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

Versions (1)
  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

English

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.

3 forms  
pht004943
Description

pht004943

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

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Description

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Description

ANALYTE_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Description

IS_TUMOR

Data type

text

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample
Description

HISTOLOGICAL_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [2,1]
C2347026
UMLS CUI [2,2]
C0007634
UMLS CUI [2,3]
C0449560
UMLS CUI [3,1]
C1292533
UMLS CUI [3,2]
C0332307
UMLS CUI [4,1]
C1292533
UMLS CUI [4,2]
C0449560
Primary tumor, metastasis, or transformed cell line
Description

PRIMARY_METASTATIC_TUMOR

Data type

string

Alias
UMLS CUI [1,1]
C0677930
UMLS CUI [2,1]
C0027627
UMLS CUI [3,1]
C0007601
Primary tumor location
Description

PRIMARY_TUMOR_LOCATION

Data type

string

Alias
UMLS CUI [1,1]
C0475447
Tumor stage of sample
Description

TUMOR_STAGE

Data type

string

Alias
UMLS CUI [1,1]
C1300072
Tumor grade of sample
Description

TUMOR_GRADE

Data type

string

Alias
UMLS CUI [1,1]
C0919553
Type of tumor treatment for sample
Description

TUMOR_TREATMENT

Data type

string

Alias
UMLS CUI [1,1]
C0027651
UMLS CUI [1,2]
C0087111
UMLS CUI [1,3]
C0370003
Name of the center which conducted genotyping
Description

GENOTYPING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C1285573
Name of the center which conducted sequencing
Description

SEQUENCING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C1561491
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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.

3 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht004943
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
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])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
IS_TUMOR
Code List
Tumor status
CL Item
Is not a tumor (N)
C0027651 (UMLS CUI [1,1])
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])
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])
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])
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])
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])
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