ID

45916

Beschreibung

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

Stichworte

  1. 30.01.24 30.01.24 - Simon Heim
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dbGaP

Hochgeladen am

30. Januar 2024

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000941 Phylogenetic Analyses Reveal Complex Patterns of Melanoma Metastasis

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.

pht004901
Beschreibung

pht004901

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschreibung

SUBJECT_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beschreibung

CONSENT

Datentyp

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Tumor-normal status of the subject
Beschreibung

AFFECTION_STATUS

Datentyp

text

Alias
UMLS CUI [1,1]
C0475752

Ähnliche Modelle

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.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht004901
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Disease-Specific (Melanoma, MDS) (DS-M-MDS) (2)
C0242481 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
Item
Tumor-normal status of the subject
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor-normal status of the subject
CL Item
No tumor (0)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
CL Item
Has tumor (1)
C0475752 (UMLS CUI [1,1])

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