ID
45977
Descripción
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.
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Versiones (1)
- 2/4/24 2/4/24 - Madita Rudolph
Titular de derechos de autor
Marie-Claude Gingras, PhD, Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA
Subido en
2 de abril de 2024
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000895 Integrated Genomic Analysis of Periampullary Tumors
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases and affection status of the subject. All subjects are patients with adenocarcinomas.
- This subject sample mapping data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains subject ID, disease onset age, gender and race of participant.
- This sample attributes table contains sample ID, histological type, analyte type, tumor status and tumor stage.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases and affection status of the subject. All subjects are patients with adenocarcinomas.
- This subject sample mapping data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains subject ID, disease onset age, gender and race of participant.
- This sample attributes table contains sample ID, histological type, analyte type, tumor status and tumor stage.
C0680251 (UMLS CUI [1,2])
C0001418 (UMLS CUI [1,2])
C0205225 (UMLS CUI [1,3])
C0332155 (UMLS CUI [1,4])
C0021430 (UMLS CUI [2,1])
C0243064 (UMLS CUI [2,2])