According to a new analysis, it has been accounted that tumors have a characteristic mutation, ATRX. Following a genetic analysis of neuroblastoma samples from infants and young adults, it was concluded that tumor encountered in case of adults was due to a high frequency of specific mutation. However, the presence of this mutation was not being seen in infants or children.
The investigators of the study carried out an analysis on 40 patients with metastatic melanoma. The whole genome sequencing on DNA of tumor samples was carried out. This group was termed as ‘discovery cohort’. They also considered the tumor samples of 64 patients, whose tumors were examined in the last few years. They termed this group as validation cohort.
The findings from the discovery cohort showed that the infants younger than 18 months showed no signs of these mutations, children between the age 18 months and 12 years- 29 samples were analyzed, out of which, in only five cases these mutations were identified, and in case of 12 years and older, the mutations were observed in the total five of five samples.
The results that came into notice for the validation cohort were, out of the 27 samples from adolescents or young adults, nine were found carrying these mutations, out of the 25 samples from children between 18 months to 12 years, 4 cases were registered of this mutation and in case of infants, none of the samples was found carrying the mutation.
The mutations were expected to be related to the ATRX protein in nucleus and long telomeres. These are all a part of stages encountered during cell division.
Coinvestigator Alberto Pappo, MD, Director of the Solid Tumor Division at St. Jude's said, “The presence of ATRX appears to identify a subset of patients with neuroblastoma who are older than 5 years of age and lack MYCN amplification”.
They stated that the findings have helped them find better molecular markers and treatment.