Integrated Genomic Analysis of Periampullary Tumors at The Human Genome Sequencing Center, Baylor College of Medicine (HGSC-BCM)

Adenocarcinomas arising in the complex environment of the ampulla of Vater constitute a histopathological heterogenous group, presumably originating from the different epithelial cellular constituents present at the site: pancreas, bile duct, and intestinal duodenum. These tumors have been described in many different ways: intra-ampullary, periampullary, intra-ampullary papillary-tubular neoplasm, ampullary-ductal, periampullary-duodenal, and ampullary-not otherwise specified. These varied classifications reflect the difficulty in classifying these tumors into specific groups. Only the tumors clearly localized in the bile duct or duodenum are identified as distal cholangiocarcinomas (CAC) or duodenal adenocarcinomas (DUOAC). The current classification is based on macroscopic features that may distinguish the epithelium of origin, microscopic features, clinicopathological criteria, histopathology and expression of differential markers. This classification is subjective and prone to inter-observer variability and significantly impacts on treatment selection and therapeutic development.

In order to define subtypes of periampullary cancer with clinical relevance, we performed whole exome sequencing and copy number analysis of 160 cancers arising in the periampullary region, 62 of these clearly arising from either the bile duct (n = 44), or the duodenum (n = 18) and 98 periampullary cancers (AMPAC) where the epithelium of origin could not be clearly defined.

• Study Design:
  • Prospective Longitudinal Cohort
• Study Type:
  • Cohort
• Total number of consented subjects: 160
• Subject Sample Telemetry Report (SSTR)

Primary untreated adenocarcinoma. Informed consent for participation in genomic research is required.

• Primary Phenotype: Gastrointestinal Neoplasms

• ELF3

• BioProject
• PubMed
• Sequence Read Archive
• BioSample
• Gene
• PMC

• Principal Investigators
  • Marie-Claude Gingras, PhD. Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA.
  • David Wheeler, PhD. Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA.
• Funding Source
  • 2U54HG003273. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.