【佳學基因檢測】基因檢測結果：與子宮內膜癌和卵巢癌相關的致癌事件在子宮內膜異位癥中很少見

腫瘤基因檢測公司關注的原因

比較癌癥的早期發(fā)現(xiàn)及檢測《腫瘤基因易感位點列表及發(fā)生率分析》《Mol Hum Reprod》在.?2011 Dec;17(12):758-61.發(fā)表了一篇題目為《基因檢測結果：與子宮內膜癌和卵巢癌相關的致癌事件在子宮內膜異位癥中很少見》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Anna L Vestergaard?,?Katrine Thorup,?Ulla B Knudsen,?Torben Munk,?Hanne Rosbach,?Jesper B Poulsen,?Per Guldberg,?Pia M Martensen等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調了基因信息檢測與分析的重要性。

腫瘤的遺傳阻斷臨床研究內容關鍵詞：

子宮內膜移位癥,基因突變,甲基化,特異性熔解曲線,原癌基因,腫瘤抑制基因

腫瘤靶向治療基因檢測臨床應用結果

子宮內膜異位癥表現(xiàn)出一些類似于惡性過程的特征，包括侵襲性生長、抗細胞凋亡和遠處植入。子宮內膜移位癥突變基因檢測研究的目的是調查子宮內膜癌和/或卵巢癌中常見的基因突變是否有助于子宮內膜異位癥的發(fā)病機制?；顧z取自 23 名修訂后的美國生育力評分 1 期（n=1）、2（n=10）、3（n=11）或 4（n=1）子宮內膜異位癥患者的異位子宮內膜異位病灶。使用甲基化特異性熔解曲線基因檢測分析六個基因（APC、CDKN2A、PYCARD、RARB、RASSF1 和 ESR1）的啟動子高甲基化，以及 9 個基因（BRAF、HRAS、NRAS、CTNNB1、CDK4、FGFR3、PIK3CA、TP53 和 PTEN）使用變性梯度凝膠電泳和直接測序分析突變。在單個病變中檢測到 KRAS 的致癌突變（c.34G > T；p.G12C）。在其余樣本中未發(fā)現(xiàn)基因改變。子宮內膜移位癥突變基因檢測研究的數(shù)據(jù)表明，導致子宮內膜癌和卵巢癌的遺傳和表觀遺傳事件在子宮內膜異位癥中很少見。然而，應檢測其他原癌基因和腫瘤抑制基因的改變，以確定子宮內膜異位癥對惡性轉化的易感性的分子基礎。

腫瘤發(fā)生與反復轉移國際數(shù)據(jù)庫描述：

Endometriosis displays some features that resemble malignant processes, including invasive growth, resistance to apoptosis and distant implantation. The objective of this study was to investigate whether gene alterations that are frequent in endometrial and/or ovarian cancers contribute to the pathogenesis of endometriosis. Biopsies were obtained from ectopic endometriosis lesions from 23 patients with revised American Fertility Score stage 1 (n= 1), 2 (n= 10), 3 (n= 11) or 4 (n= 1) endometriosis. Six genes (APC, CDKN2A, PYCARD, RARB, RASSF1 and ESR1) were analyzed for promoter hypermethylation using methylation-specific melting curve analysis, and 9 genes (BRAF, HRAS, NRAS, CTNNB1, CDK4, FGFR3, PIK3CA, TP53 and PTEN) were analyzed for mutations using denaturing gradient gel electrophoresis and direct sequencing. An oncogenic mutation in KRAS (c.34G > T; p.G12C) was detected in a single lesion. No gene alterations were found in the remaining samples. Our data suggest that genetic and epigenetic events contributing to endometrial and ovarian cancers are rare in endometriosis. However, other proto-oncogenes and tumor suppressor genes should be tested for alterations in order to identify the molecular basis of the susceptibility of endometriosis to malignant transformation.