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3. Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case–control study

Author

de Bloeme , Christiaan M., Jansen, Robin W., Cardoen, Liesbeth, Göricke, Sophia, van Elst, Sabien, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H., Miller, Audra K., Maeder, Philippe, Uner, Ogul E., Hubbard, G. Baker, Grossniklaus, Hans, Boldt, H. Culver, Nichols, Kim E., Brennan, Rachel C., Sen, Saugata, Koob, Mériam, Sirin, Selma, Brisse, Hervé J., Galluzzi, Paolo, Dommering, Charlotte J., Cysouw, Matthijs, Boellaard, Ronald, Dorsman, Josephine C., Moll, Annette C., de Jong, Marcus C., and de Graaf, Pim

Published
2024
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4. Correlation of gene expression with magnetic resonance imaging features of retinoblastoma: a multi-center radiogenomics validation study

Author

Jansen, Robin W., Roohollahi, Khashayar, Uner, Ogul E., de Jong, Yvonne, de Bloeme, Christiaan M., Göricke, Sophia, Sirin, Selma, Maeder, Philippe, Galluzzi, Paolo, Brisse, Hervé J., Cardoen, Liesbeth, Castelijns, Jonas A., van der Valk, Paul, Moll, Annette C., Grossniklaus, Hans, Hubbard, G. Baker, de Jong, Marcus C., Dorsman, Josephine, and de Graaf, Pim

Published
2024
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8. Reversible transitions between noradrenergic and mesenchymal tumor identities define cell plasticity in neuroblastoma

Author

Thirant, Cécile, Peltier, Agathe, Durand, Simon, Kramdi, Amira, Louis-Brennetot, Caroline, Pierre-Eugène, Cécile, Gautier, Margot, Costa, Ana, Grelier, Amandine, Zaïdi, Sakina, Gruel, Nadège, Jimenez, Irène, Lapouble, Eve, Pierron, Gaëlle, Sitbon, Déborah, Brisse, Hervé J., Gauthier, Arnaud, Fréneaux, Paul, Grossetête, Sandrine, Baudrin, Laura G., Raynal, Virginie, Baulande, Sylvain, Bellini, Angela, Bhalshankar, Jaydutt, Carcaboso, Angel M., Geoerger, Birgit, Rohrer, Hermann, Surdez, Didier, Boeva, Valentina, Schleiermacher, Gudrun, Delattre, Olivier, and Janoueix-Lerosey, Isabelle

Published
2023
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9. 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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11. NUT carcinoma in children, adolescents and young adults

Author

Lemelle, Lauriane, Moya-Plana, Antoine, Dumont, Benoît, Fresneau, Brice, Laprie, Anne, Claude, Line, Deneuve, Sophie, Cordero, Camille, Pierron, Gaelle, Couloigner, Vincent, Bernard, Sophie, Cardoen, Liesbeth, Brisse, Hervé J., Jehanno, Nina, Metayer, Lucy, Fréneaux, Paul, Helfre, Sylvie, Kolb, Fréderic, Thariat, Juliette, Réguerre, Yves, and Orbach, Daniel

Published
2022
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13. Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis

Author

Jiménez, Irene, Frouin, Éléonore, Chicard, Mathieu, Dehainault, Catherine, Le Gall, Jessica, Benoist, Camille, Gauthier, Arnaud, Lapouble, Eve, Houdayer, Claude, Radvanyi, François, Bernard, Virginie, Brisse, Hervé J., Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Baulande, Sylvain, Cassoux, Nathalie, Lumbroso, Livia, Matet, Alexandre, Aerts, Isabelle, Renault, Victor, Doz, François, Golmard, Lisa, Delattre, Olivier, and Schleiermacher, Gudrun

Published
2021
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17. New Born and Infant Soft Tissue Sarcomas

Author

Butel, Thibault, Dumont, Benoit, Leruste, Amaury, Galmiche, Louise, Pierron, Gaëlle, Pannier, Stéphanie, Brisse, Hervé J., Minard-Colin, Véronique, Orbach, Daniel, Chevreau, Christine, editor, and Italiano, Antoine, editor

Published
2020
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19. Radiology

Author

Brisse, Hervé J., Verhagen, Martijn, McHugh, Kieran, Granata, Claudio, Sarnacki, Sabine, editor, and Pio, Luca, editor

Published
2020
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20. Diagnostic performance of fine‐needle aspiration in soft tissue tumors: Application of the World Health Organization System for Reporting Soft Tissue Cytopathology and risk of malignancy assessment.

Author

Gajdzis, Pawel, Brisse, Hervé J., and Klijanienko, Jerzy

Abstract

Background: Recently, a new World Health Organization Reporting System for Soft Tissue Cytopathology (WHO System) was introduced. To analyze the value of this system, routine fine‐needle aspiration soft tissue tumor (STT) cases were reviewed. Methods: Cytology samples of STTs collected between 1954 and 2022 at the Institut Curie were used (2214 cases, including 1376 primary tumors). All specimens were classified according to the predominant cytomorphological pattern and the WHO System. The diagnostic accuracy and risk of malignancy (ROM) in each category were calculated. Results: Final diagnoses revealed 1236 malignancies and 978 benign or low‐risk tumors. The original cytological evaluation led to 21 false‐negative results (0.85%) and 29 false‐positive results (1.17%). Sensitivity, specificity, positive predictive value, and negative predictive value were 98.3%, 92.1%, 97.5%, and 94.2%, respectively. Overall diagnostic accuracy was 94.2%. The ROM calculated according to the WHO System was 29.87%, 2.49%, 39.62%, 51.43%, 68.42%, and 97.69% in the nondiagnostic, benign, atypical, soft tissue neoplasm of uncertain malignant potential, suspicious for malignancy, and malignant categories, respectively; however, it varied broadly depending on the morphological pattern (62.78% in spindle cell tumors, 84.58% in myxoid tumors, 3.00% in lipomatous tumors, 78.15% in epithelioid tumors, 94.26% in pleomorphic tumors, and 100% in round cell tumors). Conclusions: Cytology of STTs is a powerful diagnostic method. Some cytological patterns overlap in different morphological groups, and the possibility of false‐negative and false‐positive diagnoses may persist. This analysis evidenced utility of the WHO System, especially when combined with morphological pattern assessment. Subclassification in particular diagnostic categories allowed for calculation of the ROM, which is crucial for optimal patient management. The cytological evaluation of soft tissue tumors seems to be a powerful diagnostic method and can be successfully applied in adult and pediatric populations. However, some cytological patterns may overlap in different morphological groups of lesions and the possibility of a false‐negative and false‐positive diagnosis may persist. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case-control study

Author

de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Koob, Mériam, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Cysouw, Matthijs, Boellaard, Ronald; https://orcid.org/0000-0002-0313-5686, Dorsman, Josephine C, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, de Graaf, Pim; https://orcid.org/0000-0003-1938-0747, European Retinoblastoma Imaging Collaboration, de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Koob, Mériam, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Cysouw, Matthijs, Boellaard, Ronald; https://orcid.org/0000-0002-0313-5686, Dorsman, Josephine C, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, de Graaf, Pim; https://orcid.org/0000-0003-1938-0747, and European Retinoblastoma Imaging Collaboration

Abstract

MYCN-amplified RB1 wild-type (MYCN$^{amp}$RB1$^{+/+}$) retinoblastoma is a rare and aggressive subtype, often resistant to standard therapies. Identifying unique MRI features is crucial for diagnosing this subtype, as biopsy is not recommended. This study aimed to differentiate MYCN$^{amp}$RB1$^{+/+}$ from the most prevalent RB1$^{-/-}$ retinoblastoma using pretreatment MRI and radiomics. Ninety-eight unilateral retinoblastoma patients (19 MYCN cases and 79 matched controls) were included. Tumors on T2-weighted MR images were manually delineated and validated by experienced radiologists. Radiomics analysis extracted 120 features per tumor. Several combinations of feature selection methods, oversampling techniques and machine learning (ML) classifiers were evaluated in a repeated fivefold cross-validation machine learning pipeline to yield the best-performing prediction model for MYCN. The best model used univariate feature selection, data oversampling (duplicating MYCN cases), and logistic regression classifier, achieving a mean AUC of 0.78 (SD 0.12). SHAP analysis highlighted lower sphericity, higher flatness, and greater gray-level heterogeneity as predictive for MYCN$^{amp}$RB1$^{+/+}$ status, yielding an AUC of 0.81 (SD 0.11). This study shows the potential of MRI-based radiomics to distinguish MYCN$^{amp}$RB1$^{+/+}$ and RB1$^{-/-}$ retinoblastoma subtypes.

Published
2024

24. MR Imaging of Adverse Effects and Ocular Growth Decline after Selective Intra-Arterial Chemotherapy for Retinoblastoma

Author

de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, de Haan, Joeka; https://orcid.org/0009-0008-3050-6703, Göricke, Sophia, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, Bot, Joseph C J, Munier, Francis L; https://orcid.org/0000-0002-8928-1050, Beck-Popovic, Maja; https://orcid.org/0000-0001-9502-5697, Puccinelli, Francesco, Aerts, Isabelle, Hadjistilianou, Theodora, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Koob, Mériam, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, de Graaf, Pim; https://orcid.org/0000-0003-1938-0747, de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, de Haan, Joeka; https://orcid.org/0009-0008-3050-6703, Göricke, Sophia, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, Bot, Joseph C J, Munier, Francis L; https://orcid.org/0000-0002-8928-1050, Beck-Popovic, Maja; https://orcid.org/0000-0001-9502-5697, Puccinelli, Francesco, Aerts, Isabelle, Hadjistilianou, Theodora, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Koob, Mériam, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, and de Graaf, Pim; https://orcid.org/0000-0003-1938-0747

Abstract

This retrospective multicenter study examines therapy-induced orbital and ocular MRI findings in retinoblastoma patients following selective intra-arterial chemotherapy (SIAC) and quantifies the impact of SIAC on ocular and optic nerve growth. Patients were selected based on medical chart review, with inclusion criteria requiring the availability of posttreatment MR imaging encompassing T2-weighted and T1-weighted images (pre- and post-intravenous gadolinium administration). Qualitative features and quantitative measurements were independently scored by experienced radiologists, with deep learning segmentation aiding total eye volume assessment. Eyes were categorized into three groups: eyes receiving SIAC (Rb-SIAC), eyes treated with other eye-saving methods (Rb-control), and healthy eyes. The most prevalent adverse effects post-SIAC were inflammatory and vascular features, with therapy-induced contrast enhancement observed in the intraorbital optic nerve segment in 6% of patients. Quantitative analysis revealed significant growth arrest in Rb-SIAC eyes, particularly when treatment commenced ≤ 12 months of age. Optic nerve atrophy was a significant complication in Rb-SIAC eyes. In conclusion, this study highlights the vascular and inflammatory adverse effects observed post-SIAC in retinoblastoma patients and demonstrates a negative impact on eye and optic nerve growth, particularly in children treated ≤ 12 months of age, providing crucial insights for clinical management and future research.

Published
2024

26. 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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27. General Considerations

Author

Klijanienko, Jerzy, Cohen-Gogo, Sarah, Choucair, Marie Louise, Orbach, Daniel, Cellier, Cécile, Brisse, Hervé J., Cappellesso, Rocco, Fassina, Ambrogio, Theocharis, Stamatios, Berrebi, Patsy Dominique, Peuchmaur, Michel, Klijanienko, Jerzy, editor, Pohar Marinšek, Živa, editor, and Domanski, Henryk A, editor

Published
2018
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32. Results of methotrexate-etoposide-ifosfamide based regimen (M-EI) in osteosarcoma patients included in the French OS2006/sarcome-09 study

Author

Gaspar, Nathalie, Occean, Bob-Valéry, Pacquement, Hélène, Bompas, Emmanuelle, Bouvier, Corine, Brisse, Hervé J., Castex, Marie-Pierre, Cheurfa, Nadir, Corradini, Nadège, Delaye, Jessy, Entz-Werlé, Natacha, Gentet, Jean-Claude, Italiano, Antoine, Lervat, Cyril, Marec-Berard, Perrine, Mascard, Eric, Redini, Françoise, Saumet, Laure, Schmitt, Claudine, Tabone, Marie-Dominique, Verite-Goulard, Cécile, Le Deley, Marie-Cécile, Piperno-Neumann, Sophie, and Brugieres, Laurence

Published
2018
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34. Image‐guided core‐needle or surgical biopsy for neuroblastoma diagnosis in children: A systematic review and meta‐analysis from the International Society of Pediatric Surgical Oncology (IPSO)

Author

Pio, Luca, primary, Brisse, Hervé J., additional, Alaggio, Rita, additional, Zambaiti, Elisa, additional, Stenman, Jacob, additional, Giuliani, Stefano, additional, Montano, Valentina, additional, Hinojosa, Alexander Siles, additional, Hoel, Anders Toel, additional, Pevere, Andrea, additional, Abu‐Zaid, Ahmed, additional, Franchi‐Abella, Stephanie, additional, Abdelhafeez, Abdelhafeez H., additional, Davidoff, Andrew M., additional, and Losty, Paul D., additional

Published
2023
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36. MR Imaging of Adverse Effects and Ocular Growth Decline after Selective Intra-Arterial Chemotherapy for Retinoblastoma.

Author

de Bloeme, Christiaan M., van Elst, Sabien, Galluzzi, Paolo, Jansen, Robin W., de Haan, Joeka, Göricke, Sophia, Moll, Annette C., Bot, Joseph C. J., Munier, Francis L., Beck-Popovic, Maja, Puccinelli, Francesco, Aerts, Isabelle, Hadjistilianou, Theodora, Sirin, Selma, Koob, Mériam, Brisse, Hervé J., Cardoen, Liesbeth, Maeder, Philippe, de Jong, Marcus C., and de Graaf, Pim

Subjects
OPTIC nerve diseases, VISION disorders, EYE, QUALITATIVE research, RESEARCH funding, DISEASE management, MAGNETIC resonance imaging, RETROSPECTIVE studies, QUANTITATIVE research, TREATMENT effectiveness, RETINOBLASTOMA, CANCER chemotherapy, RESEARCH, DEEP learning, COMPARATIVE studies, INFLAMMATION
Abstract

Simple Summary: This study investigates the adverse effects of selective intra-arterial chemotherapy (SIAC) on the eyes and optic nerves of retinoblastoma patients using magnetic resonance imaging (MRI). We aim to understand the post-SIAC changes in orbital and ocular structures and evaluate their impact on eye and optic nerve growth. Experienced radiologists analyzed MR images of retinoblastoma eyes treated with SIAC, comparing them to eyes treated with other eye-saving methods and healthy eyes. Results reveal common adverse effects like inflammation and vascular changes, along with significant ocular growth arrest and optic nerve atrophy in eyes treated with SIAC, especially in children treated ≤ 12 months of age. This study underscores the importance of careful consideration when utilizing SIAC, particularly in young patients, due to its potential negative effects on eye and optic nerve development. This retrospective multicenter study examines therapy-induced orbital and ocular MRI findings in retinoblastoma patients following selective intra-arterial chemotherapy (SIAC) and quantifies the impact of SIAC on ocular and optic nerve growth. Patients were selected based on medical chart review, with inclusion criteria requiring the availability of posttreatment MR imaging encompassing T2-weighted and T1-weighted images (pre- and post-intravenous gadolinium administration). Qualitative features and quantitative measurements were independently scored by experienced radiologists, with deep learning segmentation aiding total eye volume assessment. Eyes were categorized into three groups: eyes receiving SIAC (Rb-SIAC), eyes treated with other eye-saving methods (Rb-control), and healthy eyes. The most prevalent adverse effects post-SIAC were inflammatory and vascular features, with therapy-induced contrast enhancement observed in the intraorbital optic nerve segment in 6% of patients. Quantitative analysis revealed significant growth arrest in Rb-SIAC eyes, particularly when treatment commenced ≤ 12 months of age. Optic nerve atrophy was a significant complication in Rb-SIAC eyes. In conclusion, this study highlights the vascular and inflammatory adverse effects observed post-SIAC in retinoblastoma patients and demonstrates a negative impact on eye and optic nerve growth, particularly in children treated ≤ 12 months of age, providing crucial insights for clinical management and future research. [ABSTRACT FROM AUTHOR]

Published
2024
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37. Radiology

Author

Brisse, Hervé J., primary, Verhagen, Martijn, additional, McHugh, Kieran, additional, and Granata, Claudio, additional

Published
2019
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39. 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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41. Reversible transitions between noradrenergic and mesenchymal tumor identities define cell plasticity in neuroblastoma

Author

Thirant, Cécile; https://orcid.org/0000-0003-3873-5240, Peltier, Agathe; https://orcid.org/0000-0003-0017-277X, Durand, Simon; https://orcid.org/0000-0003-1748-7655, Kramdi, Amira, Louis-Brennetot, Caroline; https://orcid.org/0000-0002-4952-3828, Pierre-Eugène, Cécile, Gautier, Margot; https://orcid.org/0000-0003-4028-3466, Costa, Ana; https://orcid.org/0000-0002-0893-3388, Grelier, Amandine, Zaïdi, Sakina; https://orcid.org/0000-0001-9128-0287, Gruel, Nadège, Jimenez, Irène; https://orcid.org/0000-0002-3544-4045, Lapouble, Eve; https://orcid.org/0000-0003-3374-3671, Pierron, Gaëlle; https://orcid.org/0000-0002-2536-7680, Sitbon, Déborah, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Gauthier, Arnaud, Fréneaux, Paul, Grossetête, Sandrine, Baudrin, Laura G, Raynal, Virginie, Baulande, Sylvain, Bellini, Angela, Bhalshankar, Jaydutt, Carcaboso, Angel M; https://orcid.org/0000-0002-8485-426X, Geoerger, Birgit; https://orcid.org/0000-0003-4361-3643, Rohrer, Hermann; https://orcid.org/0000-0001-7023-1355, Surdez, Didier; https://orcid.org/0000-0002-7118-7859, Boeva, Valentina; https://orcid.org/0000-0002-4382-7185, Schleiermacher, Gudrun; https://orcid.org/0000-0002-0133-5879, et al, Thirant, Cécile; https://orcid.org/0000-0003-3873-5240, Peltier, Agathe; https://orcid.org/0000-0003-0017-277X, Durand, Simon; https://orcid.org/0000-0003-1748-7655, Kramdi, Amira, Louis-Brennetot, Caroline; https://orcid.org/0000-0002-4952-3828, Pierre-Eugène, Cécile, Gautier, Margot; https://orcid.org/0000-0003-4028-3466, Costa, Ana; https://orcid.org/0000-0002-0893-3388, Grelier, Amandine, Zaïdi, Sakina; https://orcid.org/0000-0001-9128-0287, Gruel, Nadège, Jimenez, Irène; https://orcid.org/0000-0002-3544-4045, Lapouble, Eve; https://orcid.org/0000-0003-3374-3671, Pierron, Gaëlle; https://orcid.org/0000-0002-2536-7680, Sitbon, Déborah, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Gauthier, Arnaud, Fréneaux, Paul, Grossetête, Sandrine, Baudrin, Laura G, Raynal, Virginie, Baulande, Sylvain, Bellini, Angela, Bhalshankar, Jaydutt, Carcaboso, Angel M; https://orcid.org/0000-0002-8485-426X, Geoerger, Birgit; https://orcid.org/0000-0003-4361-3643, Rohrer, Hermann; https://orcid.org/0000-0001-7023-1355, Surdez, Didier; https://orcid.org/0000-0002-7118-7859, Boeva, Valentina; https://orcid.org/0000-0002-4382-7185, Schleiermacher, Gudrun; https://orcid.org/0000-0002-0133-5879, and et al

Abstract

Noradrenergic and mesenchymal identities have been characterized in neuroblastoma cell lines according to their epigenetic landscapes and core regulatory circuitries. However, their relationship and relative contribution in patient tumors remain poorly defined. We now document spontaneous and reversible plasticity between the two identities, associated with epigenetic reprogramming, in several neuroblastoma models. Interestingly, xenografts with cells from each identity eventually harbor a noradrenergic phenotype suggesting that the microenvironment provides a powerful pressure towards this phenotype. Accordingly, such a noradrenergic cell identity is systematically observed in single-cell RNA-seq of 18 tumor biopsies and 15 PDX models. Yet, a subpopulation of these noradrenergic tumor cells presents with mesenchymal features that are shared with plasticity models, indicating that the plasticity described in these models has relevance in neuroblastoma patients. This work therefore emphasizes that intrinsic plasticity properties of neuroblastoma cells are dependent upon external cues of the environment to drive cell identity.

Published
2023

42. Correlation of gene expression with magnetic resonance imaging features of retinoblastoma: a multi-center radiogenomics validation study

Author

Jansen, Robin W, Roohollahi, Khashayar, Uner, Ogul E, de Jong, Yvonne, de Bloeme, Christiaan M, Göricke, Sophia, Sirin, Selma, Maeder, Philippe, Galluzzi, Paolo, Brisse, Hervé J, Cardoen, Liesbeth, Castelijns, Jonas A, van der Valk, Paul, Moll, Annette C, Grossniklaus, Hans, Hubbard, G Baker, de Jong, Marcus C, Dorsman, Josephine, de Graaf, Pim, Jansen, Robin W, Roohollahi, Khashayar, Uner, Ogul E, de Jong, Yvonne, de Bloeme, Christiaan M, Göricke, Sophia, Sirin, Selma, Maeder, Philippe, Galluzzi, Paolo, Brisse, Hervé J, Cardoen, Liesbeth, Castelijns, Jonas A, van der Valk, Paul, Moll, Annette C, Grossniklaus, Hans, Hubbard, G Baker, de Jong, Marcus C, Dorsman, Josephine, and de Graaf, Pim

Abstract

OBJECTIVES To validate associations between MRI features and gene expression profiles in retinoblastoma, thereby evaluating the repeatability of radiogenomics in retinoblastoma. METHODS In this retrospective multicenter cohort study, retinoblastoma patients with gene expression data and MRI were included. MRI features (scored blinded for clinical data) and matched genome-wide gene expression data were used to perform radiogenomic analysis. Expression data from each center were first separately processed and analyzed. The end product normalized expression values from different sites were subsequently merged by their Z-score to permit cross-sites validation analysis. The MRI features were non-parametrically correlated with expression of photoreceptorness (radiogenomic analysis), a gene expression signature informing on disease progression. Outcomes were compared to outcomes in a previous described cohort. RESULTS Thirty-six retinoblastoma patients were included, 15 were female (42%), and mean age was 24 (SD 18) months. Similar to the prior evaluation, this validation study showed that low photoreceptorness gene expression was associated with advanced stage imaging features. Validated imaging features associated with low photoreceptorness were multifocality, a tumor encompassing the entire retina or entire globe, and a diffuse growth pattern (all p < 0.05). There were a number of radiogenomic associations that were also not validated. CONCLUSIONS A part of the radiogenomic associations could not be validated, underlining the importance of validation studies. Nevertheless, cross-center validation of imaging features associated with photoreceptorness gene expression highlighted the capability radiogenomics to non-invasively inform on molecular subtypes in retinoblastoma. CLINICAL RELEVANCE STATEMENT Radiogenomics may serve as a surrogate for molecular subtyping based on histopathology material in an era of eye-sparing retinoblastoma treatment strategies. KEY POINTS - Sin

Published
2023

43. MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma

Author

Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Castelijns, Jonas A, van der Valk, Paul, Boellaard, Ronald, Dorsman, Josephine, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, de Graaf, Pim; https://orcid.org/0000-0003-1938-0747, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Castelijns, Jonas A, van der Valk, Paul, Boellaard, Ronald, Dorsman, Josephine, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, and de Graaf, Pim; https://orcid.org/0000-0003-1938-0747

Abstract

Background MYCN-amplified RB1 wild-type (MYCN$^{A}$RB1$^{+/+}$) retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to typical therapeutic approaches. Because biopsy is not indicated in retinoblastoma, specific MRI features might be valuable to identify children with this genetic subtype. Purpose To define the MRI phenotype of MYCN$^{A}$RB1$^{+/+}$ retinoblastoma and evaluate the ability of qualitative MRI features to help identify this specific genetic subtype. Materials and Methods In this retrospective, multicenter, case-control study, MRI scans in children with MYCN$^{A}$RB1$^{+/+}$ retinoblastoma and age-matched children with RB1$^{-/-}$ subtype retinoblastoma were included (case-control ratio, 1:4; scans acquired from June 2001 to February 2021; scans collected from May 2018 to October 2021). Patients with histopathologically confirmed unilateral retinoblastoma, genetic testing (RB1/MYCN status), and MRI scans were included. Associations between radiologist-scored imaging features and diagnosis were assessed with the Fisher exact test or Fisher-Freeman-Halton test, and Bonferroni-corrected P values were calculated. Results A total of 110 patients from 10 retinoblastoma referral centers were included: 22 children with MYCN$^{A}$RB1$^{+/+}$ retinoblastoma and 88 control children with RB1$^{-/-}$ retinoblastoma. Children in the MYCN$^{A}$RB1$^{+/+}$ group had a median age of 7.0 months (IQR, 5.0-9.0 months) (13 boys), while children in the RB1$^{-/-}$ group had a median age of 9.0 months (IQR, 4.6-13.4 months) (46 boys). MYCN$^{A}$RB1$^{+/+}$ retinoblastomas were typically peripherally located (in 10 of 17 children; specificity, 97%; P < .001) and exhibited plaque or pleomorphic shape (in 20 of 22 children; specificity, 51%; P = .011) with irregular margins (in 16 of 22 children; specificity, 70%; P = .008) and extensive retina folding with vitreous enclosure (specificity, 94%; P < .0

Published
2023

44. Image‐guided core‐needle or surgical biopsy for neuroblastoma diagnosis in children: A systematic review and meta‐analysis from the International Society of Pediatric Surgical Oncology (IPSO).

Author

Pio, Luca, Brisse, Hervé J., Alaggio, Rita, Zambaiti, Elisa, Stenman, Jacob, Giuliani, Stefano, Montano, Valentina, Hinojosa, Alexander Siles, Hoel, Anders Toel, Pevere, Andrea, Abu‐Zaid, Ahmed, Franchi‐Abella, Stephanie, Abdelhafeez, Abdelhafeez H., Davidoff, Andrew M., and Losty, Paul D.

Published
2024
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45. Fat-Containing Soft Tissue Tumors in Children, Adolescents, and Young Adults: Which Require Biopsy?

Author

Cardoen, Liesbeth, primary, Nicolas, Nayla, additional, Le Gaudu, Violette, additional, Gauthier, Arnaud, additional, Carton, Matthieu, additional, Berrebi, Dominique, additional, Cyrta, Joanna, additional, Collignon, Charlotte, additional, Cordero, Camille, additional, Pierron, Gaëlle, additional, Pannier, Stéphanie, additional, Philippe-Chomette, Pascale, additional, Orbach, Daniel, additional, and Brisse, Hervé J., additional

Published
2023
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46. MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma

Author

Jansen, Robin W., primary, de Bloeme, Christiaan M., additional, Cardoen, Liesbeth, additional, Göricke, Sophia, additional, van Elst, Sabien, additional, Jessen, Jaime Lyn, additional, Ramasubramanian, Aparna, additional, Skalet, Alison H., additional, Miller, Audra K., additional, Maeder, Philippe, additional, Uner, Ogul E., additional, Hubbard, G. Baker, additional, Grossniklaus, Hans, additional, Boldt, H. Culver, additional, Nichols, Kim E., additional, Brennan, Rachel C., additional, Sen, Saugata, additional, Sirin, Selma, additional, Brisse, Hervé J., additional, Galluzzi, Paolo, additional, Dommering, Charlotte J., additional, Castelijns, Jonas A., additional, van der Valk, Paul, additional, Boellaard, Ronald, additional, Dorsman, Josephine, additional, Moll, Annette C., additional, de Jong, Marcus C., additional, and de Graaf, Pim, additional

Published
2023
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47. 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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48. How can we differentiate supratentorial tumor recurrence from postradiation imaging changes in children treated for primary malignant brain tumors?

Author

Zittoun, Jacob, primary, Dangouloff-Ros, Volodia, additional, Cardoen, Liesbeth, additional, Rutten, Caroline, additional, Bolle, Stéphanie, additional, Alapetite, Claire, additional, Levy, Raphaël, additional, Grévent, David, additional, Grill, Jacques, additional, Brisse, Hervé J., additional, Doz, François, additional, Blauwblomme, Thomas, additional, Beccaria, Kévin, additional, Charpy, Sarah, additional, Roux, Charles-Joris, additional, Varlet, Pascale, additional, Dufour, Christelle, additional, Puget, Stéphanie, additional, and Boddaert, Nathalie, additional

Published
2023
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