【佳學(xué)基因檢測】1型神經(jīng)纖維瘤病的診斷和治療

小孩發(fā)育遲緩查基因有用嗎排名

研究腫瘤基因檢測中的數(shù)據(jù)庫比對與基因解碼了解《Curr Neurol Neurosci Rep》在?2001 Mar;1(2):162-7發(fā)表了一篇題目為《1型神經(jīng)纖維瘤病的診斷和治療》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由B R Korf?等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調(diào)了基因信息檢測與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究內(nèi)容關(guān)鍵詞：

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腫瘤靶向治療基因檢測臨床應(yīng)用結(jié)果

1型神經(jīng)纖維瘤?。∟F1）是一種常染色體顯性遺傳疾病，其主要特征是發(fā)生多發(fā)性神經(jīng)纖維瘤，這是神經(jīng)鞘的良性腫瘤。據(jù)估計，它影響了 3000 到 4000 個人中的一個。除神經(jīng)纖維瘤外，還有許多其他臨床表現(xiàn)，包括膠質(zhì)瘤或惡性周圍神經(jīng)鞘瘤等惡性腫瘤，以及骨骼發(fā)育不良和學(xué)習障礙等非腫瘤效應(yīng)。診斷建立在臨床標準的基礎(chǔ)上。分子遺傳學(xué)檢測是可行的，但迄今為止，基因的大尺寸和廣泛的致病突變阻礙了臨床診斷檢測的發(fā)展。隨著 NF1 基因的鑒定和動物模型的開發(fā)，人們對發(fā)病機制有了深入的了解?；虍a(chǎn)物的主要功能似乎是調(diào)節(jié)ras蛋白。腫瘤被認為是由 NF1 蛋白功能喪失引起的，這表明 NF1 表現(xiàn)為腫瘤抑制基因。然而，對某些細胞類型的雜合效應(yīng)也是可能的。 ras 在 NF1 腫瘤發(fā)病機制中的作用提出了一種使用 ras 抑制劑的治療方法，其中一些可能在不久的將來在 NF1 患者的臨床試驗中開始。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國際數(shù)據(jù)庫描述：

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.