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目的 建立嗅神经母细胞瘤 (ENB)的基因畸变模型并分析其特征。方法 采用对比基因杂交 (CGH)技术对 12例原发、3例复发、7例转移ENB标本进行基因检测 ,用特殊软件系统对所采集照片的荧光信号进行量化分析 ,确定肿瘤DNA与正常对照DNA之间的基因差别。结果 ENB常见DNA丢失主要见于 1p、2q、3p/q、4p/q、5p/q、6q、8p/q、9p、10p/q、11p、12q、13q、18q和 2 1q ,DNA过度表达见于 1p、7q、9q、11q、14q、16p/q、17p/q、19p/q、2 0p/q和 2 2p/q。ENB的 1p2 1 p31DNA丢失与该类肿瘤患者预后差有明显相关性。死于ENB的患者均具有以下共性 :1p2 1 p31DNA丢失、临床分期为C或D期、分化程度低 (Ⅲ或Ⅳ级 )。对 4例发生转移、复发的患者 ,将检测结果与其原发病灶基因畸变情况进行对比分析表明 ,转移、复发病灶与其原发病灶间具有高度的克隆一致性。结论 采用CGH能建立ENB的典型基因畸变模型 ,该模型有助于解释此肿瘤的生物学特性并对其预后进行评估 ,并与神经母细胞瘤、小细胞肺癌以及头颈部鳞癌进行鉴别。
Objective To establish a gene aberration model of olfactory neuroblastoma (ENB) and analyze its characteristics. Methods 12 cases of primary, 3 cases of recurrent and 7 cases of metastatic ENB were detected by CGH. The fluorescence signals of the collected samples were quantified by special software system to determine the relationship between tumor DNA and normal control DNA The difference between the genes. Results DNA loss in ENB was mainly found in 1p, 2q, 3p / q, 4p / q, 5p / q, 6q, 8p / q, 9p, 10p / q, 11p, 12q, 13q, 18q and 2 1q. 1p, 7q, 9q, 11q, 14q, 16p / q, 17p / q, 19p / q, 20p / q and 22p / q. The 1p21 p31DNA loss in ENB was significantly associated with poor prognosis in this group of patients. Patients who died of ENB had the following common features: loss of 1p21 p31DNA, clinical stage C or D, and poorly differentiated (grade III or IV). In 4 cases of patients with metastasis and recurrence, the results of the test were compared with those of the original lesion. The results showed that there was a high degree of clonal consistency between the metastatic and recurrent lesions and their primary lesion. Conclusion CGH can establish a typical gene aberration model of ENB. This model can help explain the biological characteristics of this tumor and evaluate its prognosis. It is also identified with neuroblastoma, small cell lung cancer and head and neck squamous cell carcinoma.