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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

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
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
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

Zhou C, Wen X, Ding Y, Ding J, Jin M, Liu Z, Wang S, Han M, Yuan H, Xiao Y, Wu L, Wang J, Li Y, Yu J, Wen Y, Ye J, Liu R, Chen Z, Xue S, Lu W, Liao H, Cui J, Zhu D, Lu F, Tang S, Wu Y, Yangkyi T, Zhang G, Wubuli M, Guo H, Wang X, He Y, Sheng X, Wang Q, Luo Y, Fan J, Qi J, Yu Z, Tan J, Liang J, Sun X, Jin L, Yang X, Zhang J, Ji X, Zhao J, Jia R, Fan X
Ophthalmology 2022 Feb;129(2):209-219. Epub 2021 Sep 15 doi: 10.1016/j.ophtha.2021.09.002. PMID: 34536465
Escudero A, Ruz-Caracuel B, Bueno D, Martínez M, Rubio P, Regojo RM, Antolín E, Ybarra M, Martínez L, Pozo-Kreilinger JJ, Elorza MD, Pellicer A, Omeñaca F, Pérez-Martínez A
Clin Transl Oncol 2021 Jun;23(6):1179-1184. Epub 2021 Jan 1 doi: 10.1007/s12094-020-02508-2. PMID: 33385285
Winter U, Ganiewich D, Ottaviani D, Zugbi S, Aschero R, Sendoya JM, Cafferata EG, Mena M, Sgroi M, Sampor C, Lubieniecki F, Fandiño A, Abba MC, Doz F, Podhjacer O, Carcaboso AM, Letouzé E, Radvanyi F, Chantada GL, Llera AS, Schaiquevich P
JAMA Ophthalmol 2020 May 1;138(5):569-574. doi: 10.1001/jamaophthalmol.2020.0427. PMID: 32191268Free PMC Article
Buaboonnam J, Narkbunnam N, Vathana N, Takpradit C, Phuakpet K, Pongtanakul B, Tongsai S, Atchaneeyasakul LO, Sanpakit K
Pediatr Hematol Oncol 2019 Mar;36(2):73-81. Epub 2019 Apr 13 doi: 10.1080/08880018.2019.1600083. PMID: 30983466
Zafar SN, Siddiqui SN, Zaheer N
J Coll Physicians Surg Pak 2016 Nov;26(11):896-899. PMID: 27981923

Diagnosis

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
Zhou C, Wen X, Ding Y, Ding J, Jin M, Liu Z, Wang S, Han M, Yuan H, Xiao Y, Wu L, Wang J, Li Y, Yu J, Wen Y, Ye J, Liu R, Chen Z, Xue S, Lu W, Liao H, Cui J, Zhu D, Lu F, Tang S, Wu Y, Yangkyi T, Zhang G, Wubuli M, Guo H, Wang X, He Y, Sheng X, Wang Q, Luo Y, Fan J, Qi J, Yu Z, Tan J, Liang J, Sun X, Jin L, Yang X, Zhang J, Ji X, Zhao J, Jia R, Fan X
Ophthalmology 2022 Feb;129(2):209-219. Epub 2021 Sep 15 doi: 10.1016/j.ophtha.2021.09.002. PMID: 34536465
Committee for the National Registry of Retinoblastoma
Jpn J Ophthalmol 2018 Jul;62(4):409-423. Epub 2018 May 30 doi: 10.1007/s10384-018-0597-2. PMID: 29846838
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
Schedler KJ, Traine PG, Lohmann DR, Haritoglou C, Metz KA, Rodrigues EB
Ophthalmic Genet 2016;37(1):95-7. Epub 2014 Jun 3 doi: 10.3109/13816810.2014.921315. PMID: 24892564

Therapy

Zhou C, Wen X, Ding Y, Ding J, Jin M, Liu Z, Wang S, Han M, Yuan H, Xiao Y, Wu L, Wang J, Li Y, Yu J, Wen Y, Ye J, Liu R, Chen Z, Xue S, Lu W, Liao H, Cui J, Zhu D, Lu F, Tang S, Wu Y, Yangkyi T, Zhang G, Wubuli M, Guo H, Wang X, He Y, Sheng X, Wang Q, Luo Y, Fan J, Qi J, Yu Z, Tan J, Liang J, Sun X, Jin L, Yang X, Zhang J, Ji X, Zhao J, Jia R, Fan X
Ophthalmology 2022 Feb;129(2):209-219. Epub 2021 Sep 15 doi: 10.1016/j.ophtha.2021.09.002. PMID: 34536465
Abramson DH, Catalanotti F, Brodie SE, Kellick MG, Francis JH
Ophthalmic Genet 2018 Jun;39(3):353-356. Epub 2018 Mar 7 doi: 10.1080/13816810.2018.1443343. PMID: 29513055Free PMC Article
Zafar SN, Siddiqui SN, Zaheer N
J Coll Physicians Surg Pak 2016 Nov;26(11):896-899. PMID: 27981923
Pritchard EM, Dyer MA, Guy RK
Mini Rev Med Chem 2016;16(6):430-54. doi: 10.2174/1389557515666150722100610. PMID: 26202204Free PMC Article
Chantada GL, Fandiño AC, Schvartzman E, Raslawski E, Schaiquevich P, Manzitti J
Pediatr Blood Cancer 2014 May;61(5):821-6. Epub 2013 Nov 14 doi: 10.1002/pbc.24857. PMID: 24243706

Prognosis

Zhou C, Wen X, Ding Y, Ding J, Jin M, Liu Z, Wang S, Han M, Yuan H, Xiao Y, Wu L, Wang J, Li Y, Yu J, Wen Y, Ye J, Liu R, Chen Z, Xue S, Lu W, Liao H, Cui J, Zhu D, Lu F, Tang S, Wu Y, Yangkyi T, Zhang G, Wubuli M, Guo H, Wang X, He Y, Sheng X, Wang Q, Luo Y, Fan J, Qi J, Yu Z, Tan J, Liang J, Sun X, Jin L, Yang X, Zhang J, Ji X, Zhao J, Jia R, Fan X
Ophthalmology 2022 Feb;129(2):209-219. Epub 2021 Sep 15 doi: 10.1016/j.ophtha.2021.09.002. PMID: 34536465
Fabian ID, Shah V, Kapelushnik N, Naeem Z, Onadim Z, Price EA, Duncan C, Stansfield D, Sagoo MS, Reddy MA
Graefes Arch Clin Exp Ophthalmol 2020 Apr;258(4):879-886. Epub 2020 Jan 3 doi: 10.1007/s00417-019-04589-4. PMID: 31900643
Buaboonnam J, Narkbunnam N, Vathana N, Takpradit C, Phuakpet K, Pongtanakul B, Tongsai S, Atchaneeyasakul LO, Sanpakit K
Pediatr Hematol Oncol 2019 Mar;36(2):73-81. Epub 2019 Apr 13 doi: 10.1080/08880018.2019.1600083. PMID: 30983466
Brennan RC, Qaddoumi I, Mao S, Wu J, Billups CA, Stewart CF, Hoehn ME, Rodriguez-Galindo C, Wilson MW
J Clin Oncol 2017 Jan;35(1):72-77. Epub 2016 Oct 31 doi: 10.1200/JCO.2016.69.2996. PMID: 28034080Free PMC Article
Batra A, Pushker N, Venkatesh P, Arora T, Tewari R, Bakhshi S
Clin Transl Oncol 2016 Oct;18(10):1034-8. Epub 2016 Jan 19 doi: 10.1007/s12094-016-1482-4. PMID: 26781471

Clinical prediction guides

Winter U, Ganiewich D, Ottaviani D, Zugbi S, Aschero R, Sendoya JM, Cafferata EG, Mena M, Sgroi M, Sampor C, Lubieniecki F, Fandiño A, Abba MC, Doz F, Podhjacer O, Carcaboso AM, Letouzé E, Radvanyi F, Chantada GL, Llera AS, Schaiquevich P
JAMA Ophthalmol 2020 May 1;138(5):569-574. doi: 10.1001/jamaophthalmol.2020.0427. PMID: 32191268Free PMC Article
Fabian ID, Shah V, Kapelushnik N, Naeem Z, Onadim Z, Price EA, Duncan C, Stansfield D, Sagoo MS, Reddy MA
Graefes Arch Clin Exp Ophthalmol 2020 Apr;258(4):879-886. Epub 2020 Jan 3 doi: 10.1007/s00417-019-04589-4. PMID: 31900643
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
Zafar SN, Siddiqui SN, Zaheer N
J Coll Physicians Surg Pak 2016 Nov;26(11):896-899. PMID: 27981923
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

Recent systematic reviews

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
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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