ID

44950

Description

The implementation of targeted therapies for acute myeloid leukemia has been challenged by complex mutational patterns within and across patients as well as a dearth of pharmacologic agents for most mutational events. Here, we report initial findings from the Beat AML program on a cohort of 672 tumor specimens collected from 562 patients. We assessed these specimens using whole exome sequencing, RNA-sequencing, and ex vivo drug sensitivity analyses. Our data reveal novel mutational events not previously detected in AML. We show association of drug response with mutational status, including instances of drug sensitivity that are specific to combinatorial mutational events. Integration with RNA-sequencing also revealed gene expression signatures, which predict a role of specific gene networks in drug response. Collectively, this report offers a dataset, accessible by the Beat AML data viewer, that can be leveraged to address clinical, genomic, transcriptomic, and functional inquiries into the biology of AML. NCT 01728402 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001657.v1.p1

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001657.v1.p1

Keywords

Versions (8)
  1. 4/27/22 4/27/22 - Martin Dugas
  2. 4/27/22 4/27/22 - Martin Dugas
  3. 4/27/22 4/27/22 - Martin Dugas
  4. 4/27/22 4/27/22 - Martin Dugas
  5. 5/12/22 5/12/22 - Martin Dugas
  6. 5/12/22 5/12/22 - Martin Dugas
  7. 10/12/22 10/12/22 - Adrian Schulz
  8. 6/22/23 6/22/23 - Dr. Christian Niklas
Copyright Holder

Jeffrey W. Tyner, PhD. Oregon Health and Science University, Knight Cancer Institute, Portland, OR, USA

Uploaded on

May 12, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001657 Functional Genomic Landscape of Acute Myeloid Leukemia

English

Functional Genomic Landscape of Acute Myeloid LeukemiaNCT 01728402dbGaP Study Accession: phs001657.v1

1 forms  
Subject ID, consent group, and affection status of participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
Description

Subject ID, consent group, and affection status of participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.

De-identified subject ID
Description

SUBJECT_ID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
Consent group as determined by DAC
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C1547872
Case control status of the subject for leukemia [Case=subjects with acute myeloid leukemia; Control=subjects without acute myeloid leukemia]
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646
Subject ID, sample ID, and sample use variable participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
Description

Subject ID, sample ID, and sample use variable participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.

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
Sample Use
Description

SAMPLE_USE

Data type

string

Sample ID, analyte type, and tumor status of samples obtained from participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
Description

Sample ID, analyte type, and tumor status of samples obtained from participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.

De-identified sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C4684638
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
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Similar models

Functional Genomic Landscape of Acute Myeloid LeukemiaNCT 01728402dbGaP Study Accession: phs001657.v1

1 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Subject ID, consent group, and affection status of participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
SUBJECT_ID
Item
De-identified subject ID
text
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
Item
Consent group as determined by DAC
text
C1547872 (UMLS CUI [1,1])
CONSENT
Code List
Consent group as determined by DAC
CL Item
Disease-Specific (Leukemia) (DS-LEU) (1)
Item
Case control status of the subject for leukemia [Case=subjects with acute myeloid leukemia; Control=subjects without acute myeloid leukemia]
text
C3274646 (UMLS CUI [1,1])
AFFECTION_STATUS
Code List
Case control status of the subject for leukemia [Case=subjects with acute myeloid leukemia; Control=subjects without acute myeloid leukemia]
CL Item
Case (1)
CL Item
Control (2)
Item Group
Subject ID, sample ID, and sample use variable participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_USE
Item
Sample Use
string
Item Group
Sample ID, analyte type, and tumor status of samples obtained from participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
SAMPLE_ID
Item
De-identified sample ID
string
C1299222 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
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 normal (N)
CL Item
Is tumor (Y)
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