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Retinoblastoma(RB1)

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Synonyms: Eye cancer, retinoblastoma; RB1; Retina tumor; Retinal cancer; Retinal tumor; RETINOBLASTOMA, SOMATIC
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Somatic mutation (HPO, OMIM)
Sporadic (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: Retinoblastoma (370967009); Retinoblastoma - morphology (19906005); Retinoblastoma (19906005)
 
Gene (location): RB1 (13q14.2)
OMIM®: 180200
HPO: HP:0009919
Orphanet: ORPHA790

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 develops from cells that have cancer-predisposing variants in both copies of 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. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. [from GeneReviews]
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 children with retinoblastoma, the disease often 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 dim light or 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), which can cause squinting; a change in the color of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes.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 genetic change (mutation) that occurs in all of the body's cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and 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 (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma.  https://ghr.nlm.nih.gov/condition/retinoblastoma

Clinical features

Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
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.
Pinealoma
MedGen UID:
19315
Concept ID:
C0031941
Neoplastic Process
A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of 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. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Ewing sarcoma
MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Pinealoma
MedGen UID:
19315
Concept ID:
C0031941
Neoplastic Process
A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
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.
Retinal calcification
MedGen UID:
357948
Concept ID:
C1867289
Finding
Deposition of calcium salts in the retina.
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of 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. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Leukocoria
MedGen UID:
57540
Concept ID:
C0152458
Disease or Syndrome
An abnormal white reflection from the pupil rather than the usual black reflection.
Retinal calcification
MedGen UID:
357948
Concept ID:
C1867289
Finding
Deposition of calcium salts in the retina.

Conditions with this feature

Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
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:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of 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. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
13q partial monosomy syndrome
MedGen UID:
120541
Concept ID:
C0265451
Disease or Syndrome
The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS; American Society of Clinical Oncology.
J Clin Oncol 2014 Mar 10;32(8):833-40. Epub 2014 Feb 3 doi: 10.1200/JCO.2013.50.9257. PMID: 24493721Free PMC Article
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. 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. 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

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Hu H, Zhang W, Wang Y, Huang D, Shi J, Li B, Zhang Y, Zhou Y
BMC Ophthalmol 2018 Apr 23;18(1):107. doi: 10.1186/s12886-018-0772-8. PMID: 29685116Free PMC Article
Alkatan HM, ALBalawi H, Maktabi AMY
Int Ophthalmol 2018 Feb;38(1):35-41. Epub 2017 Mar 14 doi: 10.1007/s10792-016-0410-5. PMID: 28293770
Shifa JZ, Gezmu AM
Pan Afr Med J 2017;28:66. Epub 2017 Sep 22 doi: 10.11604/pamj.2017.28.66.11199. PMID: 29230267Free PMC Article
Amram AL, Rico G, Kim JW, Chintagumpala M, Herzog CE, Gombos DS, Chévez-Barrios P
Ophthalmology 2017 Oct;124(10):1540-1547. Epub 2017 May 17 doi: 10.1016/j.ophtha.2017.04.015. PMID: 28528011
Vasalaki M, Fabian ID, Reddy MA, Cohen VM, Sagoo MS
Br Med Bull 2017 Jan 1;121(1):107-119. doi: 10.1093/bmb/ldw053. PMID: 28069617

Diagnosis

Hu H, Zhang W, Wang Y, Huang D, Shi J, Li B, Zhang Y, Zhou Y
BMC Ophthalmol 2018 Apr 23;18(1):107. doi: 10.1186/s12886-018-0772-8. PMID: 29685116Free PMC Article
Alkatan HM, ALBalawi H, Maktabi AMY
Int Ophthalmol 2018 Feb;38(1):35-41. Epub 2017 Mar 14 doi: 10.1007/s10792-016-0410-5. PMID: 28293770
Shifa JZ, Gezmu AM
Pan Afr Med J 2017;28:66. Epub 2017 Sep 22 doi: 10.11604/pamj.2017.28.66.11199. PMID: 29230267Free PMC Article
Agaimy A
Ann Diagn Pathol 2017 Aug;29:52-56. Epub 2017 Apr 29 doi: 10.1016/j.anndiagpath.2017.04.012. PMID: 28807343
Vasalaki M, Fabian ID, Reddy MA, Cohen VM, Sagoo MS
Br Med Bull 2017 Jan 1;121(1):107-119. doi: 10.1093/bmb/ldw053. PMID: 28069617

Therapy

Hu H, Zhang W, Wang Y, Huang D, Shi J, Li B, Zhang Y, Zhou Y
BMC Ophthalmol 2018 Apr 23;18(1):107. doi: 10.1186/s12886-018-0772-8. PMID: 29685116Free PMC Article
Amram AL, Rico G, Kim JW, Chintagumpala M, Herzog CE, Gombos DS, Chévez-Barrios P
Ophthalmology 2017 Oct;124(10):1540-1547. Epub 2017 May 17 doi: 10.1016/j.ophtha.2017.04.015. PMID: 28528011
Chen S, Ji X, Liu M, Xia Z, Zheng H, Yin Q, Wang H, Li Y
Oncotarget 2017 Jun 13;8(24):38413-38425. doi: 10.18632/oncotarget.16423. PMID: 28415600Free PMC Article
Vasalaki M, Fabian ID, Reddy MA, Cohen VM, Sagoo MS
Br Med Bull 2017 Jan 1;121(1):107-119. doi: 10.1093/bmb/ldw053. PMID: 28069617
Jo DH, Lee K, Kim JH, Jun HO, Kim Y, Cho YL, Yu YS, Min JK, Kim JH
Oncotarget 2017 Feb 28;8(9):15441-15452. doi: 10.18632/oncotarget.14487. PMID: 28061460Free PMC Article

Prognosis

Hu H, Zhang W, Wang Y, Huang D, Shi J, Li B, Zhang Y, Zhou Y
BMC Ophthalmol 2018 Apr 23;18(1):107. doi: 10.1186/s12886-018-0772-8. PMID: 29685116Free PMC Article
Alkatan HM, ALBalawi H, Maktabi AMY
Int Ophthalmol 2018 Feb;38(1):35-41. Epub 2017 Mar 14 doi: 10.1007/s10792-016-0410-5. PMID: 28293770
Amram AL, Rico G, Kim JW, Chintagumpala M, Herzog CE, Gombos DS, Chévez-Barrios P
Ophthalmology 2017 Oct;124(10):1540-1547. Epub 2017 May 17 doi: 10.1016/j.ophtha.2017.04.015. PMID: 28528011
Elzomor H, Taha H, Nour R, Aleieldin A, Zaghloul MS, Qaddoumi I, Alfaar AS
Ophthalmic Genet 2017 Jul-Aug;38(4):345-351. Epub 2017 Jan 13 doi: 10.1080/13816810.2016.1227995. PMID: 28085527
Vasalaki M, Fabian ID, Reddy MA, Cohen VM, Sagoo MS
Br Med Bull 2017 Jan 1;121(1):107-119. doi: 10.1093/bmb/ldw053. PMID: 28069617

Clinical prediction guides

Berry JL, Bechtold M, Shah S, Zolfaghari E, Reid M, Jubran R, Kim JW
Ophthalmology 2017 Dec;124(12):1817-1825. Epub 2017 Jun 24 doi: 10.1016/j.ophtha.2017.05.034. PMID: 28655537
Amram AL, Rico G, Kim JW, Chintagumpala M, Herzog CE, Gombos DS, Chévez-Barrios P
Ophthalmology 2017 Oct;124(10):1540-1547. Epub 2017 May 17 doi: 10.1016/j.ophtha.2017.04.015. PMID: 28528011
Qu W, Meng B, Yu Y, Wang S
Mater Sci Eng C Mater Biol Appl 2017 Jul 1;76:646-651. Epub 2017 Mar 6 doi: 10.1016/j.msec.2017.03.036. PMID: 28482574
Chen M, Jiang H, Zhang J, Shen G, Jiang Y, Li H, Liu Z
Acta Ophthalmol 2017 Sep;95(6):613-618. Epub 2016 Nov 22 doi: 10.1111/aos.13333. PMID: 27874261
Batra A, Pushker N, Venkatesh P, Arora T, Tewari R, Bakhshi S
Clin Transl Oncol 2016 Oct;18(10):1034-8. Epub 2016 Jan 19 doi: 10.1007/s12094-016-1482-4. PMID: 26781471

Recent systematic reviews

Fabian ID, Johnson KP, Stacey AW, Sagoo MS, Reddy MA
Cochrane Database Syst Rev 2017 Jun 7;6:CD012366. doi: 10.1002/14651858.CD012366.pub2. PMID: 28589646
Fabian ID, Naeem Z, Stacey AW, Chowdhury T, Duncan C, Reddy MA, Sagoo MS
Am J Ophthalmol 2017 Jul;179:137-144. Epub 2017 May 10 doi: 10.1016/j.ajo.2017.05.003. PMID: 28501391
Yamanaka R, Hayano A
World Neurosurg 2017 May;101:722-730.e4. Epub 2017 Feb 16 doi: 10.1016/j.wneu.2017.02.031. PMID: 28214635
Kooi IE, Mol BM, Massink MP, de Jong MC, de Graaf P, van der Valk P, Meijers-Heijboer H, Kaspers GJ, Moll AC, Te Riele H, Cloos J, Dorsman JC
PLoS One 2016;11(4):e0153323. Epub 2016 Apr 26 doi: 10.1371/journal.pone.0153323. PMID: 27115612Free PMC Article
Pritchard EM, Dyer MA, Guy RK
Mini Rev Med Chem 2016;16(6):430-54. PMID: 26202204Free PMC Article

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