Department of Neurosurgery, University of Occupational and Environmental Health, Yahatanishi-ku, Kitakyushu, Fukuoka, Japan.
Brain Tumor Pathol. 2012 Apr;29(2):113-20. doi: 10.1007/s10014-011-0069-6. Epub 2011 Nov 2.
We report a very unusual case of a composite high-grade glioma and rhabdoid tumor in an adult. A 22-year-old woman presented with scintillating scotoma due to a solid tumor with surrounding brain edema in the right occipital lobe. The tumor was grossly resected. Histological examinations showed that the tumor was mainly composed of INI1-positive high-grade glioma tissue containing an INI1-negative rhabdoid component. She received radiation therapy and chemotherapy. Three months after the surgery, she again complained of visual disturbances, and tumor recurrence within the resection cavity was noted. A second operation was performed. The findings of histological examinations of the surgical specimen obtained during the second surgery were completely different from those of the specimen obtained during the initial surgery. Only the rhabdoid component showed remarkable proliferation and did not express INI1. Diffuse dissemination along the craniospinal axis eventually progressed, and she died 5 months after the initial diagnosis. We suggest that the inactivation of the INI1 gene affects potent proliferation activity and resistance to both chemotherapy and radiation therapy.
我们报告了一例非常罕见的成人复合型高级别胶质瘤和横纹肌样肿瘤。一名 22 岁女性因右侧枕叶有实性肿瘤伴周围脑水肿而出现闪烁性暗点。肿瘤行大体全切除。组织学检查显示肿瘤主要由 INI1 阳性高级别胶质瘤组织组成，其中含有 INI1 阴性横纹肌样成分。患者接受了放疗和化疗。术后 3 个月，她再次出现视力障碍，发现切除腔内肿瘤复发。行二次手术。第二次手术获得的手术标本的组织学检查结果与初次手术时的标本完全不同。只有横纹肌样成分表现出明显的增殖，并且不表达 INI1。沿着颅脊轴的弥漫性播散最终进展，患者在初始诊断后 5 个月死亡。我们建议 INI1 基因失活影响了强烈的增殖活性以及对化疗和放疗的耐药性。
