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Hereditary retinoblastoma

MedGen UID:
155869
Concept ID:
C0751483
Neoplastic Process
Synonyms: Familial Retinoblastoma; Familial Retinoblastomas; Hereditary Retinoblastoma; Hereditary Retinoblastomas; Retinoblastoma, Familial; Retinoblastoma, Hereditary; Retinoblastomas, Familial; Retinoblastomas, Hereditary
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018160
Orphanet: ORPHA357027

Definition

An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities affecting the RB1 gene. Patients with the inherited form appear to be at increased risk for secondary non-ocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Escudero A, Ferreras C, Rodriguez-Salas N, Corral D, Rodriguez L, Pérez-Martínez A
Int J Clin Oncol 2022 May;27(5):992-1000. Epub 2022 Feb 21 doi: 10.1007/s10147-022-02133-9. PMID: 35190929
Baker MS, McConnell LK, Kleinberg TT, Shriver EM, Bilyk JR, Allen RC
Curr Opin Ophthalmol 2016 Sep;27(5):443-8. doi: 10.1097/ICU.0000000000000295. PMID: 27213925
Sugano K, Yoshida T, Izumi H, Umezawa S, Ushiama M, Ichikawa A, Hidaka A, Murakami Y, Kodama T, Suzuki S, Kaneko A
Int J Clin Oncol 2004 Feb;9(1):25-30. doi: 10.1007/s10147-004-0382-8. PMID: 15162822

Recent clinical studies

Etiology

Baker MS, McConnell LK, Kleinberg TT, Shriver EM, Bilyk JR, Allen RC
Curr Opin Ophthalmol 2016 Sep;27(5):443-8. doi: 10.1097/ICU.0000000000000295. PMID: 27213925
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
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L
Orphanet J Rare Dis 2006 Aug 25;1:31. doi: 10.1186/1750-1172-1-31. PMID: 16934146Free PMC Article

Diagnosis

Baker MS, McConnell LK, Kleinberg TT, Shriver EM, Bilyk JR, Allen RC
Curr Opin Ophthalmol 2016 Sep;27(5):443-8. doi: 10.1097/ICU.0000000000000295. PMID: 27213925
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
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Antoneli CB, Ribeiro Kde C, Sakamoto LH, Chojniak MM, Novaes PE, Arias VE
Pediatr Blood Cancer 2007 Mar;48(3):306-10. doi: 10.1002/pbc.20793. PMID: 16572402
Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L
Orphanet J Rare Dis 2006 Aug 25;1:31. doi: 10.1186/1750-1172-1-31. PMID: 16934146Free PMC Article

Therapy

Kleinerman RA, Schonfeld SJ, Sigel BS, Wong-Siegel JR, Gilbert ES, Abramson DH, Seddon JM, Tucker MA, Morton LM
J Clin Oncol 2019 Dec 10;37(35):3436-3445. Epub 2019 Oct 17 doi: 10.1200/JCO.19.01096. PMID: 31622129Free PMC Article
Chaussade A, Millot G, Wells C, Brisse H, Laé M, Savignoni A, Desjardins L, Dendale R, Doz F, Aerts I, Jimenez I, Cassoux N, Stoppa Lyonnet D, Gauthier Villars M, Houdayer C
Eur J Med Genet 2019 Mar;62(3):217-223. Epub 2018 Jul 18 doi: 10.1016/j.ejmg.2018.07.017. PMID: 30031154
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
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Antoneli CB, Ribeiro Kde C, Sakamoto LH, Chojniak MM, Novaes PE, Arias VE
Pediatr Blood Cancer 2007 Mar;48(3):306-10. doi: 10.1002/pbc.20793. PMID: 16572402

Prognosis

Baker MS, McConnell LK, Kleinberg TT, Shriver EM, Bilyk JR, Allen RC
Curr Opin Ophthalmol 2016 Sep;27(5):443-8. doi: 10.1097/ICU.0000000000000295. PMID: 27213925
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
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Antoneli CB, Ribeiro Kde C, Sakamoto LH, Chojniak MM, Novaes PE, Arias VE
Pediatr Blood Cancer 2007 Mar;48(3):306-10. doi: 10.1002/pbc.20793. PMID: 16572402
Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L
Orphanet J Rare Dis 2006 Aug 25;1:31. doi: 10.1186/1750-1172-1-31. PMID: 16934146Free PMC Article

Clinical prediction guides

Schonfeld SJ, Kleinerman RA, Abramson DH, Seddon JM, Tucker MA, Morton LM
Br J Cancer 2021 Mar;124(7):1312-1319. Epub 2021 Jan 21 doi: 10.1038/s41416-020-01248-y. PMID: 33473166Free PMC Article
Dommering CJ, Marees T, van der Hout AH, Imhof SM, Meijers-Heijboer H, Ringens PJ, van Leeuwen FE, Moll AC
Fam Cancer 2012 Jun;11(2):225-33. doi: 10.1007/s10689-011-9505-3. PMID: 22205104Free PMC Article
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L
Orphanet J Rare Dis 2006 Aug 25;1:31. doi: 10.1186/1750-1172-1-31. PMID: 16934146Free PMC Article
Wiggs J, Nordenskjöld M, Yandell D, Rapaport J, Grondin V, Janson M, Werelius B, Petersen R, Craft A, Riedel K
N Engl J Med 1988 Jan 21;318(3):151-7. doi: 10.1056/NEJM198801213180305. PMID: 2892131

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
Braam KI, Overbeek A, Kaspers GJ, Ronckers CM, Schouten-van Meeteren AY, Van Dulmen-Den Broeder E, Veening MA
Pediatr Blood Cancer 2012 May;58(5):665-74. Epub 2012 Jan 9 doi: 10.1002/pbc.24023. PMID: 22232079
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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