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

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 co...

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Published in:European radiology 2024-12, Vol.34 (12), p.7765-7775
Main Authors: Raveneau, Magali, Guerrini-Rousseau, Léa, Levy, Raphael, Roux, Charles-Joris, Bolle, Stéphanie, Doz, François, Bourdeaut, Franck, Colas, Chrystelle, Blauwblomme, Thomas, Beccaria, Kevin, Tauziède-Espariat, Arnault, Varlet, Pascale, Dufour, Christelle, Grill, Jacques, Boddaert, Nathalie, Dangouloff-Ros, Volodia
Format: Article
Language:English
Subjects:
Abnormalities
Adolescent
Brain
Brain - diagnostic imaging
Brain Neoplasms - diagnostic imaging
Brain tumors
Child
Child, Preschool
Children
Colorectal Neoplasms - diagnostic imaging
Colorectal Neoplasms, Hereditary Nonpolyposis - complications
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnostic imaging
Comparative analysis
Diagnostic Radiology
Female
Genetic screening
Glioma
Glioma - diagnostic imaging
Humans
Imaging
Infant
Internal Medicine
Interventional Radiology
Magnetic Resonance Imaging - methods
Male
Medical imaging
Medicine
Medicine & Public Health
Mismatch repair
Neoplastic Syndromes, Hereditary - complications
Neoplastic Syndromes, Hereditary - diagnostic imaging
Neurofibromatosis
Neuroimaging
Neuroradiology
Patients
Pediatric
Radiology
Retrospective Studies
Ultrasound
Citations: Items that this one cites
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Summary: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  
ISSN:1432-1084
0938-7994
1432-1084
DOI:10.1007/s00330-024-10885-3