Takahashi Kenta, Tsuda Masumi, Kanno Hiromi, Murata Junichi, Mahabir Roshan, Ishida Yusuke, Kimura Taichi, Tanino Mishie, Nishihara Hiroshi, Nagashima Kazuo, Tanaka Shinya
Department of Cancer Pathology, Hokkaido University Graduate School of Medicine, N15, W7 Kita-Ku, Sapporo, Hokkaido, Japan,
Brain Tumor Pathol. 2014 Apr;31(2):118-23. doi: 10.1007/s10014-013-0158-9. Epub 2013 Aug 24.
Small cell glioblastoma is a histological subtype of glioblastoma with characteristic features of highly proliferative, monotonous small glial cells with high nuclear cytoplasm ratio. Morphologically, malignant lymphoma or small cell metastatic carcinoma should be carefully discriminated. Some cases are difficult to differentiate from anaplastic oligodendroglioma. In this report, we present a case of small cell glioblastoma of an elderly man. The lack of IDH1/2 mutation was confirmed by immunohistochemistry and direct sequencing. Fluorescence in situ hybridization revealed the lower rates of chromosome 1p and 19q deletion. Microsatellite analysis disclosed partial 10q alteration near the PTEN locus. Not only morphological and immunohistochemical examinations, but also cytogenetical investigations for IDH1/2 mutation, 1p/19q loss, and PTEN alteration, are strongly supportive methods for the differential diagnosis of small cell glioblastoma and anaplastic oligodendroglioma.
小细胞胶质母细胞瘤是胶质母细胞瘤的一种组织学亚型，其特征为具有高度增殖性、核质比高的单一性小胶质细胞。在形态学上，应仔细鉴别恶性淋巴瘤或小细胞转移癌。有些病例难以与间变性少突胶质细胞瘤区分。在本报告中，我们呈现了一例老年男性小细胞胶质母细胞瘤病例。通过免疫组织化学和直接测序证实缺乏异柠檬酸脱氢酶1/2（IDH1/2）突变。荧光原位杂交显示1号染色体短臂（1p）和19号染色体长臂（19q）缺失率较低。微卫星分析揭示了磷酸酶和张力蛋白同源物（PTEN）基因座附近10号染色体长臂（10q）的部分改变。不仅形态学和免疫组织化学检查，而且针对IDH1/2突变、1p/19q缺失和PTEN改变的细胞遗传学研究，都是小细胞胶质母细胞瘤和间变性少突胶质细胞瘤鉴别诊断的有力支持方法。
