Understanding myeloid disorders with next-generation sequencing

Tuesday 24 January 2017
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In this white paper, the team from the Haemato-Oncology section of the West Midlands Regional Genetics Laboratory (WMRGL) of Birmingham Women’s NHS Foundation Trust in the UK discuss the introduction of a SureSeq NGS cancer panel, highlighting the ease of adoption and two occasions where mutations missed by digital droplet PCR (ddPCR) were picked up by the NGS panel...

Introduction

In the past decade, the advent of next-generation sequencing (NGS) has revolutionised the world of genetic research and is now beginning to impact on clinical testing. The introduction of targeted sequencing – a technique that specifically focuses on sequencing regions associated with causal mutations – has improved speed and accuracy of genetic analysis.

The team from West Midlands Regional Genetics
Laboratory (WMRGL) of the Birmingham Women’s NHS
Foundation Trust, UK.One of the centres where NGS has been introduced alongside conventional tools for genetic analysis is the West Midlands Regional Genetics Laboratory (WMRGL) of the Birmingham Women’s NHS Foundation Trust in the UK. It is the largest genetic laboratory in the UK, handling over 50,000 samples per year. The WMRGL team includes Dr Anna Skowronska (R&D scientist), Dr Jane Bryon (MPN team lead) and Ms Joanne Mason (HaematoOncology team lead). In this article, they discuss the validation and introduction of a 25-gene myeloid disorder hybridisation-based NGS enrichment panel, recently launched by Oxford Gene Technology (OGT). One of these mutations, the JAK2 V617F, is very common in all three of the aforementioned forms of MPN, occurring in 97% of cases of PV and in 50-65% of cases of ET and MF1 . This specificity makes the JAK2 gene an interesting target for molecular analysis. However, as Jane points out; “There are many samples which do not have mutations in these most commonly involved genes, where a more comprehensive analysis is required, which involves sequencing multiple genes. In addition, investigating a wider range of genes is justified as many samples may have more than one mutation. Variation in progress and outcomes for patients with MPN may reflect the synergistic effects of the different combinations of mutations.”

Myeloproliferative neoplasms

Myeloproliferative neoplasms (MPNs) are a group of conditions affecting the bone marrow which result in an overproduction of blood cells....

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