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透明隔似胚胎发育不良性神经上皮肿瘤样肿瘤:2例1p/19q染色体及异柠檬酸脱氢酶1分析的病例回顾

Dysembryoplastic neuroepithelial tumor-like neoplasm of the septum pellucidum: review of 2 cases with chromosome 1p/19q and IDH1 analysis.

作者信息

Xiong Ji, Liu Ying, Chu Shu-Guang, Chen Hong, Chen Hai-Xia, Mao Ying, Wang Yin

机构信息

Department of Neuropathology, Institute of Neurology, Huashan Hospital of Fudan University, Shanghai, China.

出版信息

Clin Neuropathol. 2012 Jan-Feb;31(1):31-8. doi: 10.5414/np300410.

Abstract

Dysembryoplastic neuroepithelial tumor (DNT)-like neoplasms of the septum pellucidum are extremely rare. We reviewed 2 cases of DNT-like neoplasm of the septum pellucidum and specifically studied the immunohistochemical features and chromosomes 1p and 19q deletions. One case was a 26-year-old woman who complained of aggravated headache for 2 weeks. The other case was a 31-year-old female presenting with double vision for a month. Histological examinations showed that the lesions were composed of uniform oligodendrocytelike cells (OLCs) with obvious floating neurons in a mucin-rich background. Immunohistochemical studies revealed that both tumors were diffusely positive for Synaptophysin and Olig2. Sporadic neurons were clearly positive for NeuN. Loss of chromosome 1p/19q and isocitrate dehydrogenase 1(IDH1) mutations were not identified in both cases. It might indicate that these OLCs of DNT-like neoplasms were genetically different from glial tumors, although they showed close morphological similarities.

摘要

透明隔的胚胎发育不良性神经上皮肿瘤(DNT)样肿瘤极为罕见。我们回顾了2例透明隔DNT样肿瘤,并特别研究了其免疫组化特征以及1号染色体和19号染色体缺失情况。1例为26岁女性,主诉头痛加重2周。另1例为31岁女性,出现复视1个月。组织学检查显示,病变由形态一致的少突胶质细胞样细胞(OLCs)组成,在富含黏蛋白的背景中有明显漂浮的神经元。免疫组化研究显示,这两个肿瘤突触素和少突胶质细胞转录因子2均弥漫性阳性。散在神经元神经元核抗原明显阳性。两例均未发现1号染色体/19号染色体缺失和异柠檬酸脱氢酶1(IDH1)突变。这可能表明,这些DNT样肿瘤的OLCs虽然在形态上有密切相似性,但在基因上与胶质肿瘤不同。

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