Epub Feb Retinoblastoma: from disease to discovery. Ophthalmic Res. Epub Apr Genetics of Retinoblastoma. Asia Pac J Ophthalmol Phila. Retinoblastoma: genetics and pathology. Int Ophthalmol Clin. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.
Lancet Oncol. Epub Mar Retinoblastoma: what is new in Curr Opin Ophthalmol. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. Prenatal versus Postnatal Screening for Familial Retinoblastoma. Epub Oct 3. National Cancer Institute. Accessed Jan. Yanoff M, et al. Malignant intraocular neoplasms. In: Ophthalmology. Surgical procedures. American Society of Ocularists. Kliegman RM, et al. Retinoblastoma In: Nelson Textbook of Pediatrics.
Elsevier; Accessed Dec. Dimaras H, et al. Retinoblastoma, the visible CNS tumor: A review. Journal of Neuroscience Research. Retinoblastoma child. Mayo Clinic; The chain of events inside cells that leads to retinoblastoma is complex, but it almost always starts with a change mutation in the RB1 gene. The normal RB1 gene helps keep cells from growing out of control, but a change in the gene stops it from working like it should. Depending on when and where the change in the RB1 gene occurs, it can result in 2 different types of retinoblastoma.
In about 1 out of 3 children with retinoblastoma, the abnormality in the RB1 gene is congenital present at birth and is in all the cells of the body, including all of the cells of both retinas. This is known as a germline mutation. Despite this sometimes being called 'heritable' or 'hereditary' , in most of these children, there is no family history of this cancer, and the RB1 gene change is not inherited from a parent.
In these children, the gene change first occurs during early development in the womb. Only a small portion of the children born with this gene change inherit it from a parent. Children born with a mutation in the RB1 gene usually develop retinoblastoma in both eyes known as bilateral retinoblastoma , and there are often several tumors within the eye known as multifocal retinoblastoma.
Because all of the cells in the body have the changed RB1 gene, these children also have a higher risk of developing cancers in other parts of the body. Net: Cancer. Types of Cancer. Retinoblastoma - Childhood Guide. Net Guide Retinoblastoma - Childhood. Medical Illustrations. Risk Factors. Symptoms and Signs.
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