Researchers identify genetic mutations that predict better prognosis for neuroblastoma patients

May 19 2017

The collaborative work, in which UPV/EHU and Achucarro Center researchers have participated, has served to identify some genetic mutations that will help to improve the treatment of this disease

The annual mortality rate in childhood cancer of the sympathetic nervous system, or neuroblastoma, is 10 per million between the ages of 0 and 4. The collaborative work between Basque and Valencian researchers has served to identify some genetic mutations that will help to improve the treatment of this disease.

Researchers at the Instituto de Investigación Sanitaria La Fe (Institute of Healthcare Research La Fe) in Valencia led by Jaime Font de Mora, in collaboration with José Luis Zugaza, an Ikerbasque researcher at the UPV/EHU-University of the Basque Country and the "Achucarro Basque Center for Neuroscience", have by means of NGS (Next Generation Sequencing) identified mutations in the Tiam1 gene that predict a better prognosis for neuroblastoma patients.

A neuroblastoma is a solid, extracranial tumor more frequent in childhood. It accounts for 7% of all pediatric cancers and is the cause of 15% of the total number of deaths resulting from oncological processes in childhood. The incidence of it ranges between 8 and 10 cases per million children. Family cases of neuroblastoma have been described but they are extremely rare. Right now, it is not known how this rare type of cancer originates.

The study reveals that these mutations that anticipate the progression of this disease are located in various Tiam1 domains related to the Ras and Rac GTPases and also with Myc; all these proteins are involved in the aetiology and progression of this type of cancer.

The results have been published in the journal Oncotarget, which specializes in works dealing with targets for different types of cancers. These results suggest that the signalosome controlled by Tiam1 may be essential in the development of the neuroblastoma and, therefore, Tiam1 is positioned as a target that could help to improve the effectiveness of neuroblastoma treatment.

The next step is to incorporate these studies into clinical practice to improve the tools and procedures in the diagnosis with a view to implementing earlier treatments for the children affected.