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.

Link

dbGaP study = phs000978

Keywords

  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, 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.

pht004942
Description

pht004942

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

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Description

SAMPLE_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C2347026
Sample ID used in the Source Repository
Description

SOURCE_SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Sample Use
Description

SAMPLE_USE

Data type

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

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.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht004942
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_SOURCE
Item
Source repository where samples originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
SOURCE_SAMPLE_ID
Item
Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
Whole genome sequencing (Seq_DNA_WholeGenome)
C3640076 (UMLS CUI [1,1])

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