Bile Duct Neoplasms Clinical Trial
Official title:
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.
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. ;
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