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Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments.

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.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Del Giudice I,Marinelli M,Wang J,Bonina S,Messina M,Chiaretti S,Ilari C,Cafforio L,Raponi S,Mauro FR,Di Maio V,De Propris MS,Nanni M,Ciardullo C,Rossi D,Gaidano G,Guarini A,Rabadan R,Foà R

doi

10.1111/bjh.13859

subject

Has Abstract

pub_date

2016-02-01 00:00:00

pages

371-383

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

172

pub_type

杂志文章,多中心研究

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