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Basic science
Whole genome and transcriptome profiling in paediatric and young adult cancers
Shukla N, Levine M, Gundem G et al. Feasibility of whole genome and transcriptome profiling in paediatric and young adult cancers. Nat Commun 2022; 13: 2485. doi: 10.1038/s41467-022-30233-7.
Traditional DNA sequencing tests like MSK-IMPACT (Memorial Sloan Kettering - Integrated Mutation Profiling of Actionable Cancer Targets) could detect mutations in 500-plus cancer-related genes and guide clinicians on patients’ treatment based on tumour’s genetic profile. However, these DNA sequencing tests have not been of clinical use in young patients with rare cancers as the types of mutations driving tumours in young patients are different from those in adults. Thus, Shukla et al, studied the use of a new comprehensive sequencing approach named cancer whole genome and transcriptome sequencing (cWGTS) in 114 paediatric, adolescent and young adult patients with rare solid tumours using fresh frozen samples. The team developed a workflow that reports comprehensive cWGTS results in 9 days. Compared with the standard genetic sequencing test MSK-IMPACT, cWGTS identified at least one additional cancer-associated oncogenic variant in 54% (n=62) of the patients. Of these, 33 patients had one or more findings that were of direct clinical relevance, including seven diagnostic (21%), 15 prognostic (45%), 5 therapy informing (15%), 5 previously non-described oncofusions (15%) and six germline (18%) biomarkers. Besides, cWGTS captured seven somatic and germline variants in rare cancer genes, which are not routinely evaluated, in targeted panels. The clinical relevance of cWGTS extended beyond rare cancers. With cWGTS, the full spectrum of cancer-associated mutations was detected in 99% of patients. These results establish the foundations for the implementation of cWGTS as an integrated test in clinical oncology.
Mechanisms of CD8+ T cell failure in chronic hepatitis E virus infection
Kemming J, Gundlach S, Panning M, et al. Mechanisms of CD8 +T cell failure in chronic hepatitis E virus infection. J Hepatol 2022; S0168-8278 (22) 00 334–8. doi: 10.1016/j.jhep.2022.05.019.
The majority of people who are Hepatitis E …
Footnotes
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.