Informations:
Erreur:
ID
45891
Description
Principal Investigator: Carl Morrison, MD, DVM, Roswell Park Cancer Institute, Buffalo, NY, USA MeSH: Granular Cell Tumor https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000978 We report one case study of a malignant granular cell tumor patient with metabolic response to pazopanib. In this study, we used whole-genome sequencing of the tumor with the matched blood to characterize the somatic mutation profile in this tumor. This is the first reported whole-genome sequencing study of the rare malignant granular cell tumor.
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Versions (1)
- 01/12/2023 01/12/2023 - Simon Heim
Détendeur de droits
Carl Morrison, MD, DVM, Roswell Park Cancer Institute, Buffalo, NY, USA
Téléchargé le
1 décembre 2023
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000978 WGS of a malignant GCT with metabolic response to pazopanib
Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type, primary tumor location, tumor stage, tumor grade, tumor treatment, genotyping center, sequencing center of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, source subject ID, and affection status of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type, primary tumor location, tumor stage, tumor grade, tumor treatment, genotyping center, sequencing center of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
Similar models
Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type, primary tumor location, tumor stage, tumor grade, tumor treatment, genotyping center, sequencing center of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, source subject ID, and affection status of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type, primary tumor location, tumor stage, tumor grade, tumor treatment, genotyping center, sequencing center of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])
CL Item
Is not a tumor (N)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
C1518422 (UMLS CUI [1,2])
CL Item
Is Tumor (Y)
C0027651 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
string
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])
PRIMARY_METASTATIC_TUMOR
Item
Primary tumor, metastasis, or transformed cell line
string
C0677930 (UMLS CUI [1,1])
C0027627 (UMLS CUI [2,1])
C0007601 (UMLS CUI [3,1])
C0027627 (UMLS CUI [2,1])
C0007601 (UMLS CUI [3,1])
PRIMARY_TUMOR_LOCATION
Item
Primary tumor location
string
C0475447 (UMLS CUI [1,1])
TUMOR_STAGE
Item
Tumor stage of sample
string
C1300072 (UMLS CUI [1,1])
TUMOR_GRADE
Item
Tumor grade of sample
string
C0919553 (UMLS CUI [1,1])
TUMOR_TREATMENT
Item
Type of tumor treatment for sample
string
C0027651 (UMLS CUI [1,1])
C0087111 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])
C0087111 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])
GENOTYPING_CENTER
Item
Name of the center which conducted genotyping
string
C1301943 (UMLS CUI [1,1])
C5575037 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
C5575037 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C1301943 (UMLS CUI [1,1])
C5575037 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
C5575037 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])