Neuroblastoma is a form of cancer that forms certain types of nerve tissue in adrenal glands, chest, neck, spine, and abdomen. The occurrence of neuroblastoma is prevalent across a wide age range, but recent studies have indicated age-related genetic mutations in patients with metastatic neuroblastoma. This study aims to evaluate the associations between genetic mutations and the age at diagnosis in patients with metastatic neuroblastoma. 

This is a group cohort analysis in which germlines from a total of 40 patients with metastatic neuroblastoma were collected. To confirm the findings, the researchers also obtained tumors from an additional 64 patients. The primary outcome of the study is the identification of somatic recurrent mutations in tumors of patients.

The researchers found mutations in the ATRX gene in 100% of the participants of the adult and young adolescent group, 17% in children, and 0% in infants. In the validation cohort, ATRX mutation was present in 33% of adult and young adolescents, 16% in children, and 0% in infants.

The research concluded that ATRX mutations were associated with age at diagnosis in children and young adults. The risk of mutation was the highest in young adults and adolescents, followed by children. No mutations were identified in infants.