| H01513 | |
| H number | H01513 |
| Name | Retinoblastoma |
| Description | 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 |
| Network | - |
| Gene | RB1 (mutation) [HSA:5925] [KO:K06618] MDM4 (amplification) [HSA:4194] [KO:K10127] MDM2 (amplification) [HSA:4193] [KO:K06643] KIF14 (amplification) [HSA:9928] [KO:K17915] CDH11 (loss) [HSA:1009] [KO:K06803] p16/INK (loss) [HSA:1029] [KO:K06621] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Cyclophosphamide [DR:D00287] |
| Comment | - |
| Other DBs | ICD-11: 2D02.2 ICD-10: C69.2 MeSH: D012175 |
| Reference | PMID:26310174 AUTHORS Mendoza PR, Grossniklaus HE TITLE The Biology of Retinoblastoma. JOURNAL Prog Mol Biol Transl Sci 134:503-16 (2015) DOI:10.1016/bs.pmbts.2015.06.012 PMID:25940424 AUTHORS Jenkinson H TITLE Retinoblastoma: diagnosis and management--the UK perspective. JOURNAL Arch Dis Child 100:1070-5 (2015) DOI:10.1136/archdischild-2014-306208 PMID:22414599 AUTHORS Dimaras H, Kimani K, Dimba EA, Gronsdahl P, White A, Chan HS, Gallie BL TITLE Retinoblastoma. JOURNAL Lancet 379:1436-46 (2012) DOI:10.1016/S0140-6736(11)61137-9 PMID:23154492 AUTHORS Eagle RC Jr TITLE The pathology of ocular cancer. JOURNAL Eye (Lond) 27:128-36 (2013) DOI:10.1038/eye.2012.237 PMID:25621664 AUTHORS Benavente CA, Dyer MA TITLE Genetics and epigenetics of human retinoblastoma. JOURNAL Annu Rev Pathol 10:547-62 (2015) DOI:10.1146/annurev-pathol-012414-040259 PMID:15306814 AUTHORS Hernando E, Nahle Z, Juan G, Diaz-Rodriguez E, Alaminos M, Hemann M, Michel L, Mittal V, Gerald W, Benezra R, Lowe SW, Cordon-Cardo C TITLE Rb inactivation promotes genomic instability by uncoupling cell cycle progression from mitotic control. JOURNAL Nature 430:797-802 (2004) DOI:10.1038/nature02820 |