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