What is germinal retinoblastoma?

When retinoblastoma is associated with a gene mutation that occurs in all of the body’s cells, it is known as heritable or germinal retinoblastoma. The mutation in the RB1 gene may be passed from a parent to child or it may occur in the egg or sperm before conception or soon after conception.

What are the two types of retinoblastoma?

Retinoblastoma may affect one eye (unilateral) or both eyes (bilateral). Retinoblastomas occur in two forms – heritable and non-heritable. Bilateral forms are heritable and usually diagnosed at a younger age. In most affected children, retinoblastoma is non-heritable; it occurs spontaneously for no apparent reason.

What is non-hereditary retinoblastoma?

Non-hereditary retinoblastoma is a rare form of cancer that usually affects children under the age of six. This type of retinoblastoma is typically unilateral, meaning that it only affects only one eye. Non-hereditary retinoblastoma rarely spreads beyond the original site and usually does not involve recurring tumors.

Is retinoblastoma germline or somatic?

Heritable or bilateral retinoblastoma About 1 out of 3 children with retinoblastoma have a germline mutation in one RB1 gene; that is, the RB1 gene mutation is in all the cells in the body. In most of these children (75%), this mutation occurs very early in development, while still in the womb.

What is the survival rate of retinoblastoma?

The 5-year survival rate for children with retinoblastoma is 96%. However, that rate depends on several factors, including whether the cancer has spread from the eye to other parts of the body. It is important to remember that statistics on the survival rates for children with retinoblastoma are an estimate.

How is retinoblastoma caused?

Retinoblastoma occurs when nerve cells in the retina develop genetic mutations. These mutations cause the cells to continue growing and multiplying when healthy cells would die. This accumulating mass of cells forms a tumor. Retinoblastoma cells can invade further into the eye and nearby structures.

What are the different types of retinoblastoma?

Types of Retinoblastoma

Unilateral retinoblastoma affects one eye and accounts for 60% to 75% of cases.
Bilateral retinoblastoma affects both eyes.
PNET (primitive neuroectodermal tumors) retinoblastoma occurs when an associated tumor forms in primitive nerve cells in the brain.
Learn more about retinoblastoma:

Are there different types of retinoblastoma?

There are 2 different types of retinoblastoma. The type depends on where and when the RB1 mutation occurs and whether the mutation is inherited. Non-hereditary retinoblastoma (also called sporadic retinoblastoma) happens by chance. About 60% of children with retinoblastoma have non-hereditary retinoblastoma.

What percentage of retinoblastoma is hereditary?

About 40 percent of children with retinoblastoma have a hereditary form of the condition.

Is retinoblastoma caused by somatic mutation?

While familial patients have inherited the mutant allele, sporadic heritable patients have acquired a de novo RB1 mutation. The majority of non-heritable retinoblastoma (95%) is also caused by bi-allelic inactivation of RB1 but in this case occurring through two subsequent somatic events in the developing retina.

What type of mutation causes retinoblastoma?

Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and stops cells from dividing too rapidly or in an uncontrolled way.

Is retinoblastoma curable?

Several types of therapies are used for retinoblastoma, and more than 90% of children can be cured. In addition to curing the retinoblastoma, an important goal of treatment is the preservation of vision.

How is a non-hereditary form of retinoblastoma diagnosed?

In the non-hereditary form of retinoblastoma, typically only one eye is affected and there is no family history of the disease. Affected individuals are born with two normal copies of the RB1 gene. Then, usually in early childhood, both copies of the RB1 gene in certain retinal cells acquire mutations.

What happens to your body when you get retinoblastoma?

When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body’s cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye.

What is the prognosis for unilateral form of retinoblastoma?

Vital prognosis, related to retinoblastoma alone, is now excellent in patients with unilateral or bilateral forms of retinoblastoma. Long term follow-up and early counseling regarding the risk of second primary tumors and transmission should be offered to retinoblastoma patients. Retinoblastoma.

How are mutations in the RB1 gene related to retinoblastoma?

Expand Section. Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and stops cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein,