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bilateral retinoblastoma

MedGen UID:
163163
•Concept ID:
C0854914
•
Neoplastic Process
Synonym: Bilateral Retinoblastoma
 
Monarch Initiative: MONDO:0003075

Definition

Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVbilateral retinoblastoma

Professional guidelines

PubMed

Management of advanced uni- or bilateral retinoblastoma with macroscopic optic nerve invasion.
Choucair ML, Brisse HJ, Fréneaux P, Desjardins L, Dorfmüller G, Puget S, Dendale R, Chevrier M, Doz F, Lumbroso-Le Rouic L, Aerts I
Pediatr Blood Cancer 2020 Jan;67(1):e27998. Epub 2019 Oct 1 doi: 10.1002/pbc.27998. PMID: 31571399
Mosaicism and prenatal diagnosis options: insights from retinoblastoma.
Dehainault C, Golmard L, Millot GA, Charpin A, Laugé A, Tarabeux J, Aerts I, Cassoux N, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C
Eur J Hum Genet 2017 Feb;25(3):381-383. Epub 2016 Dec 21 doi: 10.1038/ejhg.2016.174. PMID: 28000698Free PMC Article
Genetic screening in Iranian patients with retinoblastoma.
Shahraki K, Ahani A, Sharma P, Faranoush M, Bahoush G, Torktaz I, Gahl WA, Naseripour M, Behnam B
Eye (Lond) 2017 Apr;31(4):620-627. Epub 2016 Dec 16 doi: 10.1038/eye.2016.289. PMID: 27983729Free PMC Article

Recent clinical studies

Etiology

Prenatal ambient pesticide exposure and childhood retinoblastoma.
Thompson S, Ritz B, Cockburn M, Heck JE
Int J Hyg Environ Health 2022 Aug;245:114025. Epub 2022 Aug 26 doi: 10.1016/j.ijheh.2022.114025. PMID: 36037576Free PMC Article
Genetics and Molecular Diagnostics in Retinoblastoma--An Update.
Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. PMID: 28399338
The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis.
de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T
Am J Ophthalmol 2015 Dec;160(6):1116-1126.e5. Epub 2015 Sep 12 doi: 10.1016/j.ajo.2015.09.009. PMID: 26374932
Retinoblastoma frontiers with intravenous, intra-arterial, periocular, and intravitreal chemotherapy.
Shields CL, Fulco EM, Arias JD, Alarcon C, Pellegrini M, Rishi P, Kaliki S, Bianciotto CG, Shields JA
Eye (Lond) 2013 Feb;27(2):253-64. Epub 2012 Sep 21 doi: 10.1038/eye.2012.175. PMID: 22995941Free 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

Diagnosis

Chemoreduction with topotecan and vincristine: Quantifying tumor response in bilateral retinoblastoma patients.
King BA, Sahr N, Sykes A, Wilson MW, Brennan RC
Pediatr Blood Cancer 2021 Apr;68(4):e28882. Epub 2021 Jan 28 doi: 10.1002/pbc.28882. PMID: 33507604
Genetics and Molecular Diagnostics in Retinoblastoma--An Update.
Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. PMID: 28399338
The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis.
de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T
Am J Ophthalmol 2015 Dec;160(6):1116-1126.e5. Epub 2015 Sep 12 doi: 10.1016/j.ajo.2015.09.009. PMID: 26374932
Retinoblastoma frontiers with intravenous, intra-arterial, periocular, and intravitreal chemotherapy.
Shields CL, Fulco EM, Arias JD, Alarcon C, Pellegrini M, Rishi P, Kaliki S, Bianciotto CG, Shields JA
Eye (Lond) 2013 Feb;27(2):253-64. Epub 2012 Sep 21 doi: 10.1038/eye.2012.175. PMID: 22995941Free 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

Therapy

Prenatal ambient pesticide exposure and childhood retinoblastoma.
Thompson S, Ritz B, Cockburn M, Heck JE
Int J Hyg Environ Health 2022 Aug;245:114025. Epub 2022 Aug 26 doi: 10.1016/j.ijheh.2022.114025. PMID: 36037576Free PMC Article
Chemoreduction with topotecan and vincristine: Quantifying tumor response in bilateral retinoblastoma patients.
King BA, Sahr N, Sykes A, Wilson MW, Brennan RC
Pediatr Blood Cancer 2021 Apr;68(4):e28882. Epub 2021 Jan 28 doi: 10.1002/pbc.28882. PMID: 33507604
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy.
Francis JH, Roosipu N, Levin AM, Brodie SE, Dunkel IJ, Gobin YP, Abramson DH
Neoplasia 2018 Aug;20(8):757-763. Epub 2018 Jun 22 doi: 10.1016/j.neo.2018.05.007. PMID: 29940303Free PMC Article
The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis.
de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T
Am J Ophthalmol 2015 Dec;160(6):1116-1126.e5. Epub 2015 Sep 12 doi: 10.1016/j.ajo.2015.09.009. PMID: 26374932
Retinoblastoma frontiers with intravenous, intra-arterial, periocular, and intravitreal chemotherapy.
Shields CL, Fulco EM, Arias JD, Alarcon C, Pellegrini M, Rishi P, Kaliki S, Bianciotto CG, Shields JA
Eye (Lond) 2013 Feb;27(2):253-64. Epub 2012 Sep 21 doi: 10.1038/eye.2012.175. PMID: 22995941Free PMC Article

Prognosis

Chemoreduction with topotecan and vincristine: Quantifying tumor response in bilateral retinoblastoma patients.
King BA, Sahr N, Sykes A, Wilson MW, Brennan RC
Pediatr Blood Cancer 2021 Apr;68(4):e28882. Epub 2021 Jan 28 doi: 10.1002/pbc.28882. PMID: 33507604
Clinical Features and Long-term Prognosis of Retinoblastoma according to Age at Diagnosis.
Kim HA, Yoon YH, Kim JG, Lee JY
Korean J Ophthalmol 2020 Jun;34(3):242-250. doi: 10.3341/kjo.2019.0097. PMID: 32495533Free PMC Article
The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis.
de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T
Am J Ophthalmol 2015 Dec;160(6):1116-1126.e5. Epub 2015 Sep 12 doi: 10.1016/j.ajo.2015.09.009. PMID: 26374932
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
Basic understanding of current classification and management of retinoblastoma.
Shields CL, Shields JA
Curr Opin Ophthalmol 2006 Jun;17(3):228-34. doi: 10.1097/01.icu.0000193079.55240.18. PMID: 16794434

Clinical prediction guides

Characterization of the Portuguese population diagnosed with retinoblastoma.
Castela G, Providência J, Monteiro M, Silva S, Brito M, Sá J, Oliveiros B, Murta JN, Correa Z, Branco MC
Sci Rep 2022 Mar 14;12(1):4378. doi: 10.1038/s41598-022-08326-6. PMID: 35288594Free PMC Article
Chemoreduction with topotecan and vincristine: Quantifying tumor response in bilateral retinoblastoma patients.
King BA, Sahr N, Sykes A, Wilson MW, Brennan RC
Pediatr Blood Cancer 2021 Apr;68(4):e28882. Epub 2021 Jan 28 doi: 10.1002/pbc.28882. PMID: 33507604
Perinatal characteristics and retinoblastoma.
Heck JE, Lombardi CA, Meyers TJ, Cockburn M, Wilhelm M, Ritz B
Cancer Causes Control 2012 Sep;23(9):1567-75. Epub 2012 Jul 29 doi: 10.1007/s10552-012-0034-7. PMID: 22843021Free 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
Basic understanding of current classification and management of retinoblastoma.
Shields CL, Shields JA
Curr Opin Ophthalmol 2006 Jun;17(3):228-34. doi: 10.1097/01.icu.0000193079.55240.18. PMID: 16794434

Recent systematic reviews

The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis.
de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T
Am J Ophthalmol 2015 Dec;160(6):1116-1126.e5. Epub 2015 Sep 12 doi: 10.1016/j.ajo.2015.09.009. PMID: 26374932
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

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