Scientists Discover Gene Behind Deadly Childhood Cancer Neuroblastoma

Researchers have discovered a gene mutation which is responsible for the most inherited forms of neuroblastomas in children, a rare cancerdefine of specialised nerve cells, called neural crest cells which are involved in the development of the nervous system and other tissues.

Each year, approximately 10 per million children in between the ages of 0 to four years die of neuroblastoma, accounting for 15 percent of cancerdefine deaths in children.

The scientist’s from the United States, Italy, and Belgium found that mutations in a gene called anaplastic lymphoma kinase (ALK) are responsible for the development of neuroblastoma in babies, the second most common solid tumor in childhood.

The first author of the study, Yael P. Mosse, managing director of the Children's Hospital of Philadelphia, USA, said, “This discovery enables us to offer the first genetic tests to families affected by the inherited form of this disease."

Adding further Mosse said, “Furthermore, because there already are drugs in development that target the same gene in adult cancers, we can soon begin testing those drugs in children with neuroblastoma."

Neuroblastoma can occur anywhere in the body, but it most often occurs in one of the adrenal glands -- specialised glands which are found above the kidneys-- in the abdomendefine. In some infants, the neuroblastoma can occur in nerve tissue alongside the spinal cord in the neck, chest, abdomen or pelvis. The cause for neuroblastoma is yet unknown. Nearly 1 percent to 2 percent of neuroblastomas are believed to be hereditary.

Senior author for the study, Dr. John M Mari, director of the Center for Childhood Cancer Research at he Children's Hospital of Philadelphia and colleagues centered their research around the death of 8 year old Alex Scott of Alex's Lemonade Stand.

The study team looked at the 10 DNA samples taken from the family members who were hit by the disease and decoded the DNA makeup of each individual in the families. The researchers were able to discover a gene called ALK, which is thought to be strongly involved in inherited cases of neuroblastoma.

The doctors also found that the alterations in the ALK gene were also found in tumor cells related to the cancer and now the researchers are hoping to be able to develop a new medication which targets this specific gene and improve the chances of patients surviving.

Just like the case of 8 year old Alex, most children who get neuroblastoma receive a painful course of chemotherapy, radiationdefine and stem cell transplants that does not seem to be helpful every time.

Concluding their study authors said, "Our results demonstrate that heritable mutations of ALK are the main cause of familial neuroblastoma, and that germline or acquired activation of this cell-surface kinase is a tractable therapeutic target for this lethal paediatric malignancy."

Maris said, "This is a very important discovery."

“It not only helps us understand the genetic roots of this terrible disease, but also has led to dramatically new ideas for curative therapy," Dr Maris added.

Every year, nearly 700 children are diagnosed with childhood cancer, neuroblastoma and the survival rate is usually at around 40 percent each and every year. Most children who get this cancer are younger than 5 years old and makes up two in 25 or 8 percent of the total number of children's cancers.