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Retinoblastoma(RB1)

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Synonyms: Eye cancer, retinoblastoma; Glioma, retinal; RB1; Retinal cancer; Retinal tumor; RETINOBLASTOMA, SOMATIC
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
SNOMED CT: Retinoblastoma (370967009); Retinoblastoma - morphology (19906005); Retinoblastoma (19906005)
 
Gene: RB1
Cytogenetic location: 13q14.2
OMIM: 180200

Disease characteristics

Excerpted from the GeneReview: Retinoblastoma
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb occurs in cells that have cancer-predisposing mutations in both copies of the gene RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Individuals heterozygous for a cancer-predisposing mutation in one RB1 allele are said to have a germline mutation and thus have a heritable predisposition to Rb. They also have an increased risk of developing non-ocular tumors.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Dietmar R Lohmann  |  Brenda L Gallie   view full author information

Additional descriptions

From OMIM
Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).  http://www.omim.org/entry/180200
From GHR
Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. In most children with retinoblastoma, the disease affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus); persistent eye pain, redness, or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening. When retinoblastoma is associated with a gene mutation that occurs in all of the body's cells, it is known as germinal retinoblastoma. People with this form of retinoblastoma also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pinealoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues such as muscle, and an aggressive form of skin cancer called melanoma.  http://ghr.nlm.nih.gov/condition/retinoblastoma

Clinical features

Leukemia
MedGen UID:
505002
Concept ID:
CN001727
Finding
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Osteosarcoma
MedGen UID:
505326
Concept ID:
CN002426
Finding
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Retinoblastoma
MedGen UID:
506340
Concept ID:
CN008757
Finding
A tumor of the eye originating from cells of the retina.
Ewing's sarcoma
MedGen UID:
506718
Concept ID:
CN168774
Finding
A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.
Leukocoria
MedGen UID:
504494
Concept ID:
CN000521
Finding
An abnormal white reflection from the pupil rather than the usual black reflection.
Retinoblastoma
MedGen UID:
506340
Concept ID:
CN008757
Finding
A tumor of the eye originating from cells of the retina.
Osteosarcoma
MedGen UID:
505326
Concept ID:
CN002426
Finding
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Leukemia
MedGen UID:
505002
Concept ID:
CN001727
Finding
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Leukemia
MedGen UID:
505002
Concept ID:
CN001727
Finding
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Lohmann D, Gallie B, Dommering C, Gauthier-Villars M
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.200. [Epub ahead of print] PMID: 21150892Free PMC Article
Toriello HV, Meck JM; Professional Practice and Guidelines Committee
Genet Med 2008 Jun;10(6):457-60. doi: 10.1097/GIM.0b013e318176fabb. PMID: 18496227Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628
Am J Hum Genet 1995 Nov;57(5):1233-41. PMID: 7485175Free PMC Article

Recent clinical studies

Etiology

Little MP, Schaeffer ML, Reulen RC, Abramson DH, Stovall M, Weathers R, de Vathaire F, Diallo I, Seddon JM, Hawkins MM, Tucker MA, Kleinerman RA
Br J Cancer 2014 May 13;110(10):2623-32. Epub 2014 Apr 22 doi: 10.1038/bjc.2014.193. [Epub ahead of print] PMID: 24755883Free PMC Article
Park SJ, Woo SJ, Park KH
Invest Ophthalmol Vis Sci 2014 May 1;55(5):2816-21. doi: 10.1167/iovs.14-14078. PMID: 24692122
de Jong MC, de Graaf P, Noij DP, Göricke S, Maeder P, Galluzzi P, Brisse HJ, Moll AC, Castelijns JA; European Retinoblastoma Imaging Collaboration (ERIC)
Ophthalmology 2014 May;121(5):1109-18. Epub 2014 Mar 1 doi: 10.1016/j.ophtha.2013.11.021. [Epub ahead of print] PMID: 24589388
Wong JR, Tucker MA, Kleinerman RA, Devesa SS
JAMA Ophthalmol 2014 Apr 1;132(4):478-83. doi: 10.1001/jamaophthalmol.2013.8001. PMID: 24577366
Chawla B, Khurana S, Sen S, Sharma S
Br J Ophthalmol 2014 Apr;98(4):488-93. Epub 2014 Jan 23 doi: 10.1136/bjophthalmol-2013-304321. [Epub ahead of print] PMID: 24457360

Diagnosis

Park SJ, Woo SJ, Park KH
Invest Ophthalmol Vis Sci 2014 May 1;55(5):2816-21. doi: 10.1167/iovs.14-14078. PMID: 24692122
de Jong MC, de Graaf P, Noij DP, Göricke S, Maeder P, Galluzzi P, Brisse HJ, Moll AC, Castelijns JA; European Retinoblastoma Imaging Collaboration (ERIC)
Ophthalmology 2014 May;121(5):1109-18. Epub 2014 Mar 1 doi: 10.1016/j.ophtha.2013.11.021. [Epub ahead of print] PMID: 24589388
Wong JR, Tucker MA, Kleinerman RA, Devesa SS
JAMA Ophthalmol 2014 Apr 1;132(4):478-83. doi: 10.1001/jamaophthalmol.2013.8001. PMID: 24577366
Chawla B, Khurana S, Sen S, Sharma S
Br J Ophthalmol 2014 Apr;98(4):488-93. Epub 2014 Jan 23 doi: 10.1136/bjophthalmol-2013-304321. [Epub ahead of print] PMID: 24457360
Yunoki T, Tabuchi Y, Hayashi A, Kondo T
Invest Ophthalmol Vis Sci 2013 Dec 23;54(13):8353-63. doi: 10.1167/iovs.13-12618. PMID: 24366665

Therapy

Little MP, Schaeffer ML, Reulen RC, Abramson DH, Stovall M, Weathers R, de Vathaire F, Diallo I, Seddon JM, Hawkins MM, Tucker MA, Kleinerman RA
Br J Cancer 2014 May 13;110(10):2623-32. Epub 2014 Apr 22 doi: 10.1038/bjc.2014.193. [Epub ahead of print] PMID: 24755883Free PMC Article
de Jong MC, de Graaf P, Noij DP, Göricke S, Maeder P, Galluzzi P, Brisse HJ, Moll AC, Castelijns JA; European Retinoblastoma Imaging Collaboration (ERIC)
Ophthalmology 2014 May;121(5):1109-18. Epub 2014 Mar 1 doi: 10.1016/j.ophtha.2013.11.021. [Epub ahead of print] PMID: 24589388
Manjandavida FP, Honavar SG, Reddy VA, Khanna R
Ophthalmology 2014 Feb;121(2):517-24. Epub 2013 Oct 25 doi: 10.1016/j.ophtha.2013.09.011. [Epub ahead of print] PMID: 24572675
Sethi RV, Shih HA, Yeap BY, Mouw KW, Petersen R, Kim DY, Munzenrider JE, Grabowski E, Rodriguez-Galindo C, Yock TI, Tarbell NJ, Marcus KJ, Mukai S, MacDonald SM
Cancer 2014 Jan 1;120(1):126-33. Epub 2013 Oct 2 doi: 10.1002/cncr.28387. [Epub ahead of print] PMID: 24122173Free PMC Article
Shinohara ET, DeWees T, Perkins SM
Pediatr Blood Cancer 2014 Jan;61(1):116-9. Epub 2013 Aug 5 doi: 10.1002/pbc.24714. [Epub ahead of print] PMID: 23918737

Prognosis

Park SJ, Woo SJ, Park KH
Invest Ophthalmol Vis Sci 2014 May 1;55(5):2816-21. doi: 10.1167/iovs.14-14078. PMID: 24692122
de Jong MC, de Graaf P, Noij DP, Göricke S, Maeder P, Galluzzi P, Brisse HJ, Moll AC, Castelijns JA; European Retinoblastoma Imaging Collaboration (ERIC)
Ophthalmology 2014 May;121(5):1109-18. Epub 2014 Mar 1 doi: 10.1016/j.ophtha.2013.11.021. [Epub ahead of print] PMID: 24589388
Wong JR, Tucker MA, Kleinerman RA, Devesa SS
JAMA Ophthalmol 2014 Apr 1;132(4):478-83. doi: 10.1001/jamaophthalmol.2013.8001. PMID: 24577366
Manjandavida FP, Honavar SG, Reddy VA, Khanna R
Ophthalmology 2014 Feb;121(2):517-24. Epub 2013 Oct 25 doi: 10.1016/j.ophtha.2013.09.011. [Epub ahead of print] PMID: 24572675
Shinohara ET, DeWees T, Perkins SM
Pediatr Blood Cancer 2014 Jan;61(1):116-9. Epub 2013 Aug 5 doi: 10.1002/pbc.24714. [Epub ahead of print] PMID: 23918737

Clinical prediction guides

Little MP, Schaeffer ML, Reulen RC, Abramson DH, Stovall M, Weathers R, de Vathaire F, Diallo I, Seddon JM, Hawkins MM, Tucker MA, Kleinerman RA
Br J Cancer 2014 May 13;110(10):2623-32. Epub 2014 Apr 22 doi: 10.1038/bjc.2014.193. [Epub ahead of print] PMID: 24755883Free PMC Article
de Jong MC, de Graaf P, Noij DP, Göricke S, Maeder P, Galluzzi P, Brisse HJ, Moll AC, Castelijns JA; European Retinoblastoma Imaging Collaboration (ERIC)
Ophthalmology 2014 May;121(5):1109-18. Epub 2014 Mar 1 doi: 10.1016/j.ophtha.2013.11.021. [Epub ahead of print] PMID: 24589388
Manjandavida FP, Honavar SG, Reddy VA, Khanna R
Ophthalmology 2014 Feb;121(2):517-24. Epub 2013 Oct 25 doi: 10.1016/j.ophtha.2013.09.011. [Epub ahead of print] PMID: 24572675
Shinohara ET, DeWees T, Perkins SM
Pediatr Blood Cancer 2014 Jan;61(1):116-9. Epub 2013 Aug 5 doi: 10.1002/pbc.24714. [Epub ahead of print] PMID: 23918737
Sudhakar J, Venkatesan N, Lakshmanan S, Khetan V, Krishnakumar S, Biswas J
Pediatr Blood Cancer 2013 Oct;60(10):1598-601. Epub 2013 Jun 27 doi: 10.1002/pbc.24599. [Epub ahead of print] PMID: 23804414

Recent systematic reviews

de Jong MC, de Graaf P, Noij DP, Göricke S, Maeder P, Galluzzi P, Brisse HJ, Moll AC, Castelijns JA; European Retinoblastoma Imaging Collaboration (ERIC)
Ophthalmology 2014 May;121(5):1109-18. Epub 2014 Mar 1 doi: 10.1016/j.ophtha.2013.11.021. [Epub ahead of print] PMID: 24589388
Manjandavida FP, Honavar SG, Reddy VA, Khanna R
Ophthalmology 2014 Feb;121(2):517-24. Epub 2013 Oct 25 doi: 10.1016/j.ophtha.2013.09.011. [Epub ahead of print] PMID: 24572675
Smith SJ, Smith BD, Mohney BG
Br J Ophthalmol 2014 Mar;98(3):292-7. Epub 2013 Nov 1 doi: 10.1136/bjophthalmol-2013-303885. [Epub ahead of print] PMID: 24187047
Smith SJ, Smith BD
Br J Ophthalmol 2013 Oct;97(10):1231-6. Epub 2013 Jun 5 doi: 10.1136/bjophthalmol-2013-303188. [Epub ahead of print] PMID: 23740960
Chantada G, Luna-Fineman S, Sitorus RS, Kruger M, Israels T, Leal-Leal C, Bakhshi S, Qaddoumi I, Abramson DH, Doz F; SIOP-PODC Graduated-Intensity Retinoblastoma Guidelines Writing Committee
Pediatr Blood Cancer 2013 May;60(5):719-27. Epub 2013 Jan 17 doi: 10.1002/pbc.24468. [Epub ahead of print] PMID: 23335388

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