患有体质错配修复缺陷（CMMRD）综合征的儿童患高级别胶质瘤（HGG）和脑成像异常的风险增加。本研究分析了 CMMRD 综合征儿童与患有 HGG 但不患有 CMMRD 的儿童的脑成像特征。对 30 名 CMMRD 儿童（20 名男孩，中位年龄 8 岁，22 名患有 HGG）、7 名患有林奇综合征（7 名 HGG）、 39 名患有 1 型神经纤维瘤病 (NF1)（4 名患有 HGG），50 名患有 HGG，无 MMR 或 NF1 致病性变异（“无易感性”患者）。与 NF1 和无致病性变异相比，CMMRD 和 Lynch 患者中的 HGG 主要为半球（相对于中线） -易感患者（91% 和 86%，vs 25% 和 54%，p = 0.004）。 CMMRD 相关肿瘤的边界通常不明确 (p = 0.008)。所有 CMMRD 患者均表现出至少一种发育性静脉异常 (DVA)，而 Lynch、NF1 和无倾向患者的这一比例为 14%、10% 和 6%（p<0.0001）。 83% 的 CMMRD 患者观察到多次 DVA，一名 NF1 患者 (3%) 观察到多次 DVA，其他组从未观察到 (p<0.0001)。 21% 的 CMMRD 患者发现海绵状血管瘤，其他组从未发现 (p = 0.01)。与 Lynch 或无易感性患者相比，CMMRD 患者中高 T2-FLAIR 信号强度 (FASI) 的 NF1 样局灶性区域更为普遍（分别为 50%、20% 和 0%，p<0.0001）。皮质下和病灶性 FASI，可能累及皮质，是 CMMRD 特有的 (p< 0.0001)，并且在 93% 的患者 (13/14) 中没有发展。弥漫性位于半球的 HGG 与多发性 DVA、海绵状血管瘤和 NF1-相关与其他情况下患有 HGG 的儿童相比，类似或皮层下 FASI 强烈提示 CMMRD 综合征。当儿童遇到 HGG 时，放射学提示 CMMRD 综合征可能会提示进行基因检测。这可能会影响治疗计划。因此，影像学特征有可能被纳入 CMMRD 测试建议中。使用影像学早期检测 CMMRD 综合征可能会改善患者护理。 CMMRD 特征包括：具有多个发育性静脉异常的半球 HGG 以及具有高 T2-FLAIR 强度的 NF1 样或皮层下区域。我们提出了新颖的成像特征来改善潜在 CMMRD 患者的识别。© 2024。作者，获得欧洲放射学会的独家许可。

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.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).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).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.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.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.© 2024. The Author(s), under exclusive licence to European Society of Radiology.