugières, Laurence, and Wimmer, Katharina

Abstract

Constitutional mismatch repair deficiency (CMMRD), first described 25 years ago, confers an extremely high and lifelong cancer risk, including haematologic, brain, and gastrointestinal tract malignancies, and is associated with several non-neoplastic features. Our understanding of this condition has improved and novel assays to assist CMMRD diagnosis have been developed. Surveillance protocols need adjustment taking into account recent observational prospective studies assessing their effectiveness. Response to immune checkpoint inhibitors and the effectiveness and toxicity of other treatments have been described. An update and merging of the different guidelines on diagnosis and clinical management of CMMRD into one comprehensive guideline was needed. Seventy-two expert members of the European Reference Network GENTURIS and/or the European care for CMMRD consortium and one patient representative developed recommendations for CMMRD diagnosis, genetic counselling, surveillance, quality of life, and clinical management based on a systematic literature search and comprehensive literature review and a modified Delphi process. Recommendations for the diagnosis of CMMRD provide testing criteria, propose strategies for CMMRD testing, and define CMMRD diagnostic criteria. Recommendations for surveillance cover each CMMRD-associated tumour type and contain information on starting age, frequency, and surveillance modality. Recommendations for clinical management cover cancer treatment, management of benign tumours or non-neoplastic features, and chemoprevention. Recommendations also address genetic counselling and quality of life. Based on existing guidelines and currently available data, we present 82 recommendations to improve and standardise the care of CMMRD patients in Europe. These recommendations are not meant to be prescriptive and may be adjusted based on individual decisions.

Published
2024
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13. Assessment of Puberty and Hypothalamic–Pituitary–Gonadal Axis Function After Childhood Brain Tumor Treatment

Author

Rosimont, Manon, primary, Kariyawasam, Dulanjalee, additional, Samara-Boustani, Dinane, additional, Giani, Elisa, additional, Beltrand, Jacques, additional, Bolle, Stephanie, additional, Fresneau, Brice, additional, Puget, Stephanie, additional, Sainte-Rose, Christian, additional, Alapetite, Claire, additional, Pinto, Graziella, additional, Touraine, Philippe, additional, Piketty, Marie-Liesse, additional, Brabant, Séverine, additional, Abbou, Samuel, additional, Aerts, Isabelle, additional, Beccaria, Kevin, additional, Bourgeois, Marie, additional, Roujeau, Thomas, additional, Blauwblomme, Thomas, additional, Rocco, Federico Di, additional, Thalassinos, Caroline, additional, Rigaud, Charlotte, additional, James, Syril, additional, Busiah, Kanetee, additional, Simon, Albane, additional, Bourdeaut, Franck, additional, Lemelle, Lauriane, additional, Guerrini-Rousseau, Léa, additional, Orbach, Daniel, additional, Doz, François, additional, Dufour, Christelle, additional, Grill, Jacques, additional, Polak, Michel, additional, and Briceño, Laura González, additional

Published
2023
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14. GH and Childhood-onset Craniopharyngioma: When to Initiate GH Replacement Therapy?

Author

Nguyen Quoc, Adrien, primary, Beccaria, Kévin, additional, González Briceño, Laura, additional, Pinto, Graziella, additional, Samara-Boustani, Dinane, additional, Stoupa, Athanasia, additional, Beltrand, Jacques, additional, Besançon, Alix, additional, Thalassinos, Caroline, additional, Puget, Stéphanie, additional, Blauwblomme, Thomas, additional, Alapetite, Claire, additional, Bolle, Stéphanie, additional, Doz, François, additional, Grill, Jacques, additional, Dufour, Christelle, additional, Bourdeaut, Franck, additional, Abbou, Samuel, additional, Guerrini-Rousseau, Léa, additional, Leruste, Amaury, additional, Brabant, Séverine, additional, Cavadias, Iphigénie, additional, Viaud, Magali, additional, Boddaert, Nathalie, additional, Polak, Michel, additional, and Kariyawasam, Dulanjalee, additional

Published
2023
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15. GH and Childhood-onset Craniopharyngioma: When to Initiate GH Replacement Therapy?

Author

Quoc, Adrien Nguyen, Beccaria, Kévin, Briceño, Laura González, Pinto, Graziella, Samara-Boustani, Dinane, Stoupa, Athanasia, Beltrand, Jacques, Besançon, Alix, Thalassinos, Caroline, Puget, Stéphanie, Blauwblomme, Thomas, Alapetite, Claire, Bolle, Stéphanie, Doz, François, Grill, Jacques, Dufour, Christelle, Bourdeaut, Franck, Abbou, Samuel, Guerrini-Rousseau, Léa, and Leruste, Amaury

Subjects
CRANIOPHARYNGIOMA, BENIGN tumors
Abstract

Context: Craniopharyngioma is a benign brain tumor with frequent local recurrence or progression after treatment. GH replacement therapy (GHRT) is prescribed in children with GH deficiency resulting from childhood-onset craniopharyngioma. Objective: To evaluate whether a shorter delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of a new event (progression or recurrence). Methods: Retrospective, observational, monocenter study. We compared a cohort of 71 childhood-onset patients with craniopharyngiomas treated with recombinant human GH (rhGH). Twenty-seven patients were treated with rhGH at least 12 months after craniopharyngioma treatment (>12-month group) and 44 patients before 12 months (<12-month group), among which 29 patients were treated between 6 and 12 months (6-12 month group). The main outcome was the risk of tumor new event (progression of residual tumor or tumor recurrence after complete resection) after primary treatment in the >12-month group and in the <12 month or in the 6- to 12-month group patients. Results: In the >12-month group, the 2- and 5-year event-free survivals were respectively 81.5% (95% CI, 61.1-91.9) and 69.4% (95% CI, 47.9- 83.4) compared with 72.2% (95% CI, 56.3-83.1) and 69.8% (95% CI, 53.8-81.2) in the <12-month group. The 2- and 5-year event-free survivals were the same in the 6- to 12-month group (72.4%; 95% CI, 52.4-85.1). By log-rank test, the event-free survival was not different between groups (P = .98 and P = .91). The median time for event was not statistically different. In univariate and multivariate analysis, the risk of craniopharyngioma new event was not associated with the GHRT time delay after craniopharyngioma treatment. Conclusions: No association was found between GHRT time delay after childhood-onset craniopharyngioma treatment and an increased risk of recurrence or tumor progression, suggesting GH replacement therapy can be initiated 6 months after last treatment for craniopharyngiomas. [ABSTRACT FROM AUTHOR]

Published
2023
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16. Cancer risk and tumour spectrum in 172 patients with a germlineSUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Author

Guerrini-Rousseau, Léa, primary, Masliah-Planchon, Julien, additional, Waszak, Sebastian M, additional, Alhopuro, Pia, additional, Benusiglio, Patrick R, additional, Bourdeaut, Franck, additional, Brecht, Ines B, additional, Del Baldo, Giada, additional, Dhanda, Sandeep Kumar, additional, Garrè, Maria Luisa, additional, Gidding, Corrie E M, additional, Hirsch, Steffen, additional, Hoarau, Pauline, additional, Jorgensen, Mette, additional, Kratz, Christian, additional, Lafay-Cousin, Lucie, additional, Mastronuzzi, Angela, additional, Pastorino, Lorenza, additional, Pfister, Stefan M, additional, Schroeder, Christopher, additional, Smith, Miriam Jane, additional, Vahteristo, Pia, additional, Vibert, Roseline, additional, Vilain, Catheline, additional, Waespe, Nicolas, additional, Winship, Ingrid M, additional, Evans, D Gareth, additional, and Brugieres, Laurence, additional

Published
2022
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17. MEDB-84. The French experience of ELP1-related medulloblastomas

Author

Tauziède-Espariat, Arnault, primary, Guerrini-Rousseau, Léa, additional, Perrier, Alexandre, additional, Torrejon, Jacob, additional, Bernardi, Flavia, additional, Filser, Mathilde, additional, Varlet, Pascale, additional, De Carli, Emilie, additional, Pagnier, Anne, additional, Leblond, Pierre, additional, Faure-Conter, Cécile, additional, Doz, Francois, additional, Bertozzi, Anne-Isabelle, additional, Mansuy, Ludovic, additional, Willems, Marjolaine, additional, Palenzuela, Gilles, additional, Entz-Werle, Natacha, additional, Bourneix, Christine, additional, Hasty, Lauren, additional, Delattre, Olivier, additional, Blauwblomme, Thomas, additional, Beccaria, Kevin, additional, Metais, Alice, additional, Ayrault, Olivier, additional, Chrétien, Fabrice, additional, Bourdeaut, Franck, additional, Dufour, Christelle, additional, and Masliah-Planchon, Julien, additional

Published
2022
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18. High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort

Author

González Briceño, Laura Gabriela, primary, Kariyawasam, Dulanjalee, additional, Samara-Boustani, Dinane, additional, Giani, Elisa, additional, Beltrand, Jacques, additional, Bolle, Stéphanie, additional, Fresneau, Brice, additional, Puget, Stéphanie, additional, Sainte-Rose, Christian, additional, Alapetite, Claire, additional, Pinto, Graziella, additional, Piketty, Marie-Liesse, additional, Brabant, Séverine, additional, Abbou, Samuel, additional, Aerts, Isabelle, additional, Beccaria, Kevin, additional, Bourgeois, Marie, additional, Roujeau, Thomas, additional, Blauwblomme, Thomas, additional, Di Rocco, Federico, additional, Thalassinos, Caroline, additional, Pauwels, Christian, additional, Rigaud, Charlotte, additional, James, Syril, additional, Busiah, Kanetee, additional, Simon, Albane, additional, Bourdeaut, Franck, additional, Lemelle, Lauriane, additional, Guerrini-Rousseau, Léa, additional, Orbach, Daniel, additional, Touraine, Philippe, additional, Doz, François, additional, Dufour, Christelle, additional, Grill, Jacques, additional, and Polak, Michel, additional

Published
2021
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19. EPCO-03. GLIOMA ONCOGENESIS IN THE CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY (CMMRD) SYNDROME

Author

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

Published
2021
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20. Additional file 16 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 16. Copy number variation profile of case #12.

Published
2021
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21. Additional file 8 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 8. Copy number variation profile of case #4.

Published
2021
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22. Additional file 7 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 7. Copy number variation profile of case #3.

Published
2021
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23. Additional file 6 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 6. Copy number variation profile of case #2.

Published
2021
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24. Additional file 5 of Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Saffroy, Raphaël, Hasty, Lauren, Wahler, Ellen, Pagès, Mélanie, Andreiuolo, Felipe, Lechapt, Emmanuèle, Chrétien, Fabrice, Blauwblomme, Thomas, Beccaria, Kévin, Pallud, Johan, Puget, Stéphanie, Uro-Coste, Emmanuelle, and Varlet, Pascale

Abstract

Additional file 5. Copy number variation profile of case #1.

Published
2021
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25. Clinical and molecular analysis of smoothened inhibitors in Sonic Hedgehog medulloblastoma

Author

Pereira, Victor, primary, Torrejon, Jacob, additional, Kariyawasam, Dulanjalee, additional, Berlanga, Pablo, additional, Guerrini-Rousseau, Léa, additional, Ayrault, Olivier, additional, Varlet, Pascale, additional, Tauziède-Espariat, Arnault, additional, Puget, Stéphanie, additional, Bolle, Stéphanie, additional, Beccaria, Kevin, additional, Blauwblomme, Thomas, additional, Brugières, Laurence, additional, Grill, Jacques, additional, Geoerger, Birgit, additional, Dufour, Christelle, additional, and Abbou, Samuel, additional

Published
2021
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26. Prognostic relevance of clinical and molecular risk factors in children with high-risk medulloblastoma treated in the phase II trial PNET HR+5

Author

Dufour, Christelle, primary, Foulon, Stephanie, additional, Geoffray, Anne, additional, Masliah-Planchon, Julien, additional, Figarella-Branger, Dominique, additional, Bernier-Chastagner, Valerie, additional, Padovani, Laetitia, additional, Guerrini-Rousseau, Léa, additional, Faure-Conter, Cecile, additional, Icher, Celine, additional, Bertozzi, Anne-Isabelle, additional, Leblond, Pierre, additional, Akbaraly, Tasnime, additional, Bourdeaut, Franck, additional, André, Nicolas, additional, Chappé, Celine, additional, Schneider, Pascale, additional, De Carli, Emilie, additional, Chastagner, Pascal, additional, Berger, Claire, additional, Lejeune, Julien, additional, Soler, Christine, additional, Entz-Werlé, Natacha, additional, and Delisle, Marie-Bernadette, additional

Published
2020
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27. Prognostic Clinical and Biologic Features for Overall Survival after Relapse in Childhood Medulloblastoma

Author

Huybrechts, Sophie, primary, Le Teuff, Gwénaël, additional, Tauziède-Espariat, Arnault, additional, Rossoni, Caroline, additional, Chivet, Anaïs, additional, Indersie, Émilie, additional, Varlet, Pascale, additional, Puget, Stéphanie, additional, Abbas, Rachid, additional, Ayrault, Olivier, additional, Guerrini-Rousseau, Léa, additional, Grill, Jacques, additional, Valteau-Couanet, Dominique, additional, and Dufour, Christelle, additional

Published
2020
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28. MBCL-02. ROLE OF PREOPERATIVE CHEMOTHERAPY IN METASTATIC MEDULLOBLASTOMA: A COMPARATIVE STUDY IN 92 CHILDREN

Author

Guerrini-Rousseau, Léa, primary, Abbas, Rachid, additional, Huybrechts, Sophie, additional, Kieffer-Renaux, Virginie, additional, Puget, Stéphanie, additional, Andreiuolo, Felipe, additional, Beccaria, Kevin, additional, Blauwblomme, Thomas, additional, Bolle, Stéphanie, additional, Dhermain, Frédéric, additional, Longaud, Audrey, additional, Roujeau, Thomas, additional, Rose, Christian Sainte, additional, Tauziede-Esperiat, Arnaud, additional, Varlet, Pascale, additional, Zerah, Michel, additional, Valteau-Couanet, Dominique, additional, Dufour, Christelle, additional, and Jacques, Grill, additional

Published
2020
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29. RARE-21. CANCER SPECTRUM IN GERMLINE SUFU MUTATION CARRIERS: A COLLABORATIVE PROJECT OF THE SIOPE HOST GENOME WORKING GROUP

Author

Guerrini-Rousseau, Léa, primary, Waszak, Sebastian, additional, Bourdeaut, Franck, additional, Delattre, Olivier, additional, Dikow, Nicola, additional, Dufour, Christelle, additional, Gajjar, Amar, additional, Grill, Jacques, additional, Hirsch, Steffen, additional, Hopman, Saskia, additional, Jones, David, additional, Jongmans, Majoline, additional, Korshunov, Andrey, additional, Kratz, Christian, additional, Lafay-Cousin, Lucie, additional, Masliah, Julien, additional, Milde, Till, additional, Northcott, Paul, additional, Pajtler, Kristian, additional, Pfister, Stefan, additional, Puget, Stéphanie, additional, Collonge, Marie Agnès Rame, additional, Robinson, Giles, additional, Sariban, Eric, additional, Sevenet, Nicolas, additional, Smith, Miriam, additional, Sturm, Dominik, additional, Zattara, Hélène, additional, Varlet, Pascale, additional, Evans, Gareth, additional, and Brugières, Laurence, additional

Published
2020
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30. Role of neoadjuvant chemotherapy in metastatic medulloblastoma: a comparative study in 92 children

Author

Guerrini-Rousseau, Léa, primary, Abbas, Rachid, additional, Huybrechts, Sophie, additional, Kieffer-Renaux, Virginie, additional, Puget, Stéphanie, additional, Andreiuolo, Felipe, additional, Beccaria, Kévin, additional, Blauwblomme, Thomas, additional, Bolle, Stéphanie, additional, Dhermain, Frédéric, additional, Longaud Valès, Audrey, additional, Roujeau, Thomas, additional, Sainte-Rose, Christian, additional, Tauziede-Espariat, Arnault, additional, Varlet, Pascale, additional, Zerah, Michel, additional, Valteau-Couanet, Dominique, additional, Dufour, Christelle, additional, and Grill, Jacques, additional

Published
2020
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31. Constitutional mismatch repair deficiency-associated brain tumors: Report from the European C4CMMRD consortium

Author

Guerrini-Rousseau, Léa, Varlet, Pascale, Colas, Chrystelle, Andreiuolo, Felipe, Bourdeaut, Franck, Dahan, Karin, Devalck, Christine, Faure-Conter, Cécile, Genuardi, Maurizio, Goldberg, Yael, Kuhlen, Michaela, Moalla, Salma, Opocher, Enrico, Perez-Alonso, Vanessa, Sehested, Astrid, Slavc, Irene, Unger, Sheila, Wimmer, Katharina, Grill, Jacques, Brugières, Laurence, Guerrini-Rousseau, Léa, Varlet, Pascale, Colas, Chrystelle, Andreiuolo, Felipe, Bourdeaut, Franck, Dahan, Karin, Devalck, Christine, Faure-Conter, Cécile, Genuardi, Maurizio, Goldberg, Yael, Kuhlen, Michaela, Moalla, Salma, Opocher, Enrico, Perez-Alonso, Vanessa, Sehested, Astrid, Slavc, Irene, Unger, Sheila, Wimmer, Katharina, Grill, Jacques, and Brugières, Laurence

Abstract

Background: Malignant brain tumors (BT) are among the cancers most frequently associated with constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations in mismatch repair genes. This study analyzed data from the European "Care for CMMRD"(C4CMMRD) database to describe their clinical characteristics, treatments, and outcome with the aim of improving its diagnosis/treatment. Methods: Retrospective analysis of data on patients with CMMRD and malignant BT from the C4CMMRD database up to July 2017. Results: Among the 87 registered patients, 49 developed 56 malignant BTs: 50 high-grade gliomas (HGG) (with giant multinucleated cells in 16/21 histologically reviewed tumors) and 6 embryonal tumors. The median age at first BT was 9.2 years [1.1-40.6], with nine patients older than 18. Twenty-seven patients developed multiple malignancies (including16 before the BT). Most patients received standard treatment, and eight patients immunotherapy for relapsed HGG. The 3- and 5-year overall survival (OS) rates were 30% (95% CI: 19-45) and 22% (95% CI: 12-37) after the first BT, with worse prognosis for HGG (3-year OS = 20.5%). Six patients were alive (median follow-up 2.5 years) and 43 dead (38 deaths, 88%, were BT-related). Other CMMRD-specific features were café-au-lait macules (40/41), multiple BTs (5/15), developmental brain anomalies (11/15), and consanguinity (20/38 families). Conclusions: Several characteristics could help suspecting CMMRD in pediatric malignant BTs: giant cells on histology, previous malignancies, parental consanguinity, café-au-lait macules, multiple BTs, and developmental brain anomalies. The prognosis of CMMRD-associated BT treated with standard therapies is poor requiring new therapeutic up-front approaches., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

32. High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort

Author

González Briceño, Laura Gabriela, Kariyawasam, Dulanjalee, Samara-Boustani, Dinane, Giani, Elisa, Beltrand, Jacques, Bolle, Stéphanie, Fresneau, Brice, Puget, Stéphanie, Sainte-Rose, Christian, Alapetite, Claire, Pinto, Graziella, Piketty, Marie-Liesse, Brabant, Séverine, Abbou, Samuel, Aerts, Isabelle, Beccaria, Kevin, Bourgeois, Marie, Roujeau, Thomas, Blauwblomme, Thomas, Di Rocco, Federico, Thalassinos, Caroline, Pauwels, Christian, Rigaud, Charlotte, James, Syril, Busiah, Kanetee, Simon, Albane, Bourdeaut, Franck, Lemelle, Lauriane, Guerrini-Rousseau, Léa, Orbach, Daniel, Touraine, Philippe, Doz, François, Dufour, Christelle, Grill, Jacques, and Polak, Michel

Published
2022
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33. Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions.

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Nicaise, Yvan, Kergrohen, Thomas, Sievers, Philipp, Vasiljevic, Alexandre, Roux, Alexandre, Dezamis, Edouard, Benevello, Chiara, Machet, Marie-Christine, Michalak, Sophie, Puiseux, Chloe, Llamas-Gutierrez, Francisco, Leblond, Pierre, Bourdeaut, Franck, Grill, Jacques, Dufour, Christelle, Guerrini-Rousseau, Léa, Abbou, Samuel, and Dangouloff-Ros, Volodia

Subjects
PHENOTYPES, ZINC-finger proteins, GENOTYPES, FLUORESCENCE in situ hybridization, CHIMERIC proteins, DNA fingerprinting
Abstract

The cIMPACT-NOW Update 7 has replaced the WHO nosology of "ependymoma, RELA fusion positive" by "Supratentorial-ependymoma, C11orf95-fusion positive". This modification reinforces the idea that supratentorial-ependymomas exhibiting fusion that implicates the C11orf95 (now called ZFTA) gene with or without the RELA gene, represent the same histomolecular entity. A hot off the press molecular study has identified distinct clusters of the DNA methylation class of ZFTA fusion-positive tumors. Interestingly, clusters 2 and 4 comprised tumors of different morphologies, with various ZFTA fusions without involvement of RELA. In this paper, we present a detailed series of thirteen cases of non-RELA ZFTA-fused supratentorial tumors with extensive clinical, radiological, histopathological, immunohistochemical, genetic and epigenetic (DNA methylation profiling) characterization. Contrary to the age of onset and MRI aspects similar to RELA fusion-positive EPN, we noted significant histopathological heterogeneity (pleomorphic xanthoastrocytoma-like, astroblastoma-like, ependymoma-like, and even sarcoma-like patterns) in this cohort. Immunophenotypically, these NFκB immunonegative tumors expressed GFAP variably, but EMA constantly and L1CAM frequently. Different gene partners were fused with ZFTA: NCOA1/2, MAML2 and for the first time MN1. These tumors had epigenetic homologies within the DNA methylation class of ependymomas-RELA and were classified as satellite clusters 2 and 4. Cluster 2 (n = 9) corresponded to tumors with classic ependymal histological features (n = 4) but also had astroblastic features (n = 5). Various types of ZFTA fusions were associated with cluster 2, but as in the original report, ZFTA:MAML2 fusion was frequent. Cluster 4 was enriched with sarcoma-like tumors. Moreover, we reported a novel anatomy of three ZFTA:NCOA1/2 fusions with only 1 ZFTA zinc finger domain in the putative fusion protein, whereas all previously reported non-RELA ZFTA fusions have 4 ZFTA zinc fingers. All three cases presented a sarcoma-like morphology. This genotype/phenotype association requires further studies for confirmation. Our series is the first to extensively characterize this new subset of supratentorial ZFTA-fused ependymomas and highlights the usefulness of ZFTA FISH analysis to confirm the existence of a rearrangement without RELA abnormality. [ABSTRACT FROM AUTHOR]

Published
2021
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34. Prognostic relevance of clinical and molecular risk factors in children with high-risk medulloblastoma treated in the phase II trial PNET HR+5.

Author

Dufour, Christelle, Foulon, Stephanie, Geoffray, Anne, Masliah-Planchon, Julien, Figarella-Branger, Dominique, Bernier-Chastagner, Valerie, Padovani, Laetitia, Guerrini-Rousseau, Léa, Faure-Conter, Cecile, Icher, Celine, Bertozzi, Anne-Isabelle, Leblond, Pierre, Akbaraly, Tasnime, Bourdeaut, Franck, André, Nicolas, Chappé, Celine, Schneider, Pascale, Carli, Emilie De, Chastagner, Pascal, and Berger, Claire

Published
2021
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35. NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation

Author

Lobón-Iglesias, María Jesús, primary, Laurendeau, Ingrid, primary, Guerrini-Rousseau, Léa, primary, Tauziède-Espariat, Arnault, primary, Briand-Suleau, Audrey, primary, Varlet, Pascale, primary, Vidaud, Dominique, primary, Vidaud, Michel, primary, Brugieres, Laurence, primary, Grill, Jacques, primary, and Pasmant, Eric, primary

Published
2019
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36. Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas

Author

Surun, Aurore, primary, Varlet, Pascale, additional, Brugières, Laurence, additional, Lacour, Brigitte, additional, Faure-Conter, Cécile, additional, Leblond, Pierre, additional, Bertozzi-Salomon, Anne-Isabelle, additional, Berger, Claire, additional, André, Nicolas, additional, Sariban, Eric, additional, Raimbault, Sandra, additional, Prieur, Fabienne, additional, Desseigne, Françoise, additional, Zattara, Hélène, additional, Guimbaud, Rosine, additional, Polivka, Marc, additional, Delisle, Marie-Bernadette, additional, Vasiljevic, Alexandre, additional, Maurage, Claude-Alain, additional, Figarella-Branger, Dominique, additional, Coulet, Florence, additional, Guerrini-Rousseau, Léa, additional, Alapetite, Claire, additional, Dufour, Christelle, additional, Colas, Chrystelle, additional, Doz, François, additional, and Bourdeaut, Franck, additional

Published
2019
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37. Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium

Author

Guerrini-Rousseau, Léa, primary, Varlet, Pascale, primary, Colas, Chrystelle, primary, Andreiuolo, Felipe, primary, Bourdeaut, Franck, primary, Dahan, Karin, primary, Devalck, Christine, primary, Faure-Conter, Cécile, primary, Genuardi, Maurizio, primary, Goldberg, Yael, primary, Kuhlen, Michaela, primary, Moalla, Salma, primary, Opocher, Enrico, primary, Perez-Alonso, Vanessa, primary, Sehested, Astrid, primary, Slavc, Irene, primary, Unger, Sheila, primary, Wimmer, Katharina, primary, Grill, Jacques, primary, and Brugières, Laurence, primary

Published
2019
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38. Cancer risk and tumour spectrum in 172 patients with a germline SUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Author

Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M, Evans, D Gareth, and Brugieres, Laurence

Abstract

BackgroundLittle is known about risks associated with germline SUFUpathogenic variants (PVs) known as a cancer predisposition syndrome.MethodsTo study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFUPV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFUPV (89 patients) using the Nelson-Aalen estimator.ResultsOverall, 117/172 (68%) SUFUPV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFUgene and inherited in 73% of cases in which inheritance could be evaluated.ConclusionGermline SUFUPV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.

Published
2022
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39. Germline SUFU mutation carriers and medulloblastoma: Clinical characteristics, cancer risk, and prognosis

Author

Guerrini-Rousseau, Léa, Dufour, Christelle, Varlet, Pascale, Masliah-Planchon, Julien, Bourdeaut, Franck, Guillaud-Bataille, Marine, Abbas, Rachid, Bertozzi, Anne Isabelle, Fouyssac, Fanny, Huybrechts, Sophie, Puget, Stéphanie, Bressac-De Paillerets, Brigitte, Caron, Olivier, Sevenet, Nicolas, Dimaria, Marina, Villebasse, Sophie, Delattre, Olivier, Valteau-Couanet, Dominique, Grill, Jacques, Brugières, Laurence, Guerrini-Rousseau, Léa, Dufour, Christelle, Varlet, Pascale, Masliah-Planchon, Julien, Bourdeaut, Franck, Guillaud-Bataille, Marine, Abbas, Rachid, Bertozzi, Anne Isabelle, Fouyssac, Fanny, Huybrechts, Sophie, Puget, Stéphanie, Bressac-De Paillerets, Brigitte, Caron, Olivier, Sevenet, Nicolas, Dimaria, Marina, Villebasse, Sophie, Delattre, Olivier, Valteau-Couanet, Dominique, Grill, Jacques, and Brugières, Laurence

Abstract

Background Germline mutations of suppressor of fused homolog (SUFU) predispose to sonic hedgehog (SHH) medulloblastoma. Germline SUFU mutations have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum. Methods We performed a retrospective review of all patients with medulloblastoma and a germline SUFU mutation in France. Results Twenty-two patients from 17 families were identified with medulloblastoma and a germline SUFU mutation (median age at diagnosis: 16.5 mo). Macrocrania was present in 20 patients, but only 5 met the diagnostic criteria for NBCCS. Despite treatment with surgery and chemotherapy, to avoid radiotherapy in all patients except one, the outcome was worse than expected for SHH medulloblastoma, due to the high incidence of local relapses (8/22 patients) and second malignancies (n = 6 in 4/22 patients). The 5-year progression-free survival and overall survival rates were 42% and 66%. Mutations were inherited in 79% of patients, and 34 additional SUFU mutation carriers were identified within 14 families. Medulloblastoma penetrance was incomplete, but higher than in Patched 1 (PTCH1) mutation carriers. Besides medulloblastoma, 19 other tumors were recorded among the 56 SUFU mutation carriers, including basal cell carcinoma (BCC) in 2 patients and meningioma in 3 patients. Conclusion Germline SUFU mutations strongly predispose to medulloblastoma in the first years of life, with worse prognosis than usually observed for SHH medulloblastoma. The clinical spectrum differs between SUFU and PTCH1 mutation carriers, and BCC incidence is much lower in SUFU mutation carriers. The optimal treatment of SUFU mutation-associated medulloblastoma has not been defined., SCOPUS: re.j, info:eu-repo/semantics/published

Published
2018

40. MBCL-43 pronostic factors for overall survival after recurrence in childhood medulloblastoma

Author

Huybrechts, Sophie, Chivet, Anaïs, Leys, Christophe, Varlet, Pascale, Tauziede-Espariat, Arnault, Puget, Stéphanie, Guerrini-Rousseau, Léa, Grill, Jacques, Dufour, Christelle, Huybrechts, Sophie, Chivet, Anaïs, Leys, Christophe, Varlet, Pascale, Tauziede-Espariat, Arnault, Puget, Stéphanie, Guerrini-Rousseau, Léa, Grill, Jacques, and Dufour, Christelle

Abstract

info:eu-repo/semantics/published

Published
2018

41. MBCL-38. MEDULLOBLASTOMAS ASSOCIATED WITH APC GERMLINE MUTATION: A MULTICENTRIC FRENCH AND BELGIAN REVIEW

Author

Surun, Aurore, primary, Brugières, Laurence, additional, Guerrini-Rousseau, Léa, additional, Varlet, Pascale, additional, Lacour, Brigitte, additional, Faure-Conter, Cécile, additional, Leblond, Pierre, additional, Bertozzi-Salomon, Anne-Isabelle, additional, Berger, Claire, additional, Andre, Nicolas, additional, Sariban, Eric, additional, Prieur, Fabienne, additional, Desseigne, Françoise, additional, Zattara-Cannoni, Hélène, additional, Polivka, Marc, additional, Delisle, Marie-Bernadette, additional, Vasiljevic, Alexandre, additional, Colas, Chrystelle, additional, Doz, François, additional, and Bourdeaut, Franck, additional

Published
2018
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44. EPID-09. CMMRD (CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY) ASSOCIATED-BRAIN TUMORS: REPORT FROM THE EUROPEAN C4CMMRD CONSORTIUM

Author

Guerrini-Rousseau, Léa, primary, Colas, Chrystelle, additional, Wimmer, Katharina, additional, Devalck, Christine, additional, Opocher, Enrico, additional, Bourdeaut, Franck, additional, Andreiuolo, Felipe, additional, Dahan, Karin, additional, Genuardi, Maurizio, additional, Goldberg, Yael, additional, Kuhlen, Michaela, additional, Alonso, Vanesa Pérez, additional, Sehested, Astrid-Marie, additional, Slavc, Irene, additional, Unger, Sheila, additional, Varlet, Pascale, additional, Grill, Jacques, additional, and Brugières, Laurence, additional

Published
2018
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45. Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

Author

Guerrini-Rousseau, Léa, primary, Dufour, Christelle, additional, Varlet, Pascale, additional, Masliah-Planchon, Julien, additional, Bourdeaut, Franck, additional, Guillaud-Bataille, Marine, additional, Abbas, Rachid, additional, Bertozzi, Anne-Isabelle, additional, Fouyssac, Fanny, additional, Huybrechts, Sophie, additional, Puget, Stéphanie, additional, Bressac-De Paillerets, Brigitte, additional, Caron, Olivier, additional, Sevenet, Nicolas, additional, Dimaria, Marina, additional, Villebasse, Sophie, additional, Delattre, Olivier, additional, Valteau-Couanet, Dominique, additional, Grill, Jacques, additional, and Brugières, Laurence, additional

Published
2017
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46. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

Author

Renaux-Petel, Mariette, primary, Charbonnier, Françoise, additional, Théry, Jean-Christophe, additional, Fermey, Pierre, additional, Lienard, Gwendoline, additional, Bou, Jacqueline, additional, Coutant, Sophie, additional, Vezain, Myriam, additional, Kasper, Edwige, additional, Fourneaux, Steeve, additional, Manase, Sandrine, additional, Blanluet, Maud, additional, Leheup, Bruno, additional, Mansuy, Ludovic, additional, Champigneulle, Jacqueline, additional, Chappé, Céline, additional, Longy, Michel, additional, Sévenet, Nicolas, additional, Paillerets, Brigitte Bressac-de, additional, Guerrini-Rousseau, Léa, additional, Brugières, Laurence, additional, Caron, Olivier, additional, Sabourin, Jean-Christophe, additional, Tournier, Isabelle, additional, Baert-Desurmont, Stéphanie, additional, Frébourg, Thierry, additional, and Bougeard, Gaëlle, additional

Published
2017
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47. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Author

Renaux-Petel, Mariette, Charbonnier, Françoise, Théry, Jean-Christophe, Fermey, Pierre, Lienard, Gwendoline, Bou, Jacqueline, Coutant, Sophie, Vezain, Myriam, Kasper, Edwige, Fourneaux, Steeve, Manase, Sandrine, Blanluet, Maud, Leheup, Bruno, Mansuy, Ludovic, Champigneulle, Jacqueline, Chappé, Céline, Longy, Michel, Sévenet, Nicolas, Bressac-de Paillerets, Brigitte, and Guerrini-Rousseau, Léa

Abstract

Background: Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial history, highly suggestive of a germline TP53 mutation. The aim of this study was to determine the contribution of de novo and mosaic mutations to LFS. Methods and results: A mong 328 unrelated patients harbouring a germline TP53 mutation identified by Sanger sequencing and/or QMPSF, we could show that the mutations had occurred de novo in 40 cases, without detectable parental age effect. Sanger sequencing revealed two mosaic mutations in a child with ACC and in an unaffected father of a child with medulloblastoma. Re-analysis of blood DNA by next-generation sequencing, performed at a depth above 500X, from 108 patients suggestive of LFS without detectable TP53 mutations, allowed us to identify 6 additional cases of mosaic TP53 mutations, in 2/49 children with ACC, 2/21 children with CPT, in 1/31 women with breast cancer before age 31 and in a patient who developed an osteosarcoma at age 12, a breast carcinoma and a breast sarcoma at age 35. Conclusions: This study performed on a large series of TP53 mutation carriers allows estimating the contribution to LFS of de novo mutations to at least 14% (48/336) and suggests that approximately onefifth of these de novo mutations occur during embryonic development. Considering the medical impact of TP53 mutation identification, medical laboratories in charge of TP53 testing should ensure the detection of mosaic mutations. [ABSTRACT FROM AUTHOR]

Published
2018
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48. Preclinical evaluation of dasatinib alone and in combination with cabozantinib for the treatment of diffuse intrinsic pontine glioma

Author

Truffaux, Nathalène, primary, Philippe, Cathy, additional, Paulsson, Janna, additional, Andreiuolo, Felipe, additional, Guerrini-Rousseau, Léa, additional, Cornilleau, Gaétan, additional, Le Dret, Ludivine, additional, Richon, Catherine, additional, Lacroix, Ludovic, additional, Puget, Stéphanie, additional, Geoerger, Birgit, additional, Vassal, Gilles, additional, Östman, Arne, additional, and Grill, Jacques, additional

Published
2014
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50. Prognostic Clinical and Biologic Features for Overall Survival after Relapse in Childhood Medulloblastoma.

Author

Huybrechts, Sophie, Le Teuff, Gwénaël, Tauziède-Espariat, Arnault, Rossoni, Caroline, Chivet, Anaïs, Indersie, Émilie, Varlet, Pascale, Puget, Stéphanie, Abbas, Rachid, Ayrault, Olivier, Guerrini-Rousseau, Léa, Grill, Jacques, Valteau-Couanet, Dominique, and Dufour, Christelle

Subjects
SURVIVAL, CONFIDENCE intervals, GLIOMAS, CANCER relapse, RETROSPECTIVE studies, TUMORS in children, DESCRIPTIVE statistics, CHILDREN
Abstract

Simple Summary: Despite progress in the biology and upfront treatment of childhood medulloblastoma, relapse is almost universally fatal. No standardized treatment has so far been established for these patients. By determining which characteristics are prognostic after relapse, treatment strategies may be optimized for each of these children. We demonstrated that molecular subgroup at diagnosis is a relevant prognostic factor of outcome after relapse. Moreover, we showed that time to relapse and the use of salvage radiotherapy at relapse might have a potential impact on post-relapse survival. Our data suggest that ongoing efforts toward a better understanding of the biology, timing and type of relapse would be important to understand the determinants of tumor behavior at relapse. This could help us address more specific questions on the best surveillance strategies after completion of the treatment and the introduction of risk-stratified second-line treatment strategies. Given the very poor prognosis for children with recurrent medulloblastoma, we aimed to identify prognostic factors for survival post-relapse in children with childhood medulloblastoma. We retrospectively collected clinico-biological data at diagnosis and main clinical characteristics at relapse of children newly diagnosed with a medulloblastoma between 2007 and 2017 at Gustave Roussy and Necker Hospital. At a median follow-up of 6.6 years (range, 0.4–12.3 years), relapse occurred in 48 out 155 patients (31%). The median time from diagnosis to relapse was 14.3 months (range, 1.2–87.2 months). Relapse was local in 9, metastatic in 22 and combined (local and metastatic) in 17 patients. Second-line treatment consisted of chemotherapy in 31 cases, radiotherapy in 9, SHH-inhibitor in four and no treatment in the remaining four. The 1-year overall survival rate post-relapse was 44.8% (CI 95%, 31.5% to 59.0%). While molecular subgrouping at diagnosis was significantly associated with survival post-relapse, the use of radiotherapy at relapse and time to first relapse (>12 months) might also have a potential impact on post-relapse survival. [ABSTRACT FROM AUTHOR]

Published
2021
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