ID

45916

Beschrijving

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.

Link

dbGaP study=phs000941

Trefwoorden

  1. 30-01-24 30-01-24 - Simon Heim
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dbGaP

Geüploaded op

30 januari 2024

DOI

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Licentie

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.

pht004903
Beschrijving

pht004903

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Beschrijving

SAMPLE_ID

Datatype

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Primary tumor, metastasis, or transformed cell line
Beschrijving

NORMAL_PRIMARY_METASTATIC

Datatype

string

Alias
UMLS CUI [1,1]
C0677930
UMLS CUI [2,1]
C0027627
UMLS CUI [3,1]
C0007601
Site of tumor
Beschrijving

BODY SITE

Datatype

text

Alias
UMLS CUI [1,1]
C0475445
Melanoma
Beschrijving

HISTOLOGICAL TYPE

Datatype

text

Alias
UMLS CUI [1,1]
C0025202
Analyte type [DNA]
Beschrijving

ANALYTE_TYPE

Datatype

text

Alias
UMLS CUI [1,1]
C4744818
UMLS CUI [1,2]
C0012854

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.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht004903
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
NORMAL_PRIMARY_METASTATIC
Item
Primary tumor, metastasis, or transformed cell line
string
C0677930 (UMLS CUI [1,1])
C0027627 (UMLS CUI [2,1])
C0007601 (UMLS CUI [3,1])
BODY SITE
Item
Site of tumor
text
C0475445 (UMLS CUI [1,1])
HISTOLOGICAL TYPE
Item
Melanoma
text
C0025202 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type [DNA]
text
C4744818 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])

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