Home > F. Pathology by regions > Head and neck > Head > Face > Orbits > Eyes > retinoblastoma
retinoblastoma
Tuesday 10 May 2005
Images
Macroscopy
- https://twitter.com/smallbluecells/status/866678137639374850
- https://twitter.com/JMGardnerMD/status/875352731728449536
Microscopy
- https://twitter.com/smallbluecells/status/866714633192787972
- https://twitter.com/JMGardnerMD/status/875352731728449536
gains
- 1q32.1 gain (62%) (positively associated with 6p gain and maybe MYCN gain) (KIF14) (17099872, 15834944)
- 2p gain (15834944)
- 6p22 gain (43%) (DEK or E2F3) (16180235, 17099872, 15834944)
- MYCN gain (18%) (17099872)
- 19q gain (15834944)
genomic losses
- 13q losses (RB1 locus) (17099872)
- 16q22 losses (48%) (negatively associated with MYCN gain) (CDH11) (17099872, 15834944)
- 17q21 losses (NGFR) (17099872)
See also
embryonal tumors
tumors
Reviews
Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer. 2007 Jul;46(7):617-34. PMID: 17437278
Dyer MA, Bremner R. The search for the retinoblastoma cell of origin. Nat Rev Cancer. 2005 Feb;5(2):91-101. PMID: 15685194
References
PI3K/Akt pathway mutations in retinoblastoma. Cohen Y, Merhavi-Shoham E, Avraham-Lubin BC, Savetsky M, Frenkel S, Pe’er J, Goldenberg-Cohen N. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5054-6. PMID: 19420344
Bowles E, Corson TW, Bayani J, Squire JA, Wong N, Lai PB, Gallie BL. Profiling genomic copy number changes in retinoblastoma beyond loss of RB1. Genes Chromosomes Cancer. 2007 Feb;46(2):118-29. PMID: 17099872
Zielinski B, Gratias S, Toedt G, Mendrzyk F, Stange DE, Radlwimmer B, Lohmann DR, Lichter P. Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization. Genes Chromosomes Cancer. 2005 Jul;43(3):294-301. PMID: 15834944