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Sporadic Retinoblastoma

MedGen UID:
155870
•Concept ID:
C0751484
•
Neoplastic Process
Synonyms: Retinoblastoma, Sporadic; Retinoblastomas, Sporadic; Sporadic Retinoblastomas

Definition

A retinoblastoma that occurs in a patient without a family history of the disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSporadic Retinoblastoma

Professional guidelines

PubMed

Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
Rodríguez-Martín C, Robledo C, Gómez-Mariano G, Monzón S, Sastre A, Abelairas J, Sábado C, Martín-Begué N, Ferreres JC, Fernández-Teijeiro A, González-Campora R, Rios-Moreno MJ, Zaballos Á, Cuesta I, Martínez-Delgado B, Posada M, Alonso J
J Hum Genet 2020 Jan;65(2):165-174. Epub 2019 Nov 26 doi: 10.1038/s10038-019-0696-z. PMID: 31772335
New Strategies in the Treatment of Unilateral Sporadic Retinoblastoma.
Shields CL, Shields JA
J Pediatr Ophthalmol Strabismus 2015 May-Jun;52(3):134-7. doi: 10.3928/01913913-20150427-01. PMID: 26053204
Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm.
Tran HV, Schorderet DF, Gaillard MC, Balmer A, Munier FL
Ophthalmic Genet 2012 Mar;33(1):6-11. Epub 2011 Nov 21 doi: 10.3109/13816810.2011.610859. PMID: 22103627

Recent clinical studies

Etiology

Parental Occupation and Risk of Childhood Retinoblastoma in Denmark.
Omidakhsh N, Hansen J, Ritz B, Coleman AL, McKean-Cowdin R, Olsen J, Heck JE
J Occup Environ Med 2021 Mar 1;63(3):256-261. doi: 10.1097/JOM.0000000000002120. PMID: 33395168Free PMC Article
Medical radiation exposure and risk of sporadic retinoblastoma.
Shakeel O, Pace N, Chambers TM, Scheurer ME, Ganguly AA, Lupo PJ, Bunin GR
Pediatr Blood Cancer 2020 Nov;67(11):e28633. Epub 2020 Aug 2 doi: 10.1002/pbc.28633. PMID: 32743912
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
Rodríguez-Martín C, Robledo C, Gómez-Mariano G, Monzón S, Sastre A, Abelairas J, Sábado C, Martín-Begué N, Ferreres JC, Fernández-Teijeiro A, González-Campora R, Rios-Moreno MJ, Zaballos Á, Cuesta I, Martínez-Delgado B, Posada M, Alonso J
J Hum Genet 2020 Jan;65(2):165-174. Epub 2019 Nov 26 doi: 10.1038/s10038-019-0696-z. PMID: 31772335
A review of the literature for intra-arterial chemotherapy used to treat retinoblastoma.
Wyse E, Handa JT, Friedman AD, Pearl MS
Pediatr Radiol 2016 Aug;46(9):1223-33. Epub 2016 Feb 17 doi: 10.1007/s00247-016-3554-6. PMID: 26886915
Data on the recurrence of breast tumors fit a model in which dormant cells are subject to slow attrition but can randomly awaken to become malignant.
Stein WD, Litman T
Cell Cycle 2006 Oct;5(20):2348-53. Epub 2006 Oct 16 doi: 10.4161/cc.5.20.3349. PMID: 17102622

Diagnosis

Parental Occupation and Risk of Childhood Retinoblastoma in Denmark.
Omidakhsh N, Hansen J, Ritz B, Coleman AL, McKean-Cowdin R, Olsen J, Heck JE
J Occup Environ Med 2021 Mar 1;63(3):256-261. doi: 10.1097/JOM.0000000000002120. PMID: 33395168Free PMC Article
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
Rodríguez-Martín C, Robledo C, Gómez-Mariano G, Monzón S, Sastre A, Abelairas J, Sábado C, Martín-Begué N, Ferreres JC, Fernández-Teijeiro A, González-Campora R, Rios-Moreno MJ, Zaballos Á, Cuesta I, Martínez-Delgado B, Posada M, Alonso J
J Hum Genet 2020 Jan;65(2):165-174. Epub 2019 Nov 26 doi: 10.1038/s10038-019-0696-z. PMID: 31772335
Detection of Aberrant DNA Methylation Patterns in the RB1 Gene.
Anwar SL, Lehmann U
Methods Mol Biol 2018;1726:35-47. doi: 10.1007/978-1-4939-7565-5_5. PMID: 29468542
The retinoblastoma paradigm revisited.
Mastrangelo D, De Francesco S, Di Leonardo A, Lentini L, Hadjistilianou T
Med Sci Monit 2008 Dec;14(12):RA231-40. PMID: 19043380
Genesis and genetics of retinoblastoma.
François J, Matton MT, De Bie S, Tanaka Y, Vandenbulcke D
Ophthalmologica 1975;170(5):405-25. doi: 10.1159/000307248. PMID: 1097980

Therapy

Medical radiation exposure and risk of sporadic retinoblastoma.
Shakeel O, Pace N, Chambers TM, Scheurer ME, Ganguly AA, Lupo PJ, Bunin GR
Pediatr Blood Cancer 2020 Nov;67(11):e28633. Epub 2020 Aug 2 doi: 10.1002/pbc.28633. PMID: 32743912
Sporadic Retinoblastoma and Parental Smoking and Alcohol Consumption before and after Conception: A Report from the Children's Oncology Group.
Azary S, Ganguly A, Bunin GR, Lombardi C, Park AS, Ritz B, Heck JE
PLoS One 2016;11(3):e0151728. Epub 2016 Mar 18 doi: 10.1371/journal.pone.0151728. PMID: 26991078Free PMC Article
A review of the literature for intra-arterial chemotherapy used to treat retinoblastoma.
Wyse E, Handa JT, Friedman AD, Pearl MS
Pediatr Radiol 2016 Aug;46(9):1223-33. Epub 2016 Feb 17 doi: 10.1007/s00247-016-3554-6. PMID: 26886915
New Strategies in the Treatment of Unilateral Sporadic Retinoblastoma.
Shields CL, Shields JA
J Pediatr Ophthalmol Strabismus 2015 May-Jun;52(3):134-7. doi: 10.3928/01913913-20150427-01. PMID: 26053204
Data on the recurrence of breast tumors fit a model in which dormant cells are subject to slow attrition but can randomly awaken to become malignant.
Stein WD, Litman T
Cell Cycle 2006 Oct;5(20):2348-53. Epub 2006 Oct 16 doi: 10.4161/cc.5.20.3349. PMID: 17102622

Prognosis

Medical radiation exposure and risk of sporadic retinoblastoma.
Shakeel O, Pace N, Chambers TM, Scheurer ME, Ganguly AA, Lupo PJ, Bunin GR
Pediatr Blood Cancer 2020 Nov;67(11):e28633. Epub 2020 Aug 2 doi: 10.1002/pbc.28633. PMID: 32743912
A review of the literature for intra-arterial chemotherapy used to treat retinoblastoma.
Wyse E, Handa JT, Friedman AD, Pearl MS
Pediatr Radiol 2016 Aug;46(9):1223-33. Epub 2016 Feb 17 doi: 10.1007/s00247-016-3554-6. PMID: 26886915
Two-dose exposure of intra-arterial chemotherapy for group D retinoblastoma.
Hutchinson A, Kaliki S, Shields CL
J Pediatr Ophthalmol Strabismus 2012 Mar 27;49 Online:e15-8. doi: 10.3928/01913913-20120320-01. PMID: 22443587
The retinoblastoma paradigm revisited.
Mastrangelo D, De Francesco S, Di Leonardo A, Lentini L, Hadjistilianou T
Med Sci Monit 2008 Dec;14(12):RA231-40. PMID: 19043380
Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma.
Kivelä T
J Clin Oncol 1999 Jun;17(6):1829-37. doi: 10.1200/JCO.1999.17.6.1829. PMID: 10561222

Clinical prediction guides

Parental Occupation and Risk of Childhood Retinoblastoma in Denmark.
Omidakhsh N, Hansen J, Ritz B, Coleman AL, McKean-Cowdin R, Olsen J, Heck JE
J Occup Environ Med 2021 Mar 1;63(3):256-261. doi: 10.1097/JOM.0000000000002120. PMID: 33395168Free PMC Article
Parental occupational exposures and the risk of childhood sporadic retinoblastoma: a report from the Children's Oncology Group.
Omidakhsh N, Bunin GR, Ganguly A, Ritz B, Kennedy N, von Ehrenstein OS, Krause N, Heck JE
Occup Environ Med 2018 Mar;75(3):205-211. Epub 2017 Oct 26 doi: 10.1136/oemed-2017-104404. PMID: 29074554Free PMC Article
The retinoblastoma paradigm revisited.
Mastrangelo D, De Francesco S, Di Leonardo A, Lentini L, Hadjistilianou T
Med Sci Monit 2008 Dec;14(12):RA231-40. PMID: 19043380
Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation.
Naumova AK, Olien L, Bird LM, Slamka C, Fonseca M, Verner AE, Wang M, Leppert M, Morgan K, Sapienza C
Dev Genet 1995;17(3):198-205. doi: 10.1002/dvg.1020170304. PMID: 8565326
Retinoblastoma in older children.
Shields CL, Shields JA, Shah P
Ophthalmology 1991 Mar;98(3):395-9. doi: 10.1016/s0161-6420(91)32283-8. PMID: 2023762

Recent systematic reviews

The retinoblastoma paradigm revisited.
Mastrangelo D, De Francesco S, Di Leonardo A, Lentini L, Hadjistilianou T
Med Sci Monit 2008 Dec;14(12):RA231-40. PMID: 19043380
Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma.
Kivelä T
J Clin Oncol 1999 Jun;17(6):1829-37. doi: 10.1200/JCO.1999.17.6.1829. PMID: 10561222

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