Cerebellar liponeurocytoma (cLNC), categorized as a World Health Organization grade II tumor, is a rare neoplasm characterized by advanced neuronal/neurocytic differentiation and focal lipid accumulation in neuroepithelial tumor cells. However, the expression and genetic profiling of cLNC have been poorly studied. A 44-year-old woman with a three-year history of cerebellar ataxia and numbness in lower extremities underwent radiological examination revealing multiple contrast-enhancing tumors at the floor of the fourth ventricle and in the lower vermis, and spinal dissemination. The high uptake of 11 C-methionine in positron emission tomography (Met-PET) supported the preoperative cLNC diagnosis. Subtotal removal of the tumor around the obex and inferior vermis was performed. Histologically, the tumor was composed of small, uniform cells with round nuclei in a sheet-like fashion. Tumor cells were diffusely reactive for the neuronal markers synaptophysin and neurofilament. Vacuolate cells with a displacement of nuclei suggested the accumulation of lipid, which was further supported by immunohistochemical staining of S-100. These findings confirmed the diagnosis of cLNC. Next-generation sequencing of tumoral DNA detected a splice site mutation in the ATRX gene. Further reports of cLNC cases with detailed expression and genetic profiles are essential for precise diagnosis and clarifying the oncogenic pathway in cLNC.

小脑脂肪神经细胞瘤 (cLNC) 被归类为世界卫生组织 II 级肿瘤，是一种罕见的肿瘤，其特征在于神经上皮肿瘤细胞中的神经元/神经细胞分化和局灶性脂质积累。然而，cLNC 的表达和遗传谱研究很少。一名 44 岁女性，有 3 年小脑共济失调和下肢麻木病史，接受放射学检查，发现第四脑室底部和下蚓部多发增强对比的肿瘤，以及脊柱播散。正电子发射断层扫描 (Met-PET) 中 11 C-甲硫氨酸的高摄取支持术前 cLNC 诊断。对 obex 和下蚓部周围的肿瘤进行了次全切除。组织学上，肿瘤由小的、具有圆形细胞核的均匀细胞，呈片状。肿瘤细胞对神经元标志物突触素和神经丝呈弥漫性反应。S-100 的免疫组织化学染色进一步支持了具有细胞核置换的空泡细胞表明脂质的积累。这些发现证实了 cLNC 的诊断。肿瘤 DNA 的下一代测序检测到剪接位点突变ATRX基因。具有详细表达和遗传谱的 cLNC 病例的进一步报告对于精确诊断和阐明 cLNC 的致癌途径至关重要。