ID
45597
Descripción
Principal Investigator: Catherine Wu, Dana-Farber Cancer Institute, Boston, MA, USA MeSH: Leukemia, Lymphoid https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001372 Intratumoral genetic heterogeneity has been characterized across cancers by genome sequencing of bulk tumors, including chronic lymphocytic leukemia (CLL). In order to more accurately identify subclones, define phylogenetic relationships, and probe genotype-phenotype relationships, we developed methods for targeted mutation detection in DNA and RNA isolated from thousands of single cells from five CLL samples. By clearly resolving phylogenic relationships, we uncovered mutated LCP1 and WNK1 as novel CLL drivers, supported by functional evidence demonstrating their impact on CLL pathways. Integrative analysis of somatic mutations with transcriptional states prompts the idea that convergent evolution generates phenotypically similar cells in distinct genetic branches, thus creating a cohesive expression profile in each CLL sample despite the presence of genetic heterogeneity. Our study highlights the potential for single-cell RNA-based targeted analysis to sensitively determine transcriptional and mutational profiles of individual cancer cells leading to increased understanding of driving events in malignancy. Reprinted from Genome Research, with permission from Publisher.
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Versiones (1)
- 7/2/23 7/2/23 - Simon Heim
Titular de derechos de autor
Catherine Wu, Dana-Farber Cancer Institute, Boston, MA, USA
Subido en
7 de febrero de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs001372 Integrated Single-Cell Analysis in Chronic Lymphocytic Leukemia
Subject ID, affection status, and consent group of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- StudyEvent: SEV1
- Subject ID, affection status, and consent group of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- Subject ID, sample ID, and sample use of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- Subject ID, age, ethnicity, and gender of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- Sample ID, analyte type, body site where sample was obtained, DFC ID, histological type, and tumor status of samples obtained from participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
Similar models
Subject ID, affection status, and consent group of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- StudyEvent: SEV1
- Subject ID, affection status, and consent group of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- Subject ID, sample ID, and sample use of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- Subject ID, age, ethnicity, and gender of participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
- Sample ID, analyte type, body site where sample was obtained, DFC ID, histological type, and tumor status of samples obtained from participants with chronic lymphocytic leukemia and involved in the "Integrated Single-Cell Genetic and Transcriptional Analysis Suggests Novel Drivers of Chronic Lymphocytic Leukemia" project.
C2348585 (UMLS CUI [1,2])
C0441833 (UMLS CUI [1,2])
C0242481 (UMLS CUI [1,2])