Researchers discover new gene variants linked with paediatric cancer

New gene variants linked with paediatric cancer

Researchers from Italy and the United States have discovered two new gene variants that increase the risk of neuroblastoma, one of the most common pediatric cancers. Researchers have found out why some children are more susceptible to this type of cancer in childhood and what are the mechanisms underlying tumor growth.

Neuroblastoma is one of the most common solid tumors occurring in childhood. The highest incidence of neuroblastoma is in the first two years of life,while  the development of this cancer in children over 5 years is rare. It should be noted that neuroblastoma is a neuroendocrine tumor that is derived from the sympathetic nervous system. The most common location is in the adrenal glands but it can occur anywhere in the sympathetic nervous system, such as the abdomen, thorax, pelvis and head.

Gene linked with paediatric cancer

Symptoms that appear in neuroblastoma are nonspecific: fatigue, fever, joint pain, anorexia. Of course, the symptoms depend on the location of the tumor. It can happen that the tumour determine compression on certain organs  and this way may appear constipation (when the tumor is located in the abdomen), dyspnea (when it is located in the chest), bone pain, hypertension (renal artery compression). Regarding the causes, these are not clearly known. It seems that genetic factors are involved in the development of neuroblastoma: LMO1 genes NBPF10 genes. As far as the treatment is concerned, neuroblastoma can be treated in several ways, such as surgery, radiation, chemotherapy, stem cell transplant, etc.. Regimen is chosen according to stage of disease and patient characteristics.

Now researchers have found two variants of genes that are involved in the development of neuroblastoma: HACE1 LIN28B genes. Researchers at the Center for Childhood Cancer Research at Children’s Hospital of Philadelphia, conducted a study that analyzed the genomes of 2,800 children with neuroblastoma. To identify two genes, they used a technology called GWAS (genome-wide association studies) on DNA. Then they compared the results found in children with neuroblastoma with a control group consisting of 7500 healthy children.

Lead author Sharon J. Diskin, Ph.D., a pediatric cancer researcher at The Children’s Hospital of Philadelphia, said that although it was known that the two genes are cancer-related genes, this is the first study that reveals the link between these genes and neuroblastoma. In addition, researchers found that HACE1 is a suppressor gene, that inhibit tumor development and LIN28B is involved in tumor progression. In other words, a low expression of HACE1 and high expression of LIN28B are associated with a poor prognosis. Furthermore, researchers have demonstrated in cell culture experiments that a low activity in LIN28B genes can slow tumor growth.