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Retinoblastoma(RB1)

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Synonyms: Eye cancer, retinoblastoma; RB1; RETINOBLASTOMA, SOMATIC
SNOMED CT: Retinoblastoma (370967009); Retinoblastoma - morphology (19906005); Retinoblastoma (19906005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): RB1 (13q14.2)
 
HPO: HP:0009919
Monarch Initiative: MONDO:0008380
OMIM®: 180200
Orphanet: ORPHA790

Disease characteristics

Excerpted from the GeneReview: Retinoblastoma
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is associated with susceptibility for retinoblastoma as well as 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 MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/retinoblastoma

Clinical features

From HPO
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.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. 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.\n\nEwing 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.\n\nIt 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.
Pinealoma
MedGen UID:
19315
Concept ID:
C0031941
Neoplastic Process
A neoplasm of the pineal gland.
Cleft 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).
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.
Vitritis
MedGen UID:
68620
Concept ID:
C0235812
Disease or Syndrome
Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.
Retinal calcification
MedGen UID:
357948
Concept ID:
C1867289
Finding
Deposition of calcium salts in the retina.

Conditions with this feature

Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Bone osteosarcoma
MedGen UID:
108437
Concept ID:
C0585442
Neoplastic Process
Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.
Chromosome 13q14 deletion syndrome
MedGen UID:
462652
Concept ID:
C3151302
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

Roda D, Veiga P, Melo JB, Carreira IM, Ribeiro IP
Genes (Basel) 2024 Apr 17;15(4) doi: 10.3390/genes15040501. PMID: 38674436Free PMC Article
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Eur J Cancer 2022 Aug;171:203-231. Epub 2022 Jun 19 doi: 10.1016/j.ejca.2022.03.043. PMID: 35732101
Ancona-Lezama D, Dalvin LA, Shields CL
Indian J Ophthalmol 2020 Nov;68(11):2356-2365. doi: 10.4103/ijo.IJO_721_20. PMID: 33120616Free PMC Article

Curated

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

Recent clinical studies

Etiology

Nag A, Khetan V
Indian J Ophthalmol 2024 Jun 1;72(6):778-788. Epub 2024 May 24 doi: 10.4103/IJO.IJO_2414_23. PMID: 38804799Free PMC Article
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Eye (Lond) 2023 Apr;37(5):797-808. Epub 2022 Jan 5 doi: 10.1038/s41433-021-01845-y. PMID: 34987197Free PMC Article
Lin FY, Chintagumpala MM
Clin Perinatol 2021 Mar;48(1):53-70. doi: 10.1016/j.clp.2020.12.001. PMID: 33583507
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Knudson AG Jr
Proc Natl Acad Sci U S A 1971 Apr;68(4):820-3. doi: 10.1073/pnas.68.4.820. PMID: 5279523Free PMC Article

Diagnosis

Peeler CE, Gonzalez E
N Engl J Med 2022 Jun 23;386(25):2412. doi: 10.1056/NEJMicm2118356. PMID: 35731655
Lin FY, Chintagumpala MM
Clin Perinatol 2021 Mar;48(1):53-70. doi: 10.1016/j.clp.2020.12.001. PMID: 33583507
Ancona-Lezama D, Dalvin LA, Shields CL
Indian J Ophthalmol 2020 Nov;68(11):2356-2365. doi: 10.4103/ijo.IJO_721_20. PMID: 33120616Free PMC Article
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Therapy

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Prognosis

Appay R, Dehais C, Maurage CA, Alentorn A, Carpentier C, Colin C, Ducray F, Escande F, Idbaih A, Kamoun A, Marie Y, Mokhtari K, Tabouret E, Trabelsi N, Uro-Coste E, Delattre JY, Figarella-Branger D; POLA Network
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Clinical prediction guides

Yao Y, Gu X, Xu X, Ge S, Jia R
Cancer Lett 2022 Oct 28;547:215870. Epub 2022 Aug 12 doi: 10.1016/j.canlet.2022.215870. PMID: 35964818
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Recent systematic reviews

Feng H, Deng Y
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