Myeloproliferative neoplasms (MPNs) are a heterogeneous group of diseases characterised by the overproduction of one or more types of blood cells. The SureSeq™ Core MPN Panel has been designed in collaboration with recognised cancer experts to detect somatic variants in 3 clinically relevant MPN-associated genes; JAK2, MPL and CALR (Table 1). The SureSeq Core MPN Panel provides researchers with a single, 1-day NGS workflow for studies into the diagnosis, aetiology and prognosis of MPNs.
The hybridisation-based SureSeq Core MPN Panel is able to consistently detect SNVs and indels down to 1% minor allele frequency (MAF), using a streamlined 1-day workflow. Facilitated by OGT’s expert bait design, the panel delivers the turn-around time of an amplicon-based protocol with the superior coverage uniformity of a hybridisation-based panel, enabling confident detection of key MPN variants including a 52 bp deletion in CALR exon 9 and a 6 bp deletion in JAK2 exon 12 (Figures 1 and 2).
The BCR-ABL gene fusion is formed following a balanced translocation of chromosome 9 and 22, generating the Philadelphia chromosome. Most MPNs are negative for BCR-ABL, however this translocation is a hallmark of chronic myeloid leukaemia (CML) (Figure 3).
With SureSeq myPanel™, our regularly updated, expert-curated library of pre-optimised cancer content, you can customise your SureSeq Core MPN Panel and add BCR-ABL fusion gene detection, as well as other myeloid content, to create your ideal custom SureSeq myPanel MPN Panel. Combine SNV and indel detection with translocation content and replace multiple assays with a single streamlined NGS workflow for a more comprehensive picture of all your MPN samples.
Interpret is OGT’s powerful and easy-to-use data analysis solution, facilitating analysis and visualisation of a wide range of somatic variants and structural aberrations. Designed to work seamlessly with all SureSeq panels, Interpret perfectly complements the SureSeq Core MPN Panel, delivering fast and accurate detection of SNVs and indels, as well as BCR-ABL and other translocation events for customised panels. Following detection, all variants can be readily visualised in the user-friendly variant browser, for an effortless translation of all your MPN data into meaningful results.
We were delighted with the performance of the SureSeq panel. It showed complete concordance with our other techniques, detecting all known mutations with excellent sensitivity down to 1% [MAF (minor allele frequency)], including, in one case, a JAK2 V617F mutation which was not detected by ddPCR due to a second mutation under the primer. The panel also demonstrated mutations in other genes in samples with low level JAK2 V617F and good correlation between allele frequencies and quantitative analysis by ddPCR. We are planning to adopt the panel in the near future.
Dr Anna Skowronska
R&D Scientist, Haemato-Oncology Team, West Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust, UK