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Targeted resequencing for analysis of clonal composition of recurrent gene mutations in chronic lymphocytic leukaemia
Author(s) -
Jethwa Alexander,
Hüllein Jennifer,
Stolz Tatjana,
Blume Carolin,
Sellner Leopold,
Jauch Anna,
Sill Martin,
Kater Ar P.,
te Raa G. Doreen,
Geisler Christian,
Oers Marinus,
Dietrich Sascha,
Dreger Peter,
Ho Anthony D.,
Paruzynski Anna,
Schmidt Manfred,
Kalle Christof,
Glimm Hanno,
Zenz Thorsten
Publication year - 2013
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12539
Subject(s) - chronic lymphocytic leukemia , somatic evolution in cancer , gene , mutation , biology , genetics , genetic heterogeneity , pathogenesis , phenotype , cancer research , leukemia , immunology
Summary Recurrent gene mutations contribute to the pathogenesis of chronic lymphocytic leukaemia ( CLL ). We developed a next‐generation sequencing (NGS) platform to determine the genetic profile, intratumoural heterogeneity, and clonal structure of two independent CLL cohorts. TP53 , SF3B1 , and NOTCH1 were most frequently mutated (16·3%, 16·9%, 10·7%). We found evidence for subclonal mutations in 67·5% of CLL cases with mutations of cancer consensus genes. We observed selection of subclones and found initial evidence for convergent mutations in CLL . Our data suggest that assessment of (sub)clonal structure may need to be integrated into analysis of the mutational profile in CLL .