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)
- 12/1/23 12/1/23 - Simon Heim
Copyright Holder
Carl Morrison, MD, DVM, Roswell Park Cancer Institute, Buffalo, NY, USA
Uploaded on
December 1, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000978 WGS of a malignant GCT with metabolic response to pazopanib
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.
- 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
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.
- 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.
C0441833 (UMLS CUI [1,2])
C0242481 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])