Advanced-stage neuroblastoma diagnosis age linked to genetic mutation

In children and young adults with advanced-stage neuroblastoma (a cancerous tumor that develops from nerve tissue), researchers have identified that certain variations of the gene ATRX are associated with age at diagnosis. The study is published in the March 14 issue of JAMA. In children, neuroblastoma is the most prevalent extracranial (outside the cranium) solid tumor. The disease is responsible for 15% of all cancer-related deaths in children. The researchers explain: "Half of the patients (50 percent) with neuroblastoma present with metastatic disease; with current treatment approaches, the age at diagnosis has proven to be one of the most powerful predictors of outcome. The probability of overall survival is 88 percent in infants [age: less than 18 months at time of diagnosis], 49 percent in children [age: 18 months - less than 12 years], and only 10 percent in adolescents of young adults [age: 12 or older. Genetic mutations associated with neuroblastoma and its clinical course are not completely understood." Nai-Kong V. Cheung, M.D., Ph.D., of the Memorial Sloan-Kettering Cancer Center, New York, and colleagues set out to determine genetic variations that are linked to age at diagnosis in individuals with the disease. After obtaining DNA from diagnostic tumors from 40 patients with metastatic neuroblastoma between 1987 and 2009, the researchers performed whole genome sequencing and their matched germlines (cells of a person that have genetic material that may be inherited by their children). Age groups at diagnosis included: Infants aged 0 to 18 months Children aged 18 months to