ID
45916
Description
Principal Investigator: MeSH: Melanoma,Neoplasm Metastasis,Phylogeny https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000941 Subpopulations of cells in a primary melanoma can disseminate and establish metastases. Still, the precise ancestral relationship between primary tumors and their metastases is not well understood. Using whole-exome sequencing (for discovery) and targeted sequencing (for validation), we analyzed mutation patterns of primary melanomas and two or more metastases in each of 8 patients to determine their phylogenetic relationships, profiling a total of 31 total tumors. The resulting data show that in 6 of 8 cases, genetically unique cell populations in the primary metastasized in parallel to distinct anatomic sites, rather than sequentially. These data also indicate that individual metastases were sometimes founded by multiple cell populations of the primary that were genetically distinct.
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Keywords
Versions (1)
- 1/30/24 1/30/24 - Simon Heim
Copyright Holder
dbGaP
Uploaded on
January 30, 2024
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000941 Phylogenetic Analyses Reveal Complex Patterns of Melanoma Metastasis
Sample ID, primary tumor, metastasis, or transformed cell line, site of tumor, histological type [melanoma], analyte type [DNA] of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
- StudyEvent: SEV1
- Subject ID, consent group, and affection status of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
- Subject ID, sample ID, and sample use variable obtained from participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
- Sample ID, primary tumor, metastasis, or transformed cell line, site of tumor, histological type [melanoma], analyte type [DNA] of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
Similar models
Sample ID, primary tumor, metastasis, or transformed cell line, site of tumor, histological type [melanoma], analyte type [DNA] of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
- StudyEvent: SEV1
- Subject ID, consent group, and affection status of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
- Subject ID, sample ID, and sample use variable obtained from participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
- Sample ID, primary tumor, metastasis, or transformed cell line, site of tumor, histological type [melanoma], analyte type [DNA] of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.
C1299222 (UMLS CUI [1,2])
C0027627 (UMLS CUI [2,1])
C0007601 (UMLS CUI [3,1])
C0012854 (UMLS CUI [1,2])