Retinoblastoma - Cause of Retinoblastoma

Cause of Retinoblastoma

In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene. The genetic codes found in chromosomes control the way in which cells grow and develop within the body. If a portion of the code is missing or altered (mutation) a cancer may develop.

The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development.

Inherited forms of retinoblastomas are more likely to be bilateral; in addition, they may be associated with pinealoblastoma (also known as trilateral retinoblastoma) with a dismal outcome. The genetic codes found in chromosomes control the way in which cells grow and develop within the body.

Several methods have been developed to detect the RB1 gene mutations. Attempts to correlate gene mutations to the stage at presentation have not shown convincing evidence of a correlation. Current research being joint funded by The Childhood Eye Cancer Trust in Birmingham, UK, is attempting to establish the different types of retinoblastoma children may have and subsequently determine a more successful treatment pathway.

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