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Non-hereditary retinoblastoma

MedGen UID:
1842255
•Concept ID:
C5680987
•
Neoplastic Process
Synonym: non-hereditary retinoblastoma
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018161
Orphanet: ORPHA357034

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNon-hereditary retinoblastoma

Professional guidelines

PubMed

Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling.
Munier FL, Thonney F, Balmer A, Héon E, Pescia G, Schorderet DF
Klin Monbl Augenheilkd 1996 May;208(5):400-3. doi: 10.1055/s-2008-1035252. PMID: 8766064

Recent clinical studies

Etiology

Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.
Jiménez I, Frouin É, Chicard M, Dehainault C, Le Gall J, Benoist C, Gauthier A, Lapouble E, Houdayer C, Radvanyi F, Bernard V, Brisse HJ, Gauthier-Villars M, Stoppa-Lyonnet D, Baulande S, Cassoux N, Lumbroso L, Matet A, Aerts I, Renault V, Doz F, Golmard L, Delattre O, Schleiermacher G
Eur J Cancer 2021 Sep;154:277-287. Epub 2021 Jul 20 doi: 10.1016/j.ejca.2021.05.039. PMID: 34298378
Quality of life of adult retinoblastoma survivors in the Netherlands.
van Dijk J, Imhof SM, Moll AC, Ringens PJ, Cohen-Kettenis PT, Rijmen F, Huisman J
Health Qual Life Outcomes 2007 Jun 4;5:30. doi: 10.1186/1477-7525-5-30. PMID: 17547767Free PMC Article
Second primary tumours in hereditary- and nonhereditary retinoblastoma patients treated with megavoltage external beam irradiation.
Imhof SM, Moll AC, Hofman P, Mourits MP, Schipper J, Tan KE
Doc Ophthalmol 1997;93(4):337-44. doi: 10.1007/BF02569071. PMID: 9665291
Somatic and germinal mutations of tumor-suppressor genes in the development of cancer.
Sasaki MS, Kato M, Toguchida J, Yamaguchi T, Ejima Y, Ishizaki K, Kaneko A, Tanooka H
J Radiat Res 1991 Dec;32 Suppl 2:266-76. doi: 10.1269/jrr.32.supplement2_266. PMID: 1823363
Non-ocular cancer in patients with hereditary retinoblastoma and their relatives.
DerKinderen DJ, Koten JW, Nagelkerke NJ, Tan KE, Beemer FA, Den Otter W
Int J Cancer 1988 Apr 15;41(4):499-504. doi: 10.1002/ijc.2910410405. PMID: 3356485

Diagnosis

Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.
Jiménez I, Frouin É, Chicard M, Dehainault C, Le Gall J, Benoist C, Gauthier A, Lapouble E, Houdayer C, Radvanyi F, Bernard V, Brisse HJ, Gauthier-Villars M, Stoppa-Lyonnet D, Baulande S, Cassoux N, Lumbroso L, Matet A, Aerts I, Renault V, Doz F, Golmard L, Delattre O, Schleiermacher G
Eur J Cancer 2021 Sep;154:277-287. Epub 2021 Jul 20 doi: 10.1016/j.ejca.2021.05.039. PMID: 34298378
Imprinting of RB1 (the new kid on the block).
Buiting K, Kanber D, Horsthemke B, Lohmann D
Brief Funct Genomics 2010 Jul;9(4):347-53. Epub 2010 Jun 15 doi: 10.1093/bfgp/elq014. PMID: 20551090
Second primary tumours in hereditary- and nonhereditary retinoblastoma patients treated with megavoltage external beam irradiation.
Imhof SM, Moll AC, Hofman P, Mourits MP, Schipper J, Tan KE
Doc Ophthalmol 1997;93(4):337-44. doi: 10.1007/BF02569071. PMID: 9665291
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.
Blanquet V, Turleau C, Gross-Morand MS, Sénamaud-Beaufort C, Doz F, Besmond C
Hum Mol Genet 1995 Mar;4(3):383-8. doi: 10.1093/hmg/4.3.383. PMID: 7795591
X-radiation-induced chromosome breakage in retinoblastoma lymphocytes.
García Heras J, Coco R
Mutat Res 1987 Jun;178(2):225-33. doi: 10.1016/0027-5107(87)90273-9. PMID: 3587253

Therapy

Second primary tumors in patients with hereditary retinoblastoma: a register-based follow-up study, 1945-1994.
Moll AC, Imhof SM, Bouter LM, Kuik DJ, Den Otter W, Bezemer PD, Koten JW, Tan KE
Int J Cancer 1996 Aug 7;67(4):515-9. doi: 10.1002/(SICI)1097-0215(19960807)67:4<515::AID-IJC9>3.0.CO;2-V. PMID: 8759610

Prognosis

Quality of life of adult retinoblastoma survivors in the Netherlands.
van Dijk J, Imhof SM, Moll AC, Ringens PJ, Cohen-Kettenis PT, Rijmen F, Huisman J
Health Qual Life Outcomes 2007 Jun 4;5:30. doi: 10.1186/1477-7525-5-30. PMID: 17547767Free PMC Article
Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.
Alonso J, Frayle H, Menéndez I, López A, García-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestaña A
Hum Mutat 2005 Jan;25(1):99. doi: 10.1002/humu.9299. PMID: 15605413
Second primary tumours in hereditary- and nonhereditary retinoblastoma patients treated with megavoltage external beam irradiation.
Imhof SM, Moll AC, Hofman P, Mourits MP, Schipper J, Tan KE
Doc Ophthalmol 1997;93(4):337-44. doi: 10.1007/BF02569071. PMID: 9665291
Incidence and survival of retinoblastoma in The Netherlands: a register based study 1862-1995.
Moll AC, Kuik DJ, Bouter LM, Den Otter W, Bezemer PD, Koten JW, Imhof SM, Kuyt BP, Tan KE
Br J Ophthalmol 1997 Jul;81(7):559-62. doi: 10.1136/bjo.81.7.559. PMID: 9290369Free PMC Article
Second primary tumors in patients with hereditary retinoblastoma: a register-based follow-up study, 1945-1994.
Moll AC, Imhof SM, Bouter LM, Kuik DJ, Den Otter W, Bezemer PD, Koten JW, Tan KE
Int J Cancer 1996 Aug 7;67(4):515-9. doi: 10.1002/(SICI)1097-0215(19960807)67:4<515::AID-IJC9>3.0.CO;2-V. PMID: 8759610

Clinical prediction guides

Imprinting of RB1 (the new kid on the block).
Buiting K, Kanber D, Horsthemke B, Lohmann D
Brief Funct Genomics 2010 Jul;9(4):347-53. Epub 2010 Jun 15 doi: 10.1093/bfgp/elq014. PMID: 20551090
Quality of life of adult retinoblastoma survivors in the Netherlands.
van Dijk J, Imhof SM, Moll AC, Ringens PJ, Cohen-Kettenis PT, Rijmen F, Huisman J
Health Qual Life Outcomes 2007 Jun 4;5:30. doi: 10.1186/1477-7525-5-30. PMID: 17547767Free PMC Article
Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.
Alonso J, Frayle H, Menéndez I, López A, García-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestaña A
Hum Mutat 2005 Jan;25(1):99. doi: 10.1002/humu.9299. PMID: 15605413
X-radiation-induced chromosome breakage in retinoblastoma lymphocytes.
García Heras J, Coco R
Mutat Res 1987 Jun;178(2):225-33. doi: 10.1016/0027-5107(87)90273-9. PMID: 3587253

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