ArticleBritish journal of haematology2016
Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments.
Article in British journal of haematology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 23 citations in OpenAlex.
- The morphology of CLL revisited: the clinical significance of prolymphocytes and correlations with prognostic/molecular markers in the LRF CLL4 trial.British journal of haematology · 2016Trial
- Chronic lymphocytic leukemia with IGH/BCL2 fusion and clonal heterogeneity: phenotypic and molecular profiling analysis of a rare case.Annals of hematology · 2026Article
- Dynamic stimulation promotes functional tissue-like organization of a 3D human lymphoid microenvironment model in vitro.Cell reports methods · 2025Article
- The immune microenvironment shapes transcriptional and genetic heterogeneity in chronic lymphocytic leukemia.Blood advances · 2023Article
- Single-Cell Sequencing: Ariadne's Thread in the Maze of Acute Myeloid Leukemia.Diagnostics (Basel, Switzerland) · 2022Review
- Article
- Mechanism for IL-15-Driven B Cell Chronic Lymphocytic Leukemia Cycling: Roles for AKT and STAT5 in Modulating Cyclin D2 and DNA Damage Response Proteins.Journal of immunology (Baltimore, Md. : 1950) · 2019Article
- Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia.Scientific reports · 2019Article
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19 authors at 3 institutions in 2 countries.
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Abstract
Whole exome sequencing and copy number aberration (CNA) analysis were performed on cells taken from peripheral blood (PB) and lymph nodes (LN) of patients with chronic lymphocytic leukaemia (CLL). Of 64 non-silent somatic mutations, 54 (84·4%) were clonal in both compartments, 3 (4·7%) were PB-specific and 7 (10·9%) were LN-specific. Most of the LN- or PB-specific mutations were subclonal in the other corresponding compartment (variant frequency 0·5-5·3%). Of 41 CNAs, 27 (65·8%) were shared by both compartments and 7 (17·1%) were LN- or PB-specific. Overall, 6 of 9 cases (66·7%) showed genomic differences between the compartments. At subsequent relapse, Case 10, with 6 LN-specific lesions, and Case 100, with 6 LN-specific and 8 PB-specific lesions, showed, in the PB, the clonal expansion of LN-derived lesions with an adverse impact: SF3B1 mutation, BIRC3 deletion, del8(p23·3-p11·1), del9(p24·3-p13·1) and gain 2(p25·3-p14). CLL shows an intra-patient clonal heterogeneity according to the disease compartment, with both LN and PB-specific mutations/CNAs. The LN microenvironment might contribute to the clonal selection of unfavourable lesions, as LN-derived mutations/CNAs can appear in the PB at relapse.
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