Title: Evolution of Advanced Chronic Lymphoid Leukemia Unveiled by Single-Cell Transcriptomics: A Case Report
Authors: Ostašov, Pavel
null, null
Robertson, Henry
Piazza, Paolo
Datta, Avik
Apperley, Jane
Houdová, Lucie
Lysák, Daniel
Holubová, Monika
Tesařová, Kateřina
Caputo, Valentina S.
Barozzi, Iros
Citation: OSTAŠOV, P. ROBERTSON, H. PIAZZA, P. DATTA, A. APPERLEY, J. HOUDOVÁ, L. LYSÁK, D. HOLUBOVÁ, M. TESAŘOVÁ, K. CAPUTO, VS. BAROZZI, I.Evolution of Advanced Chronic Lymphoid Leukemia Unveiled by Single-Cell Transcriptomics: A Case Report. Frontiers in Oncology, 2020, roč. 10, č. OCT 2020, s. 1-9 (article 584607). ISSN 2234-943X.
Issue Date: 2020
Publisher: Frontiers Media
Document type: článek
URI: 2-s2.0-85096052038
ISSN: 2234-943X
Keywords in different language: chronic lymphoid leukemia (CLL);single-cell RNA-seq (scRNA-seq);therapy resistance;disease progression;advanced disease;case report
Abstract in different language: Genetic and transcriptional heterogeneity of Chronic lymphocytic leukaemia (CLL) limits prevention of disease progression. Longitudinal single-cell transcriptomics represents the state-of-the-art method to profile the disease heterogeneity at diagnosis and to inform about disease evolution. Here, we apply single-cell RNA-seq to a CLL case, sampled at diagnosis and relapse, that was treated with FCR (Fludarabine, Cyclophosphamide, Rituximab) and underwent a dramatic decrease in CD19 expression during disease progression. Computational analyses revealed a major switch in clones’ dominance during treatment. The clone that expanded at relapse showed 17p and 3p chromosomal deletions, and up-regulation of pathways related to motility, cytokine signaling and antigen presentation. Single-cell RNA-seq uniquely revealed that this clone was already present at low frequency at diagnosis, and it displays feature of plasma cell differentiation, consistent with a more aggressive phenotype. This study shows the benefit of single-cell profiling of CLL heterogeneity at diagnosis, to identify clones that might otherwise not be recognized and to determine the best treatment options.
Rights: © Frontiers Media
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Please use this identifier to cite or link to this item: http://hdl.handle.net/11025/42923

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