Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022

Authors: Jette J. Bakhuizen, Franck Bourdeaut, Karin A.W. Wadt, Christian P. Kratz, Marjolijn C.J. Jongmans, Nicolas Waespe

Source: EJC Paediatric Oncology, Vol 4, Iss , Pp 100176- (2024)

Subject Terms: Pediatric cancer, Cancer screening, Germline genetic, Genetic counselling, Cancer predisposition, Familial cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772610X24000357; https://doaj.org/toc/2772-610X

Access URL: https://doaj.org/article/80ac3cc002404966bcc44cb173a75ae0

Imaging and multi-omics datasets converge to define different neural progenitor origins for ATRT-SHH subgroups

Authors: María-Jesús Lobón-Iglesias, Mamy Andrianteranagna, Zhi-Yan Han, Céline Chauvin, Julien Masliah-Planchon, Valeria Manriquez, Arnault Tauziede-Espariat, Sandrina Turczynski, Rachida Bouarich-Bourimi, Magali Frah, Christelle Dufour, Thomas Blauwblomme, Liesbeth Cardoen, Gaelle Pierron, Laetitia Maillot, Delphine Guillemot, Stéphanie Reynaud, Christine Bourneix, Célio Pouponnot, Didier Surdez, Mylene Bohec, Sylvain Baulande, Olivier Delattre, Eliane Piaggio, Olivier Ayrault, Joshua J. Waterfall, Nicolas Servant, Kevin Beccaria, Volodia Dangouloff-Ros, Franck Bourdeaut

Source: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/6d882cd6286a4142b5077b07cc2ff82d

Diagnostic accuracy of a minimal immunohistochemical panel in at/rt molecular subtyping, correlated to dna-methylation profiling

Authors: Arnault Tauziède-Espariat, Julien Masliah-Planchon, Mamy Andrianteranagna, Philipp Sievers, Felix Sahm, Andreas von Deimling, Lauren Hasty, Olivier Delattre, Kévin Beccaria, Alice Métais, Fabrice Chrétien, Pascale Varlet, Franck Bourdeaut

Source: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-4 (2023)

Subject Terms: AT/RT, DNA-methylation profiling, TYR, SHH, MYC, Immunohistochemistry., Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/c211988c924d4039a858e93d4cac9aa9

SMARCB1 regulates a TFCP2L1-MYC transcriptional switch promoting renal medullary carcinoma transformation and ferroptosis resistance

Authors: Bujamin H. Vokshi, Guillaume Davidson, Nassim Tawanaie Pour Sedehi, Alexandra Helleux, Marc Rippinger, Alexandre R. Haller, Justine Gantzer, Jonathan Thouvenin, Philippe Baltzinger, Rachida Bouarich, Valeria Manriquez, Sakina Zaidi, Priya Rao, Pavlos Msaouel, Xiaoping Su, Hervé Lang, Thibault Tricard, Véronique Lindner, Didier Surdez, Jean-Emmanuel Kurtz, Franck Bourdeaut, Nizar M. Tannir, Irwin Davidson, Gabriel G. Malouf

Source: Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/01f90a34514d4d2a88792568e2a609ad

Pediatric high-grade glioma MYCN is frequently associated with Li-Fraumeni syndrome

Authors: Léa Guerrini-Rousseau, Arnault Tauziède-Espariat, David Castel, Etienne Rouleau, Philipp Sievers, Raphaël Saffroy, Kévin Beccaria, Thomas Blauwblomme, Lauren Hasty, Franck Bourdeaut, Jacques Grill, Pascale Varlet, Marie-Anne Debily

Source: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-4 (2023)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/fcb93cde8689407bb1f8654b19eec9d8

Laser interstitial thermal therapy is effective and safe for the treatment of brain tumors in NF1 patients after cerebral revascularization for moyamoya angiopathy: a report on two cases

Authors: Lelio Guida, Kevin Beccaria, Sandro Benichi, Manoelle Kossorotof, Olivier Naggara, Marie Bourgeois, Franck Bourdeaut, Samuel Abbou, Volodia Dangouloff-Ros, Nathalie Boddaert, Thomas Blauwblomme

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: laser interstitial thermal therapy (LITT), pediatrics, oncology, moyamoya, revascularization, case report, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1291207/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/8b85a75521da4544be82b22d5e263f80

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

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

Source: EJC Paediatric Oncology, Vol 2, Iss , Pp 100023- (2023)

Subject Terms: Paediatric/adolescent oncology, Very rare tumours, Genetic predisposition, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772610X23000211; https://doaj.org/toc/2772-610X

Access URL: https://doaj.org/article/d62e20c9c6424c0bb4631c4a7f0fd964

Intra‐ and extra‐cranial BCOR‐ITD tumours are separate entities within the BCOR‐rearranged family

Authors: Yassine Bouchoucha, Arnault Tauziède‐Espariat, Arnaud Gauthier, Delphine Guillemot, Dorian Bochaton, Julien Vibert, Matthieu Carton, Sarah Watson, Sandrine Grossetête, Chloé Quignot, Daniel Orbach, Nadège Corradini, Gudrun Schleiermacher, Franck Bourdeaut, Marie Simbozel, Christelle Dufour, Véronique Minard‐Colin, Mehdi Brahmi, Franck Tirode, Daniel Pissaloux, Marie Karanian, Marie‐Christine Machet, Julien Masliah‐Planchon, Olivier Delattre, Liesbeth Cardoen, Gaëlle Pierron, François Doz

Source: The Journal of Pathology: Clinical Research, Vol 8, Iss 3, Pp 217-232 (2022)

Subject Terms: CNS BCOR‐ITD, BCOR‐ITD sarcomas, CCSK, ESS, clustering, transcriptome, Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/2056-4538

Access URL: https://doaj.org/article/e02a318f290e402595038192d567159c

CNS tumors with YWHAE:NUTM2 and KDM2B-fusions present molecular similarities to extra-CNS tumors having BCOR internal tandem duplication or alternative fusions

Authors: Arnault Tauziède-Espariat, Gaëlle Pierron, Delphine Guillemot, Dorian Bochaton, Sarah Watson, Julien Masliah-Planchon, Alexandre Vasiljevic, Alexandra Meurgey, Guillaume Chotard, Lauren Hasty, Ellen Wahler, Emmanuèle Lechapt, Fabrice Chrétien, Jacques Grill, Franck Bourdeaut, Yassine Bouchoucha, Stéphanie Puget, Céline Icher-de-Bouyn, Vincent Jecko, Liesbeth Cardoen, Volodia Dangouloff-Ros, Nathalie Boddaert, Pascale Varlet, on behalf of the RENOCLIP-LOC

Source: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-5 (2021)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/bc48f8e9a4284f6bb07ce44b282c38e3

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

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

Source: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)

Subject Terms: Ependymoma, ZFTA, RELA, DNA-methylation, Clusters, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/760e1e11f97e4d039be01fc2b9183b94

High-grade childhood intra-parenchymal brain tumor clustering with ATRT and expanding the cancer spectrum related to inherited SMARCE1 truncating variations

Authors: Fabien Forest, Julien Masliah-Planchon, Claire Berger, Fabienne Prieur, Elodie Girard, Fanny Burel-Vandenbos, Claire Boutet, François Vassal, Franck Bourdeaut, Catherine Godfraind

Source: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-3 (2022)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/66eea3f97f964c2899e6d2f2ed43ef55

The transcriptional landscape of Shh medulloblastoma

Authors: Patryk Skowron, Hamza Farooq, Florence M. G. Cavalli, A. Sorana Morrissy, Michelle Ly, Liam D. Hendrikse, Evan Y. Wang, Haig Djambazian, Helen Zhu, Karen L. Mungall, Quang M. Trinh, Tina Zheng, Shizhong Dai, Ana S. Guerreiro Stucklin, Maria C. Vladoiu, Vernon Fong, Borja L. Holgado, Carolina Nor, Xiaochong Wu, Diala Abd-Rabbo, Pierre Bérubé, Yu Chang Wang, Betty Luu, Raul A. Suarez, Avesta Rastan, Aaron H. Gillmor, John J. Y. Lee, Xiao Yun Zhang, Craig Daniels, Peter Dirks, David Malkin, Eric Bouffet, Uri Tabori, James Loukides, François P. Doz, Franck Bourdeaut, Olivier O. Delattre, Julien Masliah-Planchon, Olivier Ayrault, Seung-Ki Kim, David Meyronet, Wieslawa A. Grajkowska, Carlos G. Carlotti, Carmen de Torres, Jaume Mora, Charles G. Eberhart, Erwin G. Van Meir, Toshihiro Kumabe, Pim J. French, Johan M. Kros, Nada Jabado, Boleslaw Lach, Ian F. Pollack, Ronald L. Hamilton, Amulya A. Nageswara Rao, Caterina Giannini, James M. Olson, László Bognár, Almos Klekner, Karel Zitterbart, Joanna J. Phillips, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Linda M. Liau, Miklós Garami, Peter Hauser, Kay Ka Wai Li, Ho-Keung Ng, Wai Sang Poon, G. Yancey Gillespie, Jennifer A. Chan, Shin Jung, Roger E. McLendon, Eric M. Thompson, David Zagzag, Rajeev Vibhakar, Young Shin Ra, Maria Luisa Garre, Ulrich Schüller, Tomoko Shofuda, Claudia C. Faria, Enrique López-Aguilar, Gelareh Zadeh, Chi-Chung Hui, Vijay Ramaswamy, Swneke D. Bailey, Steven J. Jones, Andrew J. Mungall, Richard A. Moore, John A. Calarco, Lincoln D. Stein, Gary D. Bader, Jüri Reimand, Jiannis Ragoussis, William A. Weiss, Marco A. Marra, Hiromichi Suzuki, Michael D. Taylor

Source: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/091429a4162845e7a18371f487596c6f

The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of 'CNS tumors with BCOR internal tandem duplication'

Authors: Arnault Tauziède-Espariat, Gaëlle Pierron, Aurore Siegfried, Delphine Guillemot, Emmanuelle Uro-Coste, Yvan Nicaise, David Castel, Isabelle Catalaa, Delphine Larrieu-Ciron, Patrick Chaynes, Amaury de Barros, Julien Nicolau, Albane Gareton, Emmanuèle Lechapt, Fabrice Chrétien, Franck Bourdeaut, François Doz, Yassine Bouchoucha, Jacques Grill, Kévin Beccaria, Nathalie Boddaert, Raphaël Saffroy, Mélanie Pagès, Pascale Varlet

Source: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-6 (2020)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-01064-8; https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/156c9a0b3ed2428b85104c28a53b9e98

An autocrine ActivinB mechanism drives TGFβ/Activin signaling in Group 3 medulloblastoma

Authors: Morgane Morabito, Magalie Larcher, Florence MG Cavalli, Chloé Foray, Antoine Forget, Liliana Mirabal‐Ortega, Mamy Andrianteranagna, Sabine Druillennec, Alexandra Garancher, Julien Masliah‐Planchon, Sophie Leboucher, Abel Debalkew, Alessandro Raso, Olivier Delattre, Stéphanie Puget, François Doz, Michael D Taylor, Olivier Ayrault, Franck Bourdeaut, Alain Eychène, Celio Pouponnot

Source: EMBO Molecular Medicine, Vol 11, Iss 8, Pp 1-17 (2019)

Subject Terms: activin, medulloblastoma, Smad2, Smad3, TGFbeta, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/953a146597434510bae487e93455a269

Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia

Authors: Aurore Siegfried, Julien Masliah-Planchon, Franck-Emmanuel Roux, Delphine Larrieu-Ciron, Gaelle Pierron, Yvan Nicaise, Marion Gambart, Isabelle Catalaa, Sarah Péricart, Charlotte Dubucs, Badreddine Mohand-Oumoussa, Franck Tirode, Franck Bourdeaut, Emmanuelle Uro-Coste

Source: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-3 (2019)

Subject Terms: NUTM1, ATXN1, NUTM1-rearranged neoplasia, RNA sequencing, DNA methylation-based classification, Central nervous system, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/b02c7a1d235a4ee185f6d2d2ceafd7af

High-Throughput Drug Screening Identifies Pazopanib and Clofilium Tosylate as Promising Treatments for Malignant Rhabdoid Tumors

Authors: Céline Chauvin, Amaury Leruste, Arnault Tauziede-Espariat, Mamy Andrianteranagna, Didier Surdez, Aurianne Lescure, Zhi-Yan Han, Elodie Anthony, Wilfrid Richer, Sylvain Baulande, Mylène Bohec, Sakina Zaidi, Marie-Ming Aynaud, Laetitia Maillot, Julien Masliah-Planchon, Stefano Cairo, Sergio Roman-Roman, Olivier Delattre, Elaine Del Nery, Franck Bourdeaut

Source: Cell Reports, Vol 21, Iss 7, Pp 1737-1745 (2017)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124717315395; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/d423d349b9b14f909111a6ac8efab59a

The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation

Authors: Zhi-Yan Han, Wilfrid Richer, Paul Fréneaux, Céline Chauvin, Carlo Lucchesi, Delphine Guillemot, Camille Grison, Delphine Lequin, Gaelle Pierron, Julien Masliah-Planchon, André Nicolas, Dominique Ranchère-Vince, Pascale Varlet, Stéphanie Puget, Isabelle Janoueix-Lerosey, Olivier Ayrault, Didier Surdez, Olivier Delattre, Franck Bourdeaut

Source: Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/db7502ce51b84400a57d9b5dd944a70e

Ultrasound Presentation of a Disseminated Fetal and Neonatal Rhabdoid Tumor

Authors: Yolaine Joueidi, Aline Rousselin, Céline Rozel, Philippe Loget, Dominique Ranchere Vince, Sylvie Odent, Franck Bourdeaut, Vincent Lavoue, Maela Le Lous

Source: Case Reports in Obstetrics and Gynecology, Vol 2018 (2018)

Subject Terms: Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: https://doaj.org/toc/2090-6684; https://doaj.org/toc/2090-6692

Access URL: https://doaj.org/article/42758abcbd22416b924e2b32fed05d35

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