Adam Burns - Detection of clinically relevant molecular alterations in CLL by nanopore sequencing
London Calling 2018
Chronic Lymphocytic Leukaemia (CLL) is the most common form of leukaemia in the Western world, and is characterised by both clinical and biological heterogeneity. The majority of CLL patients display few symptoms at diagnosis, after which the disease can progress into either an aggressive, chemo-resistant form with poor prognosis, or a relatively indolent form with a life expectancy similar to that seen in the normal population. The path taken by any particular CLL case is influenced by the presence or absence of a number of specific molecular alterations, including copy number changes such as trisomy 12, del(11q), del(13q) and del(17p), the mutational status of the immunoglobulin heavy chain (IgHV), and the presence of somatic mutations within TP53. As such, identification of these changes is an important part of the treatment decision process. Here I will highlight our work using a combination of targeted and ultra-low coverage whole genome sequencing on the MinION platform, to simplify the detection of these clinically important molecular alterations in CLL.