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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.
Autosomal dominant inheritance (Orphanet)
 
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

Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma.
Stathopoulos C, Say EAT, Shields CL
Graefes Arch Clin Exp Ophthalmol 2018 Apr;256(4):861-862. Epub 2017 Nov 19 doi: 10.1007/s00417-017-3841-4. PMID: 29151167
Orbital sarcomas in retinoblastoma patients: recommendations for screening and treatment guidelines.
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
Outpatient clinic for genetic counseling and gene testing of retinoblastoma.
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

Orbital sarcomas in retinoblastoma patients: recommendations for screening and treatment guidelines.
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
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.
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
The etiology of osteosarcoma.
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Retinoblastoma.
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

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.
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
The etiology of osteosarcoma.
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Trilateral retinoblastoma.
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
Retinoblastoma.
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

Bone and Soft-Tissue Sarcoma Risk in Long-Term Survivors of Hereditary Retinoblastoma Treated With Radiation.
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
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy.
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
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 etiology of osteosarcoma.
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Trilateral retinoblastoma.
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

Orbital sarcomas in retinoblastoma patients: recommendations for screening and treatment guidelines.
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
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.
Lohmann D
Adv Exp Med Biol 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. PMID: 20687510
Trilateral retinoblastoma.
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
Retinoblastoma.
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

Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors.
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
The etiology of osteosarcoma.
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Retinoblastoma.
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
Oncogenes and cancer: clinical applications.
Fishleder AJ
Cleve Clin J Med 1990 Nov-Dec;57(8):721-6. doi: 10.3949/ccjm.57.8.721. PMID: 2257681
Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene.
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

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
Malignant melanoma as second malignant neoplasm in long-term childhood cancer survivors: a systematic review.
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
Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma.
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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