" /> Retinoblastoma - CISMeF





Preferred Label : Retinoblastoma;

Symbol : RB1;

CISMeF acronym : RB; RB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RB;

Description : Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the RB1 gene (RB1, 614041.0001);

Neoplasia : Osteogenic sarcoma; Pinealoma (trilateral retinoblastoma); Leukemia; Lymphoma; Ewing sarcoma;

Prefixed ID : #180200;

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29/07/2025


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