A genetic study of soft tissue tumours that affect infants has pointed to several drugs that could improve treatment, researchers said last night.
The research, by German and British researchers, centred on congenital mesoblastic nephroma – but was widened to include several other soft tissues.
Researchers at the Wellcome Trust Sanger Institute, Cambridge, and the University of Würzburg, Germany, published their findings in Nature Communications.
The research began with 17 cases of nephroma and went on to include 350 cases, including the nephroma and infantile fibrosarcoma together with nephroblastomatosis, Wilms tumour, malignant rhabdoid tumour and clear cell renal sarcoma.
The researchers found mutations of epidermal growth factor receptor in nephroma cases together with BRAF gene mutations in nephroma and infantile fibrosarcoma.
They say the EGFR mutation might be tackled with afatinib – which treats lung cancer – while melanoma drugs target BRAF.
Researcher Dr Sam Behjati, of the Wellcome Trust Sanger Institute, said: "We have discovered new diagnostic markers for soft tissue cancers in infants, including CMN, in which the genetic cause of the disease was unknown in one third of patients. These results indicate which existing drugs could be used to help children overcome these tumours in infancy."
Fellow researcher Professor Manfred Gessler, from the University of Würzburg, said: "Genomics is changing how we do health research. The genetic diagnostic markers discovered in this study can be readily integrated into routine clinical practice to give confident diagnoses and match patients with soft tissue tumours to the most appropriate clinical trial, helping to make the trials more effective and ultimately help these children."
Jenny Wegert et al. Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumours of infants. Nature Communications 18 June 2018; doi: 10.1038/s41467-018-04650-6
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