Molecular profiling improves diagnosis in childhood cancer. scientists

Cancer is the leading cause of death in children in most developed countries, and nearly a quarter of patients are diagnosed with aggressive cancer or relapse, with an expected five-year survival rate of less than 30 percent. Accurate diagnosis can be difficult, and surviving patients can suffer lifelong side effects from the toxic treatment needed to treat them. Australian researchers have shown that precision medicine can not only make more accurate diagnoses, but also increase two-year progression-free survival in younger patients through earlier use of targeted therapy. The results of the study will be presented at the annual conference of the European Society of Human Genetics, writes the European Society of Human Genetics. Associate Professor Vanessa Tyrrell from the Zero Childhood Cancer Program (ZERO) and her colleagues from nine children's oncology centers in Australia have included more than 1,600 children in the program since 2017. The first research of ZERO was carried out in 2017-2022. and gave results related to a child's susceptibility to cancer through germline gene variants (genomic risk of childhood cancer). These variants were found in about 16 percent of children. The use of Whole Genome Sequencing (WGS) has been shown to be a better way to detect germline susceptibility to cancer than standard clinical testing methods; more than half of them were previously undetected during standard clinical care because the patients did not meet the criteria for testing. Paired molecular profiling in tumor and germline has increased the frequency of diagnosis and aided in the genetic screening of families who received these results. Cancer susceptibility testing has led to an increased referral rate to oncology genetic services (about 67 percent) and, as a result, to identifying relatives who are at risk of developing cancer. "We also found that about 70 percent of these variants in the germ line were previously known. there was no evidence that they were related to the type of cancer the patients encountered. It is of great importance both for the choice of the treatment method and for constant observation," the scientists noted. 80 percent of the recently identified variants were important for monitoring the progression of cancer and reducing the probability of its occurrence in relatives. According to the researchers, it is far more effective than standard clinical practice and has significant consequences for both patients and their families.