ID

45977

Description

Principal Investigator: Marie-Claude Gingras, PhD, Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000895 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.

Link

dbGaP study=phs000895

Keywords

  1. 4/2/24 4/2/24 - Madita Rudolph
Copyright Holder

Marie-Claude Gingras, PhD, Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA

Uploaded on

April 2, 2024

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000895 Integrated Genomic Analysis of Periampullary Tumors

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