Clinical trial NCT03838913: Whole-Exome Sequencing (WES) of Intraductal Neoplasms of the Bile Duct (IPNB)
Official title: Classification of Mutation Characteristics by Whole-Exome Sequencing (WES) in Intraductal Neoplasms of the Bile Duct (IPNB) Patients
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Bile Duct Neoplasms
Intraductal Papillary Mucinous Neoplasm
Keywords: Whole-exome Sequencing
intraductal papillary neoplasms of the bile duct
mutation characteristics
Lead sponsor: Fujian Provincial Hospital
Sponsor class: OTHER
Collaborators: name: Fujian Medical University Union Hospital
name: First Affiliated Hospital of Fujian Medical University
First posted: 2019-02-12
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 60 cases

Brief summary: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Identification of novel genetic contributors to IPNBs
timeFrame: 1 year
measure: Validation of WES outcomes
timeFrame: 1 year
measure: Determination of involved signal pathways
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Fuzhou
country: China
facility: Yaodong Wang
state: Fujian
Study officials:
affiliation: Fujian Provincial Hospital
name: Yaodong Wang, Prof
role: PRINCIPAL_INVESTIGATOR
References: