【佳学基因检测】术前基因检测 GNAS 和 KRAS诊断胰腺粘液性囊肿

品牌基因检测怎么样排队

分析肿瘤基因检测位点的全面性与准确性明白《Clin Cancer Res》在. 2014 Aug 15;20(16):4381-9.发表了一篇题目为《术前基因检测 GNAS 和 KRAS诊断胰腺粘液性囊肿》肿瘤靶向药物治疗基因检测临床研究文章。该研究由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。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

癌症复发临床研究内容关键词：

术前,基因检测,GNAS,KRAS,诊断,胰腺,粘液性囊肿

肿瘤靶向治疗基因检测临床应用结果

目的：胰腺导管内乳头状黏液性肿瘤 (IPMN) 和黏液性囊性肿瘤 (MCN) 的管理指南基于黏液性囊肿可以与其他胰腺囊性病变准确区分的假设。先前使用手术材料的研究已经确定了胰腺粘液性肿瘤中 GNAS 和 KRAS 的复发性突变。然而，通过内镜超声细针穿刺 (EUS-FNA) 获得的胰腺囊液中两种基因检测的诊断效用仍不清楚。 实验设计：对来自 91 个胰腺的 EUS-FNA 胰腺囊液进行 GNAS 和 KRAS 检测囊肿：41 个 IPMN，9 个 IPMN 与腺癌，16 个 MCN，10 个囊性胰腺神经内分泌肿瘤（PanNET），9 个浆液性囊腺瘤（SCA），3 个滞留性囊肿，2 个假性囊肿，1 个淋巴上皮囊肿。结果：在 16 个中检测到 GNAS 突变(39%) IPMNs 和 2 个 (22%) IPMNs 与腺癌。在 28 个 (68%) IPMN、7 个 (78%) 腺癌 IPMN 和 1 个 (6%) MCN 中发现了 KRAS 突变。 34 个 (83%) IPMN、8 个 (89%) 腺癌 IPMN 和 1 个 (6%) MCN 中存在任一基因的突变。在囊性 PanNET、SCA、滞留囊肿、假性囊肿和淋巴上皮囊肿中未发现突变。 GNAS 和 KRAS 突变具有 100% 的特异性 [95% 置信区间 (CI), 0.83-1.00]，但对粘液分化具有 65% 的敏感性 (95% CI, 0.52-0.76)。 IPMNs中，任一基因突变的特异性为98%（95% CI，0.86-1.00），敏感性为84%（95% CI，0.70-0.92）。结论：GNAS和KRAS联合检测对IPMNs具有高度特异性和敏感性;然而，对 MCN 缺乏敏感性凸显了需要额外的标志物来改善胰腺粘液性肿瘤的检测。

肿瘤发生与复发转移国际数据库描述：

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.