| H01513 | |
| H番号 | H01513 |
| 名称 | 網膜芽細胞腫; 網膜芽腫 |
| 概要 | 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. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | シクロホスファミド水和物 [DR:D00287] イホスファミド [DR:D00343] ドキソルビシン塩酸塩 [DR:D01275] エトポシド [DR:D00125] カルボプラチン [DR:D01363] |
| コメント | - |
| リンク | ICD-11: 2D02.2 ICD-10: C69.2 MeSH: D012175 |
| 文献 | PMID:26310174 著者 Mendoza PR, Grossniklaus HE タイトル The Biology of Retinoblastoma. 雑誌 Prog Mol Biol Transl Sci 134:503-16 (2015) DOI:10.1016/bs.pmbts.2015.06.012 PMID:25940424 著者 Jenkinson H タイトル Retinoblastoma: diagnosis and management--the UK perspective. 雑誌 Arch Dis Child 100:1070-5 (2015) DOI:10.1136/archdischild-2014-306208 PMID:22414599 著者 Dimaras H, Kimani K, Dimba EA, Gronsdahl P, White A, Chan HS, Gallie BL タイトル Retinoblastoma. 雑誌 Lancet 379:1436-46 (2012) DOI:10.1016/S0140-6736(11)61137-9 PMID:23154492 著者 Eagle RC Jr タイトル The pathology of ocular cancer. 雑誌 Eye (Lond) 27:128-36 (2013) DOI:10.1038/eye.2012.237 PMID:25621664 著者 Benavente CA, Dyer MA タイトル Genetics and epigenetics of human retinoblastoma. 雑誌 Annu Rev Pathol 10:547-62 (2015) DOI:10.1146/annurev-pathol-012414-040259 PMID:15306814 著者 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 タイトル Rb inactivation promotes genomic instability by uncoupling cell cycle progression from mitotic control. 雑誌 Nature 430:797-802 (2004) DOI:10.1038/nature02820 |