In the past few years the cost of next generation sequencing decreased substantially and the technology has significantly matured, allowing for its introduction into clinical practice. For most haematological disease entities whole genome and/or exome sequencing efforts identified a core set of recurrently mutated genes. Several of these genes are expected to be included in the upcoming revision of the 2008 edition of the World Health Organisation classification of haematological malignancies. Next generation sequencing technology allows transforming current single gene mutation analysis into multiplexed mutational profiling. Next generation ‘deep’ sequencing is a promising new tool to monitor minimal disease burden and to detect mutations within malignant subclones. With current platforms point mutations can be detected with a sensitivity of 1–5% mutant DNA. For indel mutations or clonal IG/TCR rearrangements sensitivity in the range of 10−5 can be reached. In this review we will highlight the opportunities and challenges of the introduction of next generation sequencing technology into a setting where it will contribute significantly to individual patient cancer management.
(BELG J HEMATOL 2016;7(2):63–8)