ID
45742
Description
Principal Investigator: Michael Dean, PhD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Leukemia, Lymphocytic, Chronic, B-Cell https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001181 Chronic lymphocytic leukemia (CLL) is a frequent B-cell malignancy characterized by recurrent somatic chromosome alterations and a low level of point mutations. Here we present single nucleotide polymorphism (SNP) microarray analyses of a single CLL patient over 29-years of observation and treatment, and transcriptome and whole genome sequencing at selected timepoints. We identified chromosome alterations of 13q14-, 6q- and 12q+ in early cell clones, elimination of clonal populations following therapy, and subsequent appearance of a clone containing trisomy 12 and a chromosome 10 copy neutral loss of heterogeneity (LOH) that marks a major population dominant at death. Serial single cell RNA sequencing revealed elevated mRNA expression of the FOS, JUN and KLF4 genes just before the appearance of acute disease requiring therapy. This gene expression pattern became undetectable following therapy, but reoccurred following relapse. Transcriptome evolution indicates that complex expression changes occur over time. In conclusion, CLL can evolve gradually during indolent phases, and undergo rapid changes following therapy.
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Versions (1)
- 6/2/23 6/2/23 - Chiara Middel
Copyright Holder
Michael Dean, PhD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Uploaded on
June 2, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001181 Single-Cell DNA and RNA Sequencing over A 29-Year Period of A CLL Patient
The subject consent file includes subject IDs, consent information, and case control status of the subject for chronic lymphocytic leukemia.
- StudyEvent: SEV1
- The subject consent file includes subject IDs, consent information, and case control status of the subject for chronic lymphocytic leukemia.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are 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 use.
- This subject phenotype table contains subject IDs, disease and gender of the subject.
- This sample attributes table contains sample IDs, the year when the sample was collected, histological type, body site where sample was collected, analyte type, and tumor status.
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The subject consent file includes subject IDs, consent information, and case control status of the subject for chronic lymphocytic leukemia.
- StudyEvent: SEV1
- The subject consent file includes subject IDs, consent information, and case control status of the subject for chronic lymphocytic leukemia.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are 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 use.
- This subject phenotype table contains subject IDs, disease and gender of the subject.
- This sample attributes table contains sample IDs, the year when the sample was collected, histological type, body site where sample was collected, analyte type, and tumor status.
C2348585 (UMLS CUI [1,2])