【佳學基因檢測】節(jié)段性神經(jīng)纖維瘤病

病理基因檢測合理性

學習聽到《Dermatology》在.?2002;204(4):296-7.發(fā)表了一篇題目為《節(jié)段性神經(jīng)纖維瘤病》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Erwin S Schultz,?Dieter Kaufmann,?Sigrid Tinschert,?Hermann Schell,?Peter von den Driesch,?Gerold Schuler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)容關鍵詞：

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腫瘤靶向治療基因檢測臨床應用結果

節(jié)段性神經(jīng)纖維瘤病的特點是皮膚神經(jīng)纖維瘤病 1 型 (NF1) 病變的節(jié)段性分布有限。有人提出，節(jié)段性 NF 是由合子后 NF1 基因突變引起的，賊近，這一假設已在一名患有區(qū)域分布的牛奶咖啡 (CAL) 斑點和雀斑的患者身上得到證實，證明了 NF1 微缺失僅限于培養(yǎng)的成纖維細胞來自 CAL 點。我們在這里描述了一名患有節(jié)段性 NF 的患者，其中我們無法通過使用蛋白質截短測試、酶促突變檢測和熒光原位雜交來證明從神經(jīng)纖維瘤培養(yǎng)的成纖維細胞中存在任何 NF1 基因突變。這些數(shù)據(jù)與許旺細胞中的 NF1 突變而非成纖維細胞中的突變與神經(jīng)纖維瘤形成相關的概念一致。

腫瘤發(fā)生與反復轉移國際數(shù)據(jù)庫描述：

Segmental neurofibromatosis is characterised by a limited, segmental distribution of cutaneous neurofibromatosis type 1 (NF1) lesions. It has been suggested that segmental NF results from a postzygotic NF1 gene mutation, and, recently, this hypothesis has been proven in a patient with regionally distributed café-au-lait (CAL) spots and freckles by demonstrating an NF1 microdeletion restricted to fibroblasts cultured from CAL spots. We describe here a patient with segmental NF in which we could not demonstrate any NF1 gene mutation in fibroblasts cultured from neurofibromas by use of the protein truncation test, enzymatic mutation detection and fluorescence in situ hybridisation. These data are in line with the concept that NF1 mutations in Schwann cells, but not in fibroblasts, correlate with neurofibroma formation.