Congenital brain tumors are rare accounting for 0.5%–1.9% of all pediatric brain tumors. While different criteria have been used to classify a tumor as congenital, those diagnosed prior to 6 months of age are considered to be “probably” congenital in origin. We performed an institutional review of all central nervous system (CNS) tumors (surgical and autopsy specimens from 1990 to 2019) in patients less than 6 months old. Sixty‐four unique cases were identified, and these accounted for 2.0% of all CNS tumor specimens at our institution. The most common tumor types were high‐grade gliomas, low‐grade gliomas and medulloblastomas. Atypical teratoid rhabdoid tumors, choroid plexus tumors and germ cell tumors also accounted for a significant portion of the cohort. Seven tumors were diagnosed prenatally. The most common clinical presentation at diagnosis was increased head circumference. At the conclusion of the study, over half of the patients were alive including all patients with WHO grade I and II tumors. Ninety‐two percent of cases were classifiable using the 2016 WHO system, and when available, molecular findings supported the histologic diagnoses. However, several gliomas had unusual histologic features and did not correspond to a well‐defined entity. Molecular testing was essential for accurate classification of a subset of these tumors, and several high‐grade gliomas exhibited fusions considered unique to infantile gliomas, including those involving the MET, ALK and NTRK genes. To our knowledge, this cohort represents the largest single‐institution study of congenital CNS tumors and highlights many ways in which congenital CNS tumors are distinct from CNS tumors of older pediatric patients and adults.

中文翻译：

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中枢神经系统先天性肿瘤：对 64 例病例的机构审查，重点是具有独特组织学和分子特征的肿瘤

先天性脑肿瘤罕见，占所有儿科脑肿瘤的 0.5%–1.9%。虽然已使用不同的标准将肿瘤分类为先天性，但那些在 6 个月大之前被诊断出的肿瘤被认为是“很可能”是先天性的。我们对不到 6 个月大的患者的所有中枢神经系统 (CNS) 肿瘤（1990 年至 2019 年的手术和尸检标本）进行了机构审查。确定了 64 个独特的病例，这些病例占我们机构所有 CNS 肿瘤标本的 2.0%。最常见的肿瘤类型是高级别胶质瘤、低级别胶质瘤和成神经管细胞瘤。非典型畸胎样横纹肌瘤、脉络丛肿瘤和生殖细胞肿瘤也占该队列的很大一部分。产前诊断出七个肿瘤。诊断时最常见的临床表现是头围增加。在研究结束时，超过一半的患者还活着，包括所有患有 WHO I 级和 II 级肿瘤的患者。92% 的病例可使用 2016 年 WHO 系统进行分类，并且在可用时，分子学发现支持组织学诊断。然而，一些神经胶质瘤具有不寻常的组织学特征，与定义明确的实体不相符。分子检测对于准确分类这些肿瘤的一个子集至关重要，并且一些高级别神经胶质瘤表现出被认为是婴儿神经胶质瘤独有的融合，包括那些涉及 92% 的病例可使用 2016 年 WHO 系统进行分类，并且在可用时，分子学发现支持组织学诊断。然而，一些神经胶质瘤具有不寻常的组织学特征，与定义明确的实体不相符。分子检测对于准确分类这些肿瘤的一个子集至关重要，并且一些高级别神经胶质瘤表现出被认为是婴儿神经胶质瘤独有的融合，包括那些涉及 92% 的病例可使用 2016 年 WHO 系统进行分类，并且在可用时，分子学发现支持组织学诊断。然而，一些神经胶质瘤具有不寻常的组织学特征，与定义明确的实体不相符。分子检测对于准确分类这些肿瘤的一个子集至关重要，并且一些高级别神经胶质瘤表现出被认为是婴儿神经胶质瘤独有的融合，包括那些涉及MET、ALK和 NTRK 基因。据我们所知，该队列代表了最大的先天性 CNS 肿瘤单一机构研究，并强调了先天性 CNS 肿瘤与老年儿科患者和成人的 CNS 肿瘤不同的许多方面。