Chadarévian Jean-Pierre de, Legido Agustin, Halligan Gregory E, Faerber Eric N, Piatt Joseph H, Morrissette Jennifer D, Ara Jahan, Grant Mitzie L, Katsetos Christos D
Department of Pathology and Laboratory Medicine, Drexel University College of Medicine and St. Christopher's Hospital for Children, Philadelphia, PA, USA.
J Child Neurol. 2012 Apr;27(4):511-20. doi: 10.1177/0883073811419315. Epub 2011 Sep 21.
Gliomatosis confined to the cerebellum is most unusual. We report such a case in a 20-month-old male who presented with unsteadiness. Magnetic resonance imaging revealed a diffuse area of abnormal signal intensity within both cerebellar hemispheres, which did not enhance after contrast administration. The patient underwent a biopsy, which revealed a diffuse glioma infiltrating the cerebellum. Overall, the tumor cells had oligodendroglioma-like features and exhibited only focal vimentin immunoreactivity. They were negative for glial fibrillary acidic protein, synaptophysin, βIII-tubulin, and neurofilament protein. Immunofluorescence, performed on primary biopsy explants maintained in cell culture without exposure to growth factors or differentiation-promoting agents, revealed widespread nestin immunoreactivity and immunolabeling of occasional cells with antibodies to platelet-derived growth factor-α and O1/O4, markers of oligodendrocyte precursor-cells and immature oligodendrocytes, respectively. Fluorescent in situ hybridization performed on explants, touch preparations, and paraffin sections failed to reveal loss of heterozygosity for either 1p36 or 19q13. The patient was treated with temozolomide and remains stable, albeit with residual quiescent tumor, more than 3 years after surgery. This report calls attention to an unusual presentation of gliomatosis confined to the cerebellum of a toddler and addresses salient aspects of clinical and radiological differential diagnosis, as well as therapeutic challenges encountered.
局限于小脑的胶质瘤病极为罕见。我们报告了一例20个月大男性患者，该患者表现为步态不稳。磁共振成像显示双侧小脑半球内有一个弥漫性异常信号强度区域，注射造影剂后无强化。患者接受了活检，结果显示为弥漫性胶质瘤浸润小脑。总体而言，肿瘤细胞具有少突胶质细胞瘤样特征，仅表现出局灶性波形蛋白免疫反应性。它们对胶质纤维酸性蛋白、突触素、βIII微管蛋白和神经丝蛋白呈阴性。在未暴露于生长因子或分化促进剂的细胞培养中对原发性活检外植体进行免疫荧光检测，发现广泛的巢蛋白免疫反应性，并偶尔用抗血小板衍生生长因子-α和O1/O4抗体对细胞进行免疫标记，这两种抗体分别是少突胶质细胞前体细胞和未成熟少突胶质细胞的标志物。对外植体、触片和石蜡切片进行荧光原位杂交，未发现1p36或19q13的杂合性缺失。患者接受替莫唑胺治疗，术后3年多病情保持稳定，尽管仍有残留的静止肿瘤。本报告提请注意一名幼儿局限于小脑的胶质瘤病的不寻常表现，并阐述了临床和放射学鉴别诊断的突出方面以及所遇到的治疗挑战。
