ID
45322
Description
Principal Investigator: Matthew Meyerson, MD, PhD, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, MA, USA MeSH: Intestinal Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000579 The diagnosed incidence of small bowel neuroendocrine tumors (NETs) is increasing. While patients with localized disease can be treated surgically, those with metastatic disease currently have few treatment options. The success of biologically targeted therapies in other malignancies has led to interest in the molecular alterations underlying the pathogenesis of these NETs. To identify genetic aberrations in small intestine NETs, we generated copy number profiles from 31 primary and metastatic tumors and performed whole-exome sequencing on a subset of 29 primary small intestine NETs and 24 metastatic NETs in parallel with normal blood DNA. Whole-genome sequencing data was generated on 15 tumor/normal pairs and 5 primary/metastasis/normal trios. The global genetic landscape of small bowel NETs is relatively quiet. Consistent with previous studies, the overwhelming majority of tumors were characterized by loss of chromosome 18 and, to a lesser extent, other chromosome arm gains and losses. In stark contrast to arm-level alterations, recurrent high-level focal amplifications and deletions were much less prevalent in these tumors. High-throughput mutation screening and exome sequencing revealed similarly low rates of somatic mutation in NETs (median of 0.77 non-silent mutations per megabase (Mb) of coding DNA) compared to other recent cancer exome sequencing efforts. Our analysis of this cohort identified only a single, statistically significant recurrent somatic mutation targeting the cyclin-dependent kinase inhibitor gene, CDKN1B, encoding p27.
Lien
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000579
Mots-clés
Versions (2)
- 27/10/2022 27/10/2022 - Simon Heim
- 13/12/2022 13/12/2022 - Kristina Keller
Détendeur de droits
Matthew Meyerson, MD, PhD, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, MA, USA
Téléchargé le
27 octobre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000579 Small Intestine Neuroendocrine Tumors (Carcinoid Tumors)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, source subject ID, and affection status of participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
- Subject ID, age, sex, and primary disease of participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
- Sample ID, body site where sample was collected, tumor status of sample, percent of tumor cells in samples obtained from participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, source subject ID, and affection status of participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
- Subject ID, age, sex, and primary disease of participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
- Sample ID, body site where sample was collected, tumor status of sample, percent of tumor cells in samples obtained from participants with small bowel neuroendocrine tumors and involved in the "Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)" project.
C0030664 (UMLS CUI [1,2])
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C0752046 (UMLS CUI [2,2])
C5237802 (UMLS CUI [2,3])
C1705241 (UMLS CUI [2,4])
C0680251 (UMLS CUI [3,1])
C4319199 (UMLS CUI [3,2])
C5236167 (UMLS CUI [3,3])