ID
45445
Description
Principal Investigator: Kevin White, PhD, University of Chicago, Chicago, IL, USA MeSH: Leukemia, Myeloid, Acute,Neoplasm, therapy related,Monosomy 7 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000759 Patients with myeloid malignancies bearing high-risk cytogenetic abnormalities lack effective therapies and have a poor overall survival. -7/del(7q) is identified in half of high-risk myeloid neoplasms. We recently identified *CUX1* to be a haploinsufficient myeloid tumor suppressor gene located within the commonly deleted segment of 7q22. Here we identify the spectrum of somatic mutations that co-occur with loss of *CUX1* and chromosome 7 in patients with *de novo* acute myeloid leukemia (AML) or a therapy-related myeloid neoplasm. -7/del(7q) leukemias have a distinct mutational profile characterized by low frequencies of alterations in major leukemogenic pathways, including genes encoding transcription factors, cohesin, and DNA-methylation-related proteins. In contrast, RAS pathway activating mutations occurred in 40% of -7/del(7q) samples, a significantly higher frequency than other AMLs and higher than previously reported. As targeted therapeutics advance, our data provide guidance for which pathways are most relevant in the treatment of adverse-risk myeloid leukemia.
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Versions (1)
- 12/7/22 12/7/22 - Chiara Middel
Copyright Holder
Kevin White, PhD, University of Chicago, Chicago, IL, USA
Uploaded on
December 7, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000759 Spectrum of Mutations in Myeloid Neoplasms
The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- StudyEvent: SEV1
- The subject consent data table contains subject IDs, consent information, and subject aliases. All subjects are affected with de novo acute myeloid leukemia (AML) or a therapy-related myeloid neoplasm.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes gender of participant, disease onset age, leukemia type, primary disease, and percentage of blasts in tumor sample.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, and sequencing center.
Similar models
The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- StudyEvent: SEV1
- The subject consent data table contains subject IDs, consent information, and subject aliases. All subjects are affected with de novo acute myeloid leukemia (AML) or a therapy-related myeloid neoplasm.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes gender of participant, disease onset age, leukemia type, primary disease, and percentage of blasts in tumor sample.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, and sequencing center.
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])