Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.

Autor:	Raveneau M; Pediatric Radiology Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France., Guerrini-Rousseau L; Department of Pediatric and Adolescent Oncology, Gustave Roussy Institute, 114 rue Edouard Vaillant, 94805, Villejuif, France.; Génomique et Oncogénèse des Tumeurs Cérébrales Pédiatriques, Gustave Roussy Cancer Center and Paris-Saclay University, INSERM U981, Villejuif, France., Levy R; Pediatric Radiology Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France.; INSERM U1299, F-75015, Paris, France.; UMR 1163, Institut Imagine, F-75015, Paris, France., Roux CJ; Pediatric Radiology Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France.; INSERM U1299, F-75015, Paris, France.; UMR 1163, Institut Imagine, F-75015, Paris, France., Bolle S; Radiation Therapy Department, Gustave Roussy Institute, 114 rue Edouard Vaillant, 94805, Villejuif, France., Doz F; 12 rue de l'École de Médecine, Université Paris Cité, Paris, France.; Oncology Center SIREDO (Care Innovation and Research for Children, Adolescents and Young Adults with Cancer), Institute Curie, 26 rue d'Ulm, 75005, Paris, France., Bourdeaut F; 12 rue de l'École de Médecine, Université Paris Cité, Paris, France.; Oncology Center SIREDO (Care Innovation and Research for Children, Adolescents and Young Adults with Cancer), Institute Curie, 26 rue d'Ulm, 75005, Paris, France., Colas C; Clinical Genetics Unit, Institute Curie, 26 rue d'Ulm, 75005, Paris, France., Blauwblomme T; 12 rue de l'École de Médecine, Université Paris Cité, Paris, France.; Pediatric Neurosurgery Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France., Beccaria K; 12 rue de l'École de Médecine, Université Paris Cité, Paris, France.; Pediatric Neurosurgery Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France., Tauziède-Espariat A; Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Hôpital Sainte-Anne, 75014, Paris, France.; Ima-Brain team, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, 75014, Paris, France., Varlet P; 12 rue de l'École de Médecine, Université Paris Cité, Paris, France.; Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Hôpital Sainte-Anne, 75014, Paris, France.; Ima-Brain team, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, 75014, Paris, France., Dufour C; Department of Pediatric and Adolescent Oncology, Gustave Roussy Institute, 114 rue Edouard Vaillant, 94805, Villejuif, France.; Génomique et Oncogénèse des Tumeurs Cérébrales Pédiatriques, Gustave Roussy Cancer Center and Paris-Saclay University, INSERM U981, Villejuif, France., Grill J; Department of Pediatric and Adolescent Oncology, Gustave Roussy Institute, 114 rue Edouard Vaillant, 94805, Villejuif, France.; Génomique et Oncogénèse des Tumeurs Cérébrales Pédiatriques, Gustave Roussy Cancer Center and Paris-Saclay University, INSERM U981, Villejuif, France., Boddaert N; Pediatric Radiology Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France.; INSERM U1299, F-75015, Paris, France.; UMR 1163, Institut Imagine, F-75015, Paris, France.; 12 rue de l'École de Médecine, Université Paris Cité, Paris, France., Dangouloff-Ros V; Pediatric Radiology Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France. volodia.dangouloff-ros@aphp.fr.; INSERM U1299, F-75015, Paris, France. volodia.dangouloff-ros@aphp.fr.; UMR 1163, Institut Imagine, F-75015, Paris, France. volodia.dangouloff-ros@aphp.fr.; 12 rue de l'École de Médecine, Université Paris Cité, Paris, France. volodia.dangouloff-ros@aphp.fr.
Jazyk:	angličtina
Zdroj:	European radiology [Eur Radiol] 2024 Dec; Vol. 34 (12), pp. 7765-7775. Date of Electronic Publication: 2024 Jul 09.
DOI:	10.1007/s00330-024-10885-3
Abstrakt:	Background: Children with constitutional mismatch repair deficiency (CMMRD) syndrome have an increased risk of high-grade gliomas (HGG), and brain imaging abnormalities. This study analyzes brain imaging features in CMMRD syndrome children versus those with HGG without CMMRD. Methods: Retrospective comparative analysis of brain imaging in 30 CMMRD children (20 boys, median age eight years, 22 with HGG), seven with Lynch syndrome (7 HGG), 39 with type 1 neurofibromatosis (NF1) (four with HGG) and 50 with HGG without MMR or NF1 pathogenic variant ("no-predisposition" patients). Results: HGG in CMMRD and Lynch patients were predominantly hemispheric (versus midline) compared to NF1 and no-predisposition patients (91% and 86%, vs 25% and 54%, p = 0.004). CMMRD-associated tumors often had ill-defined boundaries (p = 0.008). All CMMRD patients exhibited at least one developmental venous anomaly (DVA), versus 14%, 10%, and 6% of Lynch, NF1, and no-predisposition patients (p < 0.0001). Multiple DVAs were observed in 83% of CMMRD patients, one NF1 patient (3%), and never in other groups (p < 0.0001). Cavernomas were discovered in 21% of CMMRD patients, never in other groups (p = 0.01). NF1-like focal areas of high T2-FLAIR signal intensity (FASI) were more prevalent in CMMRD patients than in Lynch or no-predisposition patients (50%, vs 20% and 0%, respectively, p < 0.0001). Subcortical and ill-limited FASI, possibly involving the cortex, were specific to CMMRD (p < 0.0001) and did not evolve in 93% of patients (13/14). Conclusion: Diffuse hemispherically located HGG associated with multiple DVAs, cavernomas, and NF1-like or subcortical FASI strongly suggests CMMRD syndrome compared to children with HGG in other contexts. Clinical Relevance Statement: The radiologic suggestion of CMMRD syndrome when confronted with HGGs in children may prompt genetic testing. This can influence therapeutic plans. Therefore, imaging features could potentially be incorporated into CMMRD testing recommendations. Key Points: Using imaging to detect CMMRD syndrome early may improve patient care. CMMRD features include: hemispheric HGG with multiple developmental venous anomalies and NF1-like or subcortical areas with high T2-FLAIR intensity. We propose novel imaging features to improve the identification of potential CMMRD patients. Competing Interests: Compliance with ethical standards Guarantor The scientific guarantor of this publication is V.D.R. Conflict of interest The authors of this manuscript declare no relationships with any companies, whose products or services may be related to the subject matter of the article. Statistics and biometry One of the authors has significant statistical expertise. Informed consent Parental agreement on behalf of the patients was prospectively obtained to perform molecular testing of tumor samples. Parental consent for MR imaging analysis was waived for this retrospective observational study. Ethical approval Ethical committee approval was obtained to study the multimodal imaging of children’s brain tumors (EDRACT 2014-A-00541-46). Study subjects or cohorts overlap 26/30 CMMRD patients have been previously published with clinical or biological descriptions, but without in-depth imaging analysis (see Supplementary Table with related published articles). Methodology RetrospectiveObservationalPerformed at three institutions (© 2024. The Author(s), under exclusive licence to European Society of Radiology.)
Databáze:	MEDLINE
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