散发神经鞘瘤22号染色体杂合子丢失

Loss of heterozygosity for markers on 22 chromosome in sporadic schwannoma.

目的 分析神经鞘瘤 2 2号染色体 (CHR2 2 )杂合子丢失及其与临床行为之间的关系。方法 选择 4个具有高度多态性的微卫星标记物 ,通过变性聚丙烯酰胺凝胶、银染观察 3 6例神经鞘瘤CHR2 2杂合子丢失 (LOH)频率 ;以免疫组织化学方法检测Ki 67、PCNA的增殖指数。结果 3 6例神经鞘瘤中 15例发生CHR2 2杂合子丢失 (41.6% ) ,4个微卫星标记物缺失的频率分别为 19.4% (D2 2S2 68)、2 2 .2 % (D2 2S2 64 )、19.4% (D2 2S2 80 )、16.7% (CRYB2 ) ;发生CHR2 2缺失的神经鞘瘤的增殖指数高于无缺失者 (P <0 .0 5 )。结论 CHR2 2杂合子丢失是神经鞘瘤发生中的常发事件 ,缺失的区域包括NF2基因 ,CHR2 2杂合子丢失与听神经瘤的临床行为有一定的关系 ,CHR2

Objective To analyze the loss of heterozygoisty for markers on 22 chromosome and its relationship with clinical features. Methods To investigate the frequency of CHR22 LOH in 36 schwannomas, we selected four highly polymorphic microsatellite DNA markers (D22S264,D22S268,D22S280,CRYB2) by denatured polyacrylamide gels and silver staining. The proliferative index of schwannoma was calculated by Ki 67, PCNA immunohistochemistry. Results Fifteen of 36 patients with sporadic schwannomas (41.6%) showed allele loss. The frequency of these markers were 19.4% for D22S268, 22.2% for D22S264, 19.4% for D22S280 and 16.7% for CRYB 2. The proliferative index of schwannomas with LOH were significantly higher than those without LOH ( P <0.05). In acoustic neuromas, patients with LOH were younger at the age of diagnosis, and larger tumor size, had shorter history and higher growth rate. Conclusions CHR22 LOH was a frequent event in the tumorigenesis of sporadic schwannoma. The presence of CHR22 LOH was related to clinical features.