【佳學(xué)基因檢測】BRAF 突變、TERT 啟動(dòng)子突變和散發(fā)性或神經(jīng)纖維瘤病相關(guān)神經(jīng)纖維瘤和惡性外周神經(jīng)鞘瘤中的 HER2 擴(kuò)增：這些分子是否具有惡性轉(zhuǎn)化的特征？

上海腫瘤基因檢測機(jī)構(gòu)機(jī)會(huì)

參加學(xué)術(shù)會(huì)議時(shí)，三甲醫(yī)師職稱提升前業(yè)務(wù)培訓(xùn)腫瘤學(xué)時(shí)了解《APMIS》在. 2020 Sep;128(9):515-522.發(fā)表了一篇題目為《BRAF 突變、TERT 啟動(dòng)子突變和散發(fā)性或神經(jīng)纖維瘤病相關(guān)神經(jīng)纖維瘤和惡性外周神經(jīng)鞘瘤中的 HER2 擴(kuò)增：這些分子是否具有惡性轉(zhuǎn)化的特征？》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Sinem Coskun , Mehmet Gamsizkan , Ismail Yilmaz , Ulviye Yalcinkaya , Mehmet Ali Sungur , Seyma Buyucek , Binnur Onal 等完成。促進(jìn)了腫瘤的風(fēng)險(xiǎn)檢測與早期診斷項(xiàng)目的多樣化和全面性，進(jìn)一步強(qiáng)調(diào)了腫瘤發(fā)生合并癥、并發(fā)癥發(fā)生的可能性及基因信息檢測的早知道價(jià)值。

腫瘤靶向藥物及正確治療臨床研究內(nèi)容關(guān)鍵詞：

BRAF,TERT啟動(dòng)子,神經(jīng)纖維瘤病,散發(fā)性

腫瘤靶向治療基因檢測臨床應(yīng)用結(jié)果

周圍神經(jīng)鞘瘤可能偶爾發(fā)生或與神經(jīng)纖維瘤?。∟F）有關(guān)。除非更好地了解 NF 相關(guān)惡性周圍神經(jīng)鞘瘤 (MPNST) 的腫瘤發(fā)生機(jī)制，否則在散發(fā)病例中仍不清楚。我們旨在研究 NF-1 個(gè)體和散發(fā)性個(gè)體的惡性腫瘤的遺傳途徑，為未來的靶向治療開辟道路。我們通過雙 ISH DNA 探針雞尾酒試驗(yàn)、BRAF 突變（外顯子 15）和 TERT 啟動(dòng)子突變頻率分別用 Sanger 測序方法在兩個(gè)研究所的 25 例散發(fā)性神經(jīng)纖維瘤、25 例 NF-1 相關(guān)神經(jīng)纖維瘤和 25 例 MPNST 病例中研究了 HER2 的作用。分類數(shù)據(jù)被分析和總結(jié)為頻率和百分比。采用SPSS v.22統(tǒng)計(jì)軟件包進(jìn)行統(tǒng)計(jì)分析，統(tǒng)計(jì)顯著性水平為0.05。我們僅在一個(gè)散發(fā)性 MPNST (4%) 中發(fā)現(xiàn)了 TERT 啟動(dòng)子突變，并且在任何情況下都沒有 BRAF 突變。在 10/25 (40%) MPNST 病例中發(fā)現(xiàn) HER2 擴(kuò)增。在神經(jīng)纖維瘤中未檢測到突變或基因擴(kuò)增（p < 0.001）。 MPNST 是預(yù)后不良且治療選擇有限的肉瘤。 TERT 啟動(dòng)子突變和 HER2 擴(kuò)增可能在治療目的中發(fā)揮推定作用。 HER2;叔；惡性周圍神經(jīng)鞘瘤； 1型神經(jīng)纖維瘤病。

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

Peripheral nerve sheath tumors may occur sporadically or related to neurofibromatosis (NF). Unless the mechanisms of tumorigenesis in NF related malignant peripheral nerve sheath tumors (MPNST) are better understood, it remained unclear in sporadic cases. We aimed to investigate the genetic route for malignancy in both individuals with NF-1 and sporadic ones to open a way for targeted therapies in the future. We investigated the role of HER2 with Dual ISH DNA Probe Cocktail test, BRAF mutation (exon 15) and TERT promoter mutation frequency with Sanger sequencing method in respectively 25 sporadic neurofibromas, 25 NF-1 related neurofibromas and 25 MPNST cases from two institutes. Categorical data were analyzed and summarized as frequency and percentage. Statistical analysis was done with SPSS v.22 statistical package, and the statistical significance level was considered as 0.05. We identified TERT promoter mutation only in one sporadic MPNST (4%) and no BRAF mutation in any case. HER2 amplification is found in 10/25 (40%) MPNST cases. No mutations or gene amplification detected in neurofibromas (p < 0.001). MPNSTs are sarcomas with poor prognosis and limited treatment options. TERT promoter mutations and HER2 amplification may play a putative role in therapeutic purposes.Keywords: BRAF; HER2; TERT; malignant peripheral nerve sheath tumors; neurofibromatosis type 1.