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Are genetics involved in the development of neuroblastoma?


Neuroblastoma is a type of cancer that originates in immature forms of nerve cells (called neuroblasts) of the sympathetic nervous system, which grow uncontrollably and form a tumor. The term neuro refers to nerves, while blastoma refers to a cancer that starts in developing cells. Most neuroblastomas start in the nerve tissue of the adrenal glands.

Neuroblastoma is most common in infants and children, in fact, it accounts for 8-10% of all childhood tumors. Regarding when it develops, almost 90% of neuroblastomas are detected in children under 5 years old and it rarely occurs in children older than 10 years.

genetics development neuroblastoma

ALK and others, key to the genetics of neuroblastoma

Neuroblastoma is a complex disease, i.e., it depends on genetic factors as well as environmental and lifestyle factors. However, no environmental factor has been described in this disease (either exposure to certain toxic substances or to radiation during pregnancy) that increases the probability of developing the disease. It is true that an association has been established in children and infants with a history of congenital anomalies. These types of defects can be structural or functional, occur during gestation and increase the risk of developing childhood cancers.

In most cases of neuroblastoma there is no family history (sporadic neuroblastoma). However, in 1-2% of cases, the genetics of neuroblastoma play an important role in the onset of the disease.

In the last decade, genome-wide association studies (GWAS) have uncovered information about the genetics of neuroblastoma. These types of studies have identified single nucleotide polymorphisms (SNPs) in certain genes that are strongly associated with neuroblastoma susceptibility and/or aggressiveness.

Variations in the ALK gene have been the most studied, since they are the most frequently found in childhood cancer. The ALK gene is involved in the growth and development of nerve cells, but it is not the only gene whose variants have shown an association with the predisposition to suffer the disease; there are a greater number of loci that form part of the genetics of neuroblastoma. Among them are the loci located in the BARD1, HACE1 or LMO1 genes, which are analyzed in our DNA test.

How does a genetic test help to detect neuroblastoma?

Although in most cases the etiology of neuroblastoma is unknown, our genetic test, specifically the Advanced DNA kit, makes it possible to determine the genetic predisposition of an individual to develop this type of cancer.