|Title:||Evolution of Advanced Chronic Lymphoid Leukemia Unveiled by Single-Cell Transcriptomics: A Case Report|
Caputo, Valentina S.
|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.|
|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|
|Appears in Collections:||Články / Articles (NTIS)|
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