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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

PATIENT-RELATED FACTORS AND CLINICAL MANAGEMENT OUTCOMES OF RETINOBLASTOMA IN CALABAR, NIGERIA.
Nkanga ED, Nlemadim AC, Arazi M, Nkanga DG, Duke RE, Fabian ID, Nkanga ED, Odey FA, Meremikwu MM
West Afr J Med 2023 Dec 4;40(12 Suppl 1):S36-S37. PMID: 38070170
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

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
A Potential Role For Apparent Diffusion Coefficient in the Diagnosis of Trilateral Retinoblastoma.
Farouk Sait S, Haque S, Karimi S, Rebeiz KJ, Francis JH, Marr BP, Abramson DH, Souweidane MM, Dunkel IJ
J Pediatr Hematol Oncol 2020 Apr;42(3):238-243. doi: 10.1097/MPH.0000000000001523. PMID: 31259824Free PMC Article
Metachronous tumor development in unilateral retinoblastoma.
Mastrangelo D, Hadjistilianou T, Di Pisa F, Capretti MC, Frezzotti R
Eur J Ophthalmol 2000 Apr-Jun;10(2):149-52. doi: 10.1177/112067210001000210. PMID: 10887927
Chemotherapy for retinoblastoma.
Akiyama K, Iwasaki M, Amemiya T, Yanai M
Ophthalmic Paediatr Genet 1989 Jun;10(2):111-6. doi: 10.3109/13816818909088351. PMID: 2779981
Bilateral retinoblastoma.
Cleasby GW
Arch Ophthalmol 1972 Jun;87(6):726. doi: 10.1001/archopht.1972.01000020728020. PMID: 5032741

Diagnosis

A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma.
Fukushima H, Suzuki R, Hiraoka T, Suzuki S, Noguchi E, Takada H
Jpn J Clin Oncol 2023 Aug 30;53(9):863-865. doi: 10.1093/jjco/hyad064. PMID: 37345682
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
Very late relapse of bilateral retinoblastoma.
Choi JY, Kang HJ, Lee JW, Ju HY, Hong CR, Kim H, Yu YS, Park SH, Cheon JE, Park KD, Shin HY
J Pediatr Hematol Oncol 2015 May;37(4):e264-7. doi: 10.1097/MPH.0000000000000310. PMID: 25757022
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
Successful salvage intravenous chemotherapy after tandem selective ophthalmic artery infusion chemotherapy in bilateral retinoblastoma.
Kim HJ, Di Nicola M, Augsburger JJ, Williams BK
Indian J Ophthalmol 2020 Nov;68(11):2618-2620. doi: 10.4103/ijo.IJO_576_20. PMID: 33120714Free PMC Article
Pilomatrixoma in a patient with bilateral retinoblastoma.
Gorovoy IR, Layer N, Kim HJ, Nobles SM, Stewart PJ, Vagefi MR, Kersten RC
J AAPOS 2013 Feb;17(1):103-4. Epub 2013 Jan 10 doi: 10.1016/j.jaapos.2012.09.010. PMID: 23313048
Toxocariasis mimicking liver, lung, and spinal cord metastases from retinoblastoma.
Ota KV, Dimaras H, Héon E, Babyn PS, Yau YC, Read S, Budning A, Gallie BL, Chan HS
Pediatr Infect Dis J 2009 Mar;28(3):252-4. doi: 10.1097/INF.0b013e31818a896d. PMID: 19209093
A second leiomyosarcoma in the urinary bladder of a child with a history of retinoblastoma 12 years following partial cystectomy.
Brucker B, Ernst L, Meadows A, Zderic S
Pediatr Blood Cancer 2006 Jun;46(7):811-4. doi: 10.1002/pbc.20506. PMID: 16470582

Prognosis

Incidental neuroblastoma with bilateral retinoblastoma: what are the chances?
Roelofs K, Shaikh F, Astle W, Gallie BL, Soliman SE
Ophthalmic Genet 2018 Jun;39(3):410-413. Epub 2018 Jan 16 doi: 10.1080/13816810.2018.1424208. PMID: 29336617
Metachronous tumor development in unilateral retinoblastoma.
Mastrangelo D, Hadjistilianou T, Di Pisa F, Capretti MC, Frezzotti R
Eur J Ophthalmol 2000 Apr-Jun;10(2):149-52. doi: 10.1177/112067210001000210. PMID: 10887927
Clinical presentation, treatment, and outcome of trilateral retinoblastoma.
Holladay DA, Holladay A, Montebello JF, Redmond KP
Cancer 1991 Feb 1;67(3):710-5. doi: 10.1002/1097-0142(19910201)67:3<710::aid-cncr2820670330>3.0.co;2-3. PMID: 1985763
Chemotherapy for retinoblastoma.
Akiyama K, Iwasaki M, Amemiya T, Yanai M
Ophthalmic Paediatr Genet 1989 Jun;10(2):111-6. doi: 10.3109/13816818909088351. PMID: 2779981
Bilateral retinoblastoma.
Cleasby GW
Arch Ophthalmol 1972 Jun;87(6):726. doi: 10.1001/archopht.1972.01000020728020. PMID: 5032741

Clinical prediction guides

A Potential Role For Apparent Diffusion Coefficient in the Diagnosis of Trilateral Retinoblastoma.
Farouk Sait S, Haque S, Karimi S, Rebeiz KJ, Francis JH, Marr BP, Abramson DH, Souweidane MM, Dunkel IJ
J Pediatr Hematol Oncol 2020 Apr;42(3):238-243. doi: 10.1097/MPH.0000000000001523. PMID: 31259824Free PMC Article
Combined local treatment and chemotherapy in the management of bilateral retinoblastomas in Hungary.
Sohajda Z, Damjanovich J, Bárdi E, Szegedi I, Berta A, Kiss C
J Pediatr Hematol Oncol 2006 Jun;28(6):399-401. doi: 10.1097/00043426-200606000-00016. PMID: 16794512
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
Incidence of second neoplasms in patients with bilateral retinoblastoma.
Roarty JD, McLean IW, Zimmerman LE
Ophthalmology 1988 Nov;95(11):1583-7. doi: 10.1016/s0161-6420(88)32971-4. PMID: 3211467
Anterior polar cataracts associated with bilateral retinoblastoma.
Brown GC, Shields JA, Oglesby RB
Am J Ophthalmol 1979 Mar;87(3):276. doi: 10.1016/0002-9394(79)90061-8. PMID: 434085

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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