【佳學基因檢測】術前基因檢測 GNAS 和 KRAS診斷胰腺粘液性囊腫

品牌基因檢測怎么樣排隊

分析腫瘤基因檢測位點的全面性與正確性明白《Clin Cancer Res》在.?2014 Aug 15;20(16):4381-9.發(fā)表了一篇題目為《術前基因檢測 GNAS 和 KRAS診斷胰腺粘液性囊腫》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Aatur D Singhi?,?Marina N Nikiforova?,?Kenneth E Fasanella?,?Kevin M McGrath?,?Reetesh K Pai?,?N Paul Ohori?,?Tanner L Bartholow?,?Randall E Brand?,?Jennifer S Chennat?,?Xuong Lu?,?Georgios I Papachristou?,?Adam Slivka?,?Herbert J Zeh?,?Amer H Zureikat?,?Kenneth K Lee?,?Allan Tsung?,?Geeta S Mantha?,?Asif Khalid?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。

癌癥反復臨床研究內容關鍵詞：

術前,基因檢測,GNAS,KRAS,診斷,胰腺,粘液性囊腫

腫瘤靶向治療基因檢測臨床應用結果

目的：胰腺導管內乳頭狀黏液性腫瘤 (IPMN) 和黏液性囊性腫瘤 (MCN) 的管理指南基于黏液性囊腫可以與其他胰腺囊性病變正確區(qū)分的假設。先前使用手術材料的研究已經確定了胰腺粘液性腫瘤中 GNAS 和 KRAS 的反復性突變。然而，通過內鏡超聲細針穿刺 (EUS-FNA) 獲得的胰腺囊液中兩種基因檢測的診斷效用仍不清楚。 實驗設計：對來自 91 個胰腺的 EUS-FNA 胰腺囊液進行 GNAS 和 KRAS 檢測囊腫：41 個 IPMN，9 個 IPMN 與腺癌，16 個 MCN，10 個囊性胰腺神經內分泌腫瘤（PanNET），9 個漿液性囊腺瘤（SCA），3 個滯留性囊腫，2 個假性囊腫，1 個淋巴上皮囊腫。結果：在 16 個中檢測到 GNAS 突變(39%) IPMNs 和 2 個 (22%) IPMNs 與腺癌。在 28 個 (68%) IPMN、7 個 (78%) 腺癌 IPMN 和 1 個 (6%) MCN 中發(fā)現了 KRAS 突變。 34 個 (83%) IPMN、8 個 (89%) 腺癌 IPMN 和 1 個 (6%) MCN 中存在任一基因的突變。在囊性 PanNET、SCA、滯留囊腫、假性囊腫和淋巴上皮囊腫中未發(fā)現突變。 GNAS 和 KRAS 突變具有 100% 的特異性 [95% 置信區(qū)間 (CI), 0.83-1.00]，但對粘液分化具有 65% 的敏感性 (95% CI, 0.52-0.76)。 IPMNs中，任一基因突變的特異性為98%（95% CI，0.86-1.00），敏感性為84%（95% CI，0.70-0.92）。結論：GNAS和KRAS聯(lián)合檢測對IPMNs具有高度特異性和敏感性;然而，對 MCN 缺乏敏感性凸顯了需要額外的標志物來改善胰腺粘液性腫瘤的檢測。

腫瘤發(fā)生與反復轉移國際數據庫描述：

Purpose:?Management guidelines for pancreatic intraductal papillary mucinous neoplasms (IPMN) and mucinous cystic neoplasms (MCN) are based on the assumption that mucinous cysts can be accurately distinguished from other pancreatic cystic lesions. Previous studies using surgical material have identified recurrent mutations in GNAS and KRAS in pancreatic mucinous neoplasms. Yet, the diagnostic utility of testing for both genes in pancreatic cyst fluid obtained by endoscopic ultrasound-fine-needle aspiration (EUS-FNA) remains unclear.Experimental design:?GNAS and KRAS testing was performed on EUS-FNA pancreatic cyst fluid from 91 pancreatic cysts: 41 IPMNs, 9 IPMNs with adenocarcinoma, 16 MCNs, 10 cystic pancreatic neuroendocrine tumors (PanNET), 9 serous cystadenomas (SCA), 3 retention cysts, 2 pseudocysts, and 1 lymphoepithelial cyst.Results:?Mutations in GNAS were detected in 16 (39%) IPMNs and 2 (22%) IPMNs with adenocarcinoma. KRAS mutations were identified in 28 (68%) IPMNs, 7 (78%) IPMNs with adenocarcinoma, and 1 (6%) MCN. Mutations in either gene were present in 34 (83%) IPMNs, 8 (89%) IPMNs with adenocarcinoma, and 1 (6%) MCN. No mutations were found in cystic PanNETs, SCAs, retention cysts, pseudocysts, and a lymphoepithelial cyst. GNAS and KRAS mutations had 100% specificity [95% confidence interval (CI), 0.83-1.00] but 65% sensitivity (95% CI, 0.52-0.76) for mucinous differentiation. Among IPMNs, mutations in either gene had 98% specificity (95% CI, 0.86-1.00) and 84% sensitivity (95% CI, 0.70-0.92).Conclusions:?The combination of GNAS and KRAS testing was highly specific and sensitive for IPMNs; however, the lack of sensitivity for MCNs highlights the need for additional markers to improve the detection of pancreatic mucinous neoplasms.