【佳學(xué)基因檢測】基因檢測ANRIL非編碼 RNA在 1 型神經(jīng)纖維瘤病叢狀神經(jīng)纖維瘤發(fā)生中的作用

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比較腫瘤的基因組學(xué)特征與治療方案設(shè)計(jì)做了備注《J Natl Cancer Inst》在.?2011 Nov 16;103(22):1713-22.發(fā)表了一篇題目為《基因檢測ANRIL非編碼 RNA在 1 型神經(jīng)纖維瘤病叢狀神經(jīng)纖維瘤發(fā)生中的作用》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Eric Pasmant?,?Audrey Sabbagh,?Julien Masliah-Planchon,?Nicolas Ortonne,?Ingrid Laurendeau,?Lucie Melin,?Salah Ferkal,?Lucie Hernandez,?Karen Leroy,?Laurence Valeyrie-Allanore,?Béatrice Parfait,?Dominique Vidaud,?Ivan Bièche,?Laurent Lantieri,?Pierre Wolkenstein,?Michel Vidaud,?NF France Network等完成。促進(jìn)了腫瘤的正確治療與個性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測與分析的重要性。

腫瘤藥物有效性臨床研究內(nèi)容關(guān)鍵詞：

非編碼RNA,腫瘤發(fā)生,易感性,高分辨率,叢狀神經(jīng)纖維瘤,基因座

腫瘤靶向治療基因檢測臨床應(yīng)用結(jié)果

非編碼RNA與腫瘤發(fā)生的研究背景：1 型神經(jīng)纖維瘤病 (NF1) 是一種腫瘤易感綜合征，在全球新出生嬰兒中的發(fā)病率為 2500 分之一。與 NF1 基因座無關(guān)的遺傳因素被認(rèn)為會影響 NF1 患者的叢狀神經(jīng)纖維瘤 (PNF) 的數(shù)量。但在基因檢測數(shù)據(jù)庫中沒有任何已被確定的基因位點(diǎn)。叢狀神經(jīng)纖維瘤數(shù)量的基因檢測方法：佳學(xué)基因使用來自 18 名 NF1 患者的 22 個叢狀神經(jīng)纖維瘤 (PNF)組織的高分辨率陣列比較基因組雜交來識別參與叢狀神經(jīng)纖維瘤 (PNF) 發(fā)展的修飾基因。神經(jīng)科腫瘤基因檢測項(xiàng)目對來自306個家庭的1105 名受試者（740 名 NF1 患者和 365 名非受影響的親屬）進(jìn)行致病基因鑒定基因解碼基因檢測。為了確認(rèn) rs2151280 的功能作用，腦部腫瘤基因檢測項(xiàng)目組使用實(shí)時(shí)定量逆轉(zhuǎn)錄聚合酶鏈反應(yīng)（PCR技術(shù)）來分析細(xì)胞周期蛋白依賴性激酶抑制劑 2A (CDKN2A)、CDKN2B、交替閱讀框 (ARF) 和反義非編碼 RNA 在124 名 NF1 患者外周血中的 INK4 基因座 (ANRIL)。 CDKN2A、CDKN2B、ARF 和 ANRIL 表達(dá)與 rs2151280 基因型之間的關(guān)系通過 Kruskal-Wallis 檢驗(yàn)進(jìn)行測試。所有的統(tǒng)計(jì)檢驗(yàn)都是雙向的。神經(jīng)纖維瘤基因檢測研究結(jié)果：在 NF1 相關(guān)的叢狀神經(jīng)纖維瘤 (PNF)基因檢測中，發(fā)現(xiàn) 9p21.3 缺失（包括 CDKN2A/B-ANRIL 基因座）是少有的反復(fù)性體細(xì)胞改變。單核苷酸多態(tài)性 rs2151280（位于 ANRIL）與 NF1 患者的叢狀神經(jīng)纖維瘤 (PNF)數(shù)量有統(tǒng)計(jì)學(xué)顯著相關(guān)性（P < .001）。此外，rs2151280 基因檢測后的基因型等位基因 T 與 ANRIL 轉(zhuǎn)錄水平降低具有統(tǒng)計(jì)學(xué)顯著相關(guān)性（P < .001），表明 ANRIL 表達(dá)的調(diào)節(jié)介導(dǎo)了 PNF 易感性。結(jié)論：鑒定 ANRIL 作為 NF1 中的修飾基因可能為分子生物學(xué)研究提供線索PNFs 的發(fā)病機(jī)制，特別是神經(jīng)纖維瘤的形成，并強(qiáng)調(diào)了大型非編碼 RNA 在激活腫瘤發(fā)展的關(guān)鍵調(diào)節(jié)因子中的意外作用。

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

Background:?Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome with a worldwide birth incidence of one in 2500. Genetic factors unrelated to the NF1 locus are thought to influence the number of plexiform neurofibromas (PNFs) in patients with NF1, but no factors have been identified to date.Methods:?We used high-resolution array comparative genomic hybridization of tissue from 22 PNFs obtained from 18 NF1 patients to identify modifier genes involved in PNF development. We used a family-based association test for five previously identified cancer-susceptibility tag single-nucleotide polymorphisms (rs1063192, rs2151280, rs2218220, rs10757257, and rs7023329) located in chromosomal region 9p21.3 in 1105 subjects (740 NF1 patients and 365 non-affected relatives) from 306 families. To confirm the functional role of rs2151280, we used real-time quantitative reverse transcription-polymerase chain reaction to analyze the expression of cyclin-dependent kinase inhibitor 2A (CDKN2A), CDKN2B, alternate reading frame (ARF), and antisense noncoding RNA in the INK4 locus (ANRIL) in the peripheral blood of 124 NF1 patients. Relationships between CDKN2A, CDKN2B, ARF, and ANRIL expression and the rs2151280 genotype were tested by the Kruskal-Wallis test. All statistical tests were two-sided.Results:?In NF1-associated PNFs, 9p21.3 deletions (including the CDKN2A/B-ANRIL locus) were found as the only recurrent somatic alterations. Single-nucleotide polymorphism rs2151280 (located in ANRIL) was statistically significantly associated with the number of PNFs (P < .001) in NF1 patients. In addition, allele T of rs2151280 was statistically significantly associated with reduced ANRIL transcript levels (P < .001), suggesting that modulation of ANRIL expression mediates PNF susceptibility.Conclusion:?Identification of ANRIL as a modifier gene in NF1 may offer clues to the molecular pathogenesis of PNFs, particularly neurofibroma formation, and emphasizes the unanticipated role of large noncoding RNA in activation of critical regulators of tumor development.