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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
Progress in Small Molecule Therapeutics for the Treatment of Retinoblastoma.
Pritchard EM, Dyer MA, Guy RK
Mini Rev Med Chem 2016;16(6):430-54. doi: 10.2174/1389557515666150722100610. PMID: 26202204Free PMC Article

Recent clinical studies

Etiology

Intravitreal chemotherapy-induced cataract in retinoblastoma: challenges and outcome.
Warkad V, Tripathy D
BMJ Case Rep 2022 Dec 19;15(12) doi: 10.1136/bcr-2022-250617. PMID: 36535729Free 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
Bilateral superselective ophthalmic artery chemotherapy for bilateral retinoblastoma: tandem therapy.
Abramson DH, Dunkel IJ, Brodie SE, Marr B, Gobin YP
Arch Ophthalmol 2010 Mar;128(3):370-2. doi: 10.1001/archophthalmol.2010.7. PMID: 20212212
Bilateral retinoblastoma.
Cleasby GW
Arch Ophthalmol 1972 Jun;87(6):726. doi: 10.1001/archopht.1972.01000020728020. PMID: 5032741

Diagnosis

Cavitary Retinoblastoma Imaged on Magnetic Resonance Imaging.
DeYoung C, Barke MR, Shields CL
J Pediatr Ophthalmol Strabismus 2023 Jan-Feb;60(1):e1-e4. Epub 2023 Jan 1 doi: 10.3928/01913913-20221118-02. PMID: 36695349
Radiologic-pathologic correlation. Bilateral retinoblastoma with coexistent pinealoblastoma (trilateral retinoblastoma).
Provenzale JM, Weber AL, Klintworth GK, McLendon RE
AJNR Am J Neuroradiol 1995 Jan;16(1):157-65. PMID: 7900586Free PMC Article
Trilateral retinoblastoma: ectopic intracranial retinoblastoma associated with bilateral retinoblastoma.
Zimmerman LE, Burns RP, Wankum G, Tully R, Esterly JA
J Pediatr Ophthalmol Strabismus 1982 Nov-Dec;19(6):320-5. doi: 10.3928/0191-3913-19821101-10. PMID: 7153826
Bilateral retinoblastoma.
Cleasby GW
Arch Ophthalmol 1972 Jul;88(1):88-9. doi: 10.1001/archopht.1972.01000030090025. PMID: 5049462
Bilateral retinoblastoma.
Cleasby GW
Arch Ophthalmol 1972 Jun;87(6):726. doi: 10.1001/archopht.1972.01000020728020. PMID: 5032741

Therapy

Intravitreal chemotherapy-induced cataract in retinoblastoma: challenges and outcome.
Warkad V, Tripathy D
BMJ Case Rep 2022 Dec 19;15(12) doi: 10.1136/bcr-2022-250617. PMID: 36535729Free PMC Article
Simultaneous Bilateral Ophthalmic Artery Chemosurgery for Bilateral Retinoblastoma (Tandem Therapy).
Abramson DH, Marr BP, Francis JH, Dunkel IJ, Fabius AW, Brodie SE, Mondesire-Crump I, Gobin YP
PLoS One 2016;11(6):e0156806. Epub 2016 Jun 3 doi: 10.1371/journal.pone.0156806. PMID: 27258771Free 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
Bilateral superselective ophthalmic artery chemotherapy for bilateral retinoblastoma: tandem therapy.
Abramson DH, Dunkel IJ, Brodie SE, Marr B, Gobin YP
Arch Ophthalmol 2010 Mar;128(3):370-2. doi: 10.1001/archophthalmol.2010.7. PMID: 20212212
Recurrent and new tumours during conservative treatment of bilateral retinoblastoma.
Hadjistilianou T, Greco G, Frezzotti R
Ophthalmic Paediatr Genet 1991 Jun;12(2):79-84. doi: 10.3109/13816819109023678. PMID: 1923317

Prognosis

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
Bilateral superselective ophthalmic artery chemotherapy for bilateral retinoblastoma: tandem therapy.
Abramson DH, Dunkel IJ, Brodie SE, Marr B, Gobin YP
Arch Ophthalmol 2010 Mar;128(3):370-2. doi: 10.1001/archophthalmol.2010.7. PMID: 20212212
Early diagnosis of bilateral retinoblastoma reduces death and blindness.
DerKinderen DJ, Koten JW, Van Romunde LK, Nagelkerke NJ, Tan KE, Beemer FA, Den Otter W
Int J Cancer 1989 Jul 15;44(1):35-9. doi: 10.1002/ijc.2910440107. PMID: 2744895
Bilateral retinoblastoma: the prognosis for vision.
Migdal C
Br J Ophthalmol 1983 Sep;67(9):592-5. doi: 10.1136/bjo.67.9.592. PMID: 6882716Free PMC Article
Bilateral retinoblastoma.
Cleasby GW
Arch Ophthalmol 1972 Jun;87(6):726. doi: 10.1001/archopht.1972.01000020728020. PMID: 5032741

Clinical prediction guides

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
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
RB1 gene mutations in retinoblastoma.
Lohmann DR
Hum Mutat 1999;14(4):283-8. doi: 10.1002/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-J. PMID: 10502774
Thirty years of retinoblastoma (1960-89): changing patterns of incidence.
Parkes SE, Amoaku WM, Muir KR, Willshaw HE, Mann JR
Paediatr Perinat Epidemiol 1994 Jul;8(3):282-91. doi: 10.1111/j.1365-3016.1994.tb00461.x. PMID: 7997404
Early diagnosis of bilateral retinoblastoma reduces death and blindness.
DerKinderen DJ, Koten JW, Van Romunde LK, Nagelkerke NJ, Tan KE, Beemer FA, Den Otter W
Int J Cancer 1989 Jul 15;44(1):35-9. doi: 10.1002/ijc.2910440107. PMID: 2744895

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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