Department of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Hirakata City, Osaka, 573-1010, Japan.
Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Osaka, Japan.
Childs Nerv Syst. 2021 Mar;37(3):977-982. doi: 10.1007/s00381-020-04725-0. Epub 2020 Jun 18.
Medulloblastoma is the second-most common malignant tumor in children. Medulloblastoma has been categorized into four distinct molecular subgroups: WNT, sonic hedgehog (SHH), group 3, and group 4. We report on a male child with medulloblastoma, in whom an enlarged ventricle was diagnosed in utero. Magnetic resonance imaging showed cyst formation in the cerebellar hemisphere initially, with tumor growth being indicated later. Tumor resection was performed when the boy was 12 months old. The histological findings showed extensive nodularity. Further genetic analysis revealed the tumor to be SHH type. This is the first description of a medulloblastoma observed from the fetal stage. Our findings in this case indicate that cyst formation may be the pre-neoplastic lesion of SHH-subtype medulloblastomas.
髓母细胞瘤是儿童中第二常见的恶性肿瘤。髓母细胞瘤已被分为四个不同的分子亚群:WNT、 sonic hedgehog(SHH)、group 3 和 group 4。我们报告了一例男性髓母细胞瘤患儿,该患儿在子宫内被诊断为脑室扩大。磁共振成像最初显示小脑半球形成囊肿,随后肿瘤生长。当男孩 12 个月大时进行了肿瘤切除术。组织学发现显示广泛的结节性。进一步的基因分析显示肿瘤为 SHH 型。这是首例从胎儿期观察到的髓母细胞瘤描述。我们在该病例中的发现表明,囊肿形成可能是 SHH 型髓母细胞瘤的癌前病变。