Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Department of Radiology, Medical University of Vienna, Vienna, Austria.
Neurosurgery. 2020 Apr 1;86(4):478-484. doi: 10.1093/neuros/nyz148.
Primary intratumoral hemorrhage as a presenting sign is rare in children with medulloblastomas but may result in severe complications. Given the distinct properties of molecular medulloblastoma subgroups, the impact on neurosurgical practice has still to be defined.
To investigate both clinical and radiological presentation of intratumoral hemorrhage in medulloblastoma patients in the context of molecular subgroups.
Data of all consecutive medulloblastoma patients treated at our institution between 1993 and 2018 (n = 104) were retrospectively reviewed in respect of clinical and radiological presentation as well as molecular subgroups. For cases with available tumor tissue (n = 86), subgroups were assigned by either 450 K methylation array or immunohistochemistry and CTNNB1 sequencing. Available imaging at diagnosis (n = 62) was reviewed by an experienced neuroradiologist.
Within the entire cohort, 4 patients (4%) presented with massive spontaneous hemorrhage. Although no patient died as a direct consequence of hemorrhage, all suffered from serious sequelae. Moreover, 3 additional patients displayed radiological evidence of significant hemorrhage. Interestingly, all 7 cases belonged to the wingless (WNT) subgroup (n = 13), resulting in intratumoral hemorrhage in 54% (7/13) of pediatric WNT medulloblastomas. In contrast, significant hemorrhage was absent in all other molecular subgroups.
Our results suggest that a substantial proportion of pediatric WNT medulloblastomas display significant intratumoral hemorrhage at the time of diagnosis. Consequently, the presence of significant hemorrhage in fourth ventricle childhood tumors is suggestive of WNT medulloblastoma and should lead to a less aggressive attempt for total resection in this prognostically favorable tumor type.
作为首发症状的原发性肿瘤内出血在儿童髓母细胞瘤中较为罕见，但可能导致严重并发症。鉴于分子髓母细胞瘤亚组具有明显的特征，其对神经外科实践的影响仍有待确定。
探讨分子亚组中髓母细胞瘤患者肿瘤内出血的临床和影像学表现。
回顾性分析 1993 年至 2018 年期间在我院治疗的所有连续髓母细胞瘤患者（n=104）的临床和影像学表现以及分子亚组数据。对于有肿瘤组织（n=86）的病例，通过 450K 甲基化阵列或免疫组织化学和 CTNNB1 测序来分配亚组。由一名有经验的神经放射科医生对诊断时的可用影像学进行评估（n=62）。
在整个队列中，有 4 例患者（4%）出现自发性大量出血。尽管没有患者直接因出血而死亡，但所有患者都遭受了严重的后遗症。此外，还有 3 例患者出现了明显的影像学出血证据。有趣的是，这 7 例均属于无翅（WNT）亚组（n=13），导致 54%（7/13）的儿童 WNT 髓母细胞瘤出现肿瘤内出血。相比之下，其他所有分子亚组均未出现明显出血。
我们的结果表明，相当一部分儿童 WNT 髓母细胞瘤在诊断时就存在明显的肿瘤内出血。因此，第四脑室儿童肿瘤内存在明显出血提示 WNT 髓母细胞瘤，这可能导致在这种预后良好的肿瘤类型中，全切除的尝试不那么激进。
