【佳学基因检测】1型神经纤维瘤病的诊断和治疗

小孩发育迟缓查基因有用吗排名

研究肿瘤基因检测中的数据库比对与基因解码了解《Curr Neurol Neurosci Rep》在 2001 Mar;1(2):162-7发表了一篇题目为《1型神经纤维瘤病的诊断和治疗》肿瘤靶向药物治疗基因检测临床研究文章。该研究由B R Korf 等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

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肿瘤靶向治疗基因检测临床应用结果

1型神经纤维瘤病（NF1）是一种常染色体显性遗传疾病，其主要特征是发生多发性神经纤维瘤，这是神经鞘的良性肿瘤。据估计，它影响了 3000 到 4000 个人中的一个。除神经纤维瘤外，还有许多其他临床表现，包括胶质瘤或恶性周围神经鞘瘤等恶性肿瘤，以及骨骼发育不良和学习障碍等非肿瘤效应。诊断建立在临床标准的基础上。分子遗传学检测是可行的，但迄今为止，基因的大尺寸和广泛的致病突变阻碍了临床诊断检测的发展。随着 NF1 基因的鉴定和动物模型的开发，人们对发病机制有了深入的了解。基因产物的主要功能似乎是调节ras蛋白。肿瘤被认为是由 NF1 蛋白功能丧失引起的，这表明 NF1 表现为肿瘤抑制基因。然而，对某些细胞类型的杂合效应也是可能的。 ras 在 NF1 肿瘤发病机制中的作用提出了一种使用 ras 抑制剂的治疗方法，其中一些可能在不久的将来在 NF1 患者的临床试验中开始。

肿瘤发生与复发转移国际数据库描述：

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder whose major feature is the occurrence of multiple neurofibromas, which are benign tumors of the nerve sheath. It affects an estimated one in 3000 to 4000 individuals. In addition to neurofibromas, there are many other clinical manifestations, including malignant tumors such as gliomas or malignant peripheral nerve sheath tumors, and nontumor effects such as skeletal dysplasia and learning disability. Diagnosis is established on the basis of clinical criteria. Molecular genetic testing is feasible, but the large size of the gene and wide range of pathogenic mutations have so far impeded the development of a clinical diagnostic test. Insights into pathogenesis have followed from identification of the NF1 gene and the development of animal models. The major function of the gene product appears to be regulation of the ras protein. Tumors are believed to arise by the loss of function of the NF1 protein, suggesting that NF1 behaves as a tumor suppressor gene. Heterozygous effects on some cell types are also likely, however. The role of ras in the pathogenesis of tumors in NF1 has suggested an approach to treatment using ras inhibitors, some of which are likely to begin in clinical trials in NF1 patients in the near future.