Classification of Mutation Characteristics by Whole-Exome Sequencing (WES) in Intraductal Neoplasms of the Bile Duct (IPNB) Patients
试验速览
- 阶段
- 不适用
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Identification of novel genetic contributors to IPNBs
研究概览
简要总结
Intraductal papillary neoplasm of the bile duct (IPNB) is a distinct type of biliary tumor characterised with delicate fibrovascular stalks (papillary of villous) covered at biliary epithelium. The typical pathologic feature is dramatical dilation of affected bile ducts due to obstruction by mucin production. IPNB has a better prognosis than bile duct carcinoma, but the current proposed entity contains multiple definitions or categories, thus confused in pathology.
Although mutations of several genes on IPNBs (such as GNAS, KRAS, APC, CTNNB1, and RNF43) identified in previous studies, there is still an unification at gene expression signature.
This research trial will use whole exome sequencing and subsequent bioinformatic analysis in finding causative mutations in deoxyribonucleic acid (DNA) samples from IPNBs patients.
详细描述
Using production-scale platform, this study will carry out whole exome sequencing from archival (FFPE) material to Identification and classification of significantly mutated genes, determine the somatic genomic alterations that may be relevant to the development or treatment of cancer, establish classification of IPNBs gene mutation signature. Next, analysis of gene mutation signature and IPNBs clinicopathologic outcomes, including the association between pathologic type, long-term oncological outcomes and gene mutation signature. Last, the determination of involved signal pathways at IPNB patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of IPNBs
- •ECOG Performance status of 0, 1, or 2
- •Adequate liver function, bilirubin < 1.5 times ULN, ALT or AST < 2.5 times ULN
- •Adequate renal function: creatinine < 1.8
- •Must be at least 18
排除标准
- •Diagnosis of hepatic mucinous cystadenoma (MCN)
- •Complicated with other Malignancy
- •Pregnancy
结局指标
主要结局
Identification of novel genetic contributors to IPNBs
时间窗: 1 year
Novel genetic abnormalities that are found to be associated with IPNBs via production-scale platform for whole exome sequencing from archival (FFPE) material. The tumor and normal specimens will be obtained from patients with IPNBs who are receiving treatment at Fujian Provincial Hospital, Fujian Medical University Union Hospital and First affiliated Hospital of Fujian Medical University.
Validation of WES outcomes
时间窗: 1 year
To precise determination of mutation signature of WES results by Sanger Sequencing.
Determination of involved signal pathways
时间窗: 1 year
To predict and verify the involved signal pathways by bioinformatics
次要结局
未报告次要终点
研究者
Yaodong Wang
Director of Dept. Hepatobiliary Surgery
Fujian Provincial Hospital