In this week's Nature, a group of German scientists reports new insights into the genetic basis of high-risk neuroblastoma, a pediatric cancer that develops from nerve cells. By performing whole-genome sequencing of 39 high-risk and 17 low-risk neuroblastoma tumors, the group found that about 25 percent of high-risk tumors were associated with genetic rearrangements in a region of DNA located near the telomerase reverse transcriptase (TERT) gene. These rearrangements were not present in low-risk tumors. The investigators also found that the lengthening of telomeres played a role in high-risk neuroblastomas, and that TERT rearrangements contributed to this process.
Also in Nature, a group from the Dana-Farber Cancer Institute and the Broad Institute presents the results of a genetic analysis of cancerous and normal tissue from more than 500 chronic lymphocytic leukemia (CLL) patients. By performing whole-exome sequencing on the samples, the team discovered a number of genetic abnormalities potentially contributing to the disease, including two previously unassociated with human cancer. The scientists also found mutations that were especially common among patients who had previously received treatment, suggesting they help the disease rebound, and created a first draft of CLL's "molecular biography," identifying which mutations arose early in the disease's progression and which come later on. GenomeWeb has more on this study, here.