Detection of clinically relevant molecular alterations in Chronic Lymphocytic Leukaemia by Nanopore sequencing
)
Chronic lymphocytic leukaemia (CLL) is the most prevalent form of leukaemia in the Western world, and displays considerable biological and clinical heterogeneity. CLL can progress into either an aggressive, chemo-resistant form with poor prognosis, or an indolent form with a similar life-expectancy to that of the general population. A number of prognostic markers, in particular IgHV mutation status, mutations in the TP53 gene and deletions of the p-arm of chromosome 17, can be used to predict a patient’s response to individual chemo-therapeutics and give an indication as to their long-term prognosis. Clinical guidelines recommend screening patients prior to the initial, and any subsequent, rounds of treatment. Current screening methods involve three separate assays, each of which is time-consuming and requires significant investment in equipment. Nanopore sequencing offers a rapid, low-cost alternative, with the potential to generate a full prognostic dataset in a single assay.