| Literature DB >> 24032483 |
Alexander Jethwa1, Jennifer Hüllein, Tatjana Stolz, Carolin Blume, Leopold Sellner, Anna Jauch, Martin Sill, Arnon P Kater, G Doreen te Raa, Christian Geisler, Marinus van Oers, Sascha Dietrich, Peter Dreger, Anthony D Ho, Anna Paruzynski, Manfred Schmidt, Christof von Kalle, Hanno Glimm, Thorsten Zenz.
Abstract
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.Entities:
Keywords: NOTCH1; SF3B1; TP53; chronic lymphocytic leukaemia; convergent mutation
Mesh：
Year: 2013 PMID： 24032483 DOI： 10.1111/bjh.12539
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998