Whole-Exome Sequencing (WES) of Intraductal Neoplasms of the Bile Duct (IPNB) (WESIPNB)

Classification of Mutation Characteristics by Whole-Exome Sequencing (WES) in Intraductal Neoplasms of the Bile Duct (IPNB) Patients

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.

Study Overview

• Status: Unknown
• Conditions: Bile Duct Neoplasms; Intraductal Papillary Mucinous Neoplasm

Detailed Description

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.

• Study Type: Observational
• Enrollment (Anticipated): 60

Contacts and Locations

Study Locations

• China
  • Fujian
    • Fuzhou, Fujian, China, 350001
      • Yaodong Wang

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 80 years (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

60 cases

Description

Inclusion Criteria:

• 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

Exclusion Criteria:

• Diagnosis of hepatic mucinous cystadenoma (MCN)
• Complicated with other Malignancy
• Pregnancy

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
IPNB; intraductal papillary neoplasm of the bile duct

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of novel genetic contributors to IPNBs	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.	1 year
Validation of WES outcomes	To precise determination of mutation signature of WES results by Sanger Sequencing.	1 year
Determination of involved signal pathways	To predict and verify the involved signal pathways by bioinformatics	1 year

Collaborators and Investigators

• Sponsor: Fujian Provincial Hospital
• Collaborators: First Affiliated Hospital of Fujian Medical University; Fujian Medical University Union Hospital
• Investigators: Principal Investigator: Yaodong Wang, Prof, Fujian Provincial Hospital

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): February 15, 2019
• Primary Completion (ANTICIPATED): June 30, 2019
• Study Completion (ANTICIPATED): December 31, 2019

Study Registration Dates

• First Submitted: January 13, 2019
• First Submitted That Met QC Criteria: February 11, 2019
• First Posted (ACTUAL): February 12, 2019

Study Record Updates

• Last Update Posted (ACTUAL): February 12, 2019
• Last Update Submitted That Met QC Criteria: February 11, 2019
• Last Verified: February 1, 2019

More Information

Terms related to this study

• Keywords: Whole-exome Sequencing; intraductal papillary neoplasms of the bile duct; mutation characteristics
• Additional Relevant MeSH Terms: Digestive System Diseases; Neoplasms by Site; Digestive System Neoplasms; Biliary Tract Diseases; Bile Duct Diseases; Biliary Tract Neoplasms; Neoplasms; Bile Duct Neoplasms
• Other Study ID Numbers: Fujian Provincial Hospital

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No