Debiec-Rychter M, Jesionek-Kupnicka D, Zakrzewski K, Liberski P P
Laboratory of Tumor Biology, Medical School of Lodz, Poland.
Cancer Genet Cytogenet. 1999 Feb;109(1):29-33. doi: 10.1016/s0165-4608(98)00140-x.
Cytogenetic analysis of subependymal giant-cell astrocytomas (SEGAs) from two patients presenting the clinical symptoms of tuberous sclerosis complex (TSC) revealed clonal chromosomal changes, resulting in the partial loss of chromosome 22q in both tumors. Immunohistochemically, tumors exhibited features of glial differentiation, while ultrastructural studies identified the characteristic paracrystalline inclusions within the tumor cells. To our knowledge, it is the first cytogenetic description of SEGAs associated with TSC.
对两名表现出结节性硬化症（TSC）临床症状的患者的室管膜下巨细胞星形细胞瘤（SEGA）进行细胞遗传学分析，发现了克隆性染色体变化，导致两个肿瘤中22号染色体长臂部分缺失。免疫组织化学显示，肿瘤具有神经胶质分化特征，而超微结构研究在肿瘤细胞内发现了特征性的副晶状包涵体。据我们所知，这是与TSC相关的SEGA的首次细胞遗传学描述。
