KEGG   DISEASE: RetinoblastomaHelp
Entry
H01513                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of eye, brain, and central nervous system
   H01513  Retinoblastoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except 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
BRITE hierarchy
Pathway
hsa04110 Cell cycle   
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]
Drug
Cyclophosphamide [DR:D00287]
Comment
ICD-O-3: 9510/3 Retinoblastoma, NOS
ICD-O-3: 9511/3 Retinoblastoma, differentiated
ICD-O-3: 9512/3 Retinoblastoma, undifferentiated
ICD-O-3: 9513/3 Retinoblastoma, diffuse
ICD-O-3: 9514/1 Retinoblastoma, spontaneously regressed
Other DBs
ICD-11: 2D02.2
ICD-10: C69.2
MeSH: D012175
Reference
PMID:26310174 (description, pathway, gene, drug)
  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
Reference
PMID:25940424 (description, drug)
  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
Reference
PMID:22414599 (pathway, gene, marker, drug)
  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
Reference
  Authors
Eagle RC Jr
  Title
The pathology of ocular cancer.
  Journal
Eye (Lond) 27:128-36 (2013)
DOI:10.1038/eye.2012.237
Reference
  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
Reference
  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

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