Overview

NCI Definition: A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. [1]

Retinoblastomas most frequently harbor alterations in RB1 and BCOR [2].

Most Commonly Altered Genes in Retinoblastoma

RB1 Mutation, BCOR Mutation, and BCOR Frameshift are the most common alterations in retinoblastoma [2].

Top Alterations in Retinoblastoma

Significant Genes in Retinoblastoma

MDM2 +

MDM4 +

MYCN +

PPM1D +

SMARCA4 +

SMARCB1 +

TET2 +

Disease Details

Synonyms
RB, RETINOBLASTOMA, MALIGNANT
Parent(s)
Retinal Cell Neoplasm
Children
Unilateral Retinoblastoma, Extraocular Retinoblastoma, Hereditary Retinoblastoma, Trilateral Retinoblastoma, Intraocular Retinoblastoma, and Bilateral Retinoblastoma
OncoTree Name
Retinoblastoma
OncoTree Code
RBL

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.