They found that 23 patients with RTS, including all 11 of those diagnosed with osteosarcoma, carried at least one of 19 truncating mutations in their RECQL4 genes. The incidence of osteosarcoma was 0.00 per year in patients without such mutations and 0.05 per year in patients with such mutations. The authors conclude that mutations predicted to result in the loss of RECQL4 protein function are associated with risk of osteosarcoma.
Contact: Lori Williams, Baylor College of Medicine, 713-798-7637, loriw@bcm.tmc.edu .
They scanned patients who had advanced gastrointestinal cancers with carbon-labeled thymidine positron emission tomography (PET); some patients were treated with the TS inhibitor AG337, and some were not. Comparison of scans before and after AG337 treatment showed changes in PET parameters that were consistent with increased tumor thymidine incorporation. The PET results were consistent with conventional pharmacodynamic systemic measures of TS inhibition. The authors conclude that carbon-labeled thymidine PET can be used to measure thymidine salvage kinetics directly and noninvasively in tissues of interest.
Contact: Richard Hoey, Cancer Research UK, 44-207-061-8308, Richard.hoey@cancer.org.u k.
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JNCI Journal of the National Cancer Institute