【佳學(xué)基因檢測】NF1基因與神經(jīng)纖維瘤病1

基因檢測多少錢解析

閱讀認(rèn)識(shí)到《Am J Epidemiol》在?2000 Jan 1;151(1):33-40發(fā)表了一篇題目為《NF1基因與神經(jīng)纖維瘤病1》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由S A Rasmussen,?J M Friedman等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)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

神經(jīng)纖維瘤病 1 (NF1)，也稱為馮雷克林豪森病，是由位于染色體 17q11.2 的 NF1 基因突變引起的常染色體顯性遺傳病。 NF1 被認(rèn)為是有效滲透的，但在特征的表達(dá)上會(huì)發(fā)生很大的變化。 NF1的診斷基于既定的臨床標(biāo)準(zhǔn)。許多臨床特征的表現(xiàn)與年齡有關(guān)。 NF1患者的平均預(yù)期壽命可能減少10-15年，惡性腫瘤是賊常見的死亡原因。在大多數(shù)基于人群的研究中，臨床診斷的 NF1 的患病率范圍為 1/2,000 至 1/5,000。已在 NF1 患者中發(fā)現(xiàn)了多種 NF1 突變，但尚未發(fā)現(xiàn)經(jīng)常發(fā)生的突變。大多數(shù)研究沒有發(fā)現(xiàn)特定的 NF1 突變與由此產(chǎn)生的臨床表現(xiàn)之間存在明顯的關(guān)系。 NF1 表型的變異性，即使在具有相同 NF1 基因突變的個(gè)體中，也表明其他因素參與確定臨床表現(xiàn)，但這些因素的性質(zhì)尚未確定。 NF1 突變的實(shí)驗(yàn)室測試很困難。蛋白質(zhì)截短測試是可商購的，但其敏感性、特異性和預(yù)測價(jià)值尚未確定。尚未對(duì) NF1 突變進(jìn)行一般的、基于人群的分子研究。目前，基于人群的 NF1 臨床特征篩查的好處似乎不會(huì)超過篩查的成本。

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

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features is age dependent. The average life expectancy of patients with NF1 is probably reduced by 10-15 years, and malignancy is the most common cause of death. The prevalence of clinically diagnosed NF1 ranges from 1/2,000 to 1/5,000 in most population-based studies. A wide variety of NF1 mutations has been found in patients with NF1, but no frequently recurring mutation has been identified. Most studies have not found an obvious relation between particular NF1 mutations and the resulting clinical manifestations. The variability of the NF1 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are involved in determining the clinical manifestations, but the nature of these factors has not yet been determined. Laboratory testing for NF1 mutations is difficult. A protein truncation test is commercially available, but its sensitivity, specificity, and predictive value have not been established. No general, population-based molecular studies of NF1 mutations have been performed. At this time, it appears that the benefits of population-based screening for clinical features of NF1 would not outweigh the costs of screening.