Mueller W, Eum J-H David, Lass U, Paulus W, Sarkar C, Bruck W, von Deimling A
Institute of Neuropathology, Charité, Humboldt University, Berlin, Germany.
Neuropathol Appl Neurobiol. 2004 Jun;30(3):304-7. doi: 10.1046/j.0305-1846.2004.00538.x.
Choroid plexus carcinomas (CPC) have been shown to carry mutations in the hSNF5/INI1 gene on chromosomal arm 22q11.2. A recent study on choroid plexus papillomas (CPP) and CPC revealed frequent losses of chromosomal portions on the long arm of chromosome 22 (-22q). The region harbouring hSNF5/INI1 was affected in 47% of the CPP and 73% of the CPC, respectively. -22q occurred more frequently in adult than in infantile CPP suggesting different pathogenetic pathways for these tumours. These findings may indicate a potential tumour suppressor gene function of hSNF5/INI1 in a subset of choroid plexus tumours. In order to examine its potential role in the pathogenesis of choroid plexus tumours, we analysed exons 1-9 of hSNF5/INI1 by SSCP analysis in a series of 21 formalin-fixed and paraffin-embedded CPP. No alterations in migratory patterns were detected. These data indicate that somatic point mutations of hSNF5/INI1 do not play a role in the pathogenesis of CPP and that CPP and CPC may arise by two different molecular pathways.
脉络丛癌（CPC）已被证明在染色体22q11.2臂上的hSNF5/INI1基因携带突变。最近一项关于脉络丛乳头状瘤（CPP）和CPC的研究显示，22号染色体长臂（-22q）上的染色体部分频繁缺失。分别有47%的CPP和73%的CPC中含有hSNF5/INI1的区域受到影响。-22q在成人CPP中比在婴儿CPP中更频繁出现，提示这些肿瘤的发病机制不同。这些发现可能表明hSNF5/INI1在一部分脉络丛肿瘤中具有潜在的肿瘤抑制基因功能。为了研究其在脉络丛肿瘤发病机制中的潜在作用，我们通过单链构象多态性分析（SSCP分析）对一系列21例福尔马林固定石蜡包埋的CPP的hSNF5/INI1外显子1-9进行了分析。未检测到迁移模式的改变。这些数据表明，hSNF5/INI1的体细胞点突变在CPP的发病机制中不起作用，并且CPP和CPC可能通过两种不同的分子途径发生。
