The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in both alleles of the retinoblastoma tumor suppressor gene RB1, followed by a series of other genetic alterations that correlate with the clinical stage and pathologic findings of the tumor. In retinoblastoma, mutation of RB1 leads to dysfunction or absence of the Rb protein. These mutations promote tumour development by deregulating the E2F family of transcription factors leading to uncontrolled cell cycle progression.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms of eye or ocular adnexa
2D02 Malignant neoplasm of retina
H01513 Retinoblastoma
Cancer-associated carbohydrates [br08441.html]
H01513
