Skip to main content
SpringerLink
Log in

Retinoblastom

Retinoblastoma

  • Weiterbildung•Zertifizierte Fortbildung
  • Published:
Der Ophthalmologe Aims and scope Submit manuscript

Zusammenfassung

Retinoblastome sind die häufigsten intraokularen Tumoren des Kindesalters. Unbehandelt führt dieser Tumor praktisch immer zum Tod des betroffenen Kindes. Mit den heute zur Verfügung stehenden Methoden und im Rahmen einer interdisziplinären Zusammenarbeit zwischen Augenarzt, Strahlentherapeut, pädiatrischem Onkologen und Humangenetiker kann eine Überlebenswahrscheinlichkeit von über 95% erreicht werden. Die molekulargenetische Erforschung der Entstehung des Retinoblastoms hat erheblich zum gegenwärtigen Wissen über die Entstehung maligner Tumoren und zur Schlüsselrolle des Rb1-Gens als Tumorsuppressorgen nicht nur in der Entstehung des Retinoblastoms, sondern auch anderer maligner Tumoren beigetragen.

Abstract

Retinoblastomas are the most frequent intraocular tumors in childhood. Untreated, the tumor is almost always fatal. Using a multidisciplinary approach combining the efforts of ophthalmologists, radiation oncologists, pediatric oncologists and geneticists a survival rate of more than 95% can be achieved. Molecular genetic research on the origin of retinoblastomas has substantially helped in our understanding of the origin of malignant tumors in general, as well as to the key role of the Rb-1 gene as a tumor suppressor.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Abb. 1
Abb. 2
Abb. 3a,b
Abb. 4
Abb. 5
Abb. 6
Abb. 7
Abb. 8
Abb. 9 a
Abb. 10
Abb. 11
Abb. 12
Abb. 13
Abb. 14
Abb. 15
Abb. 16
Abb. 17

Notes

  1. Ein „flyer“ mit Patienteninformationen ist bei der Elterninitiative zur Unterstützung krebskranker Kinder e.V. Essen (http://www.krebskranke-kinder-essen.de) erhältlich.

Literatur

  1. Aartsma-Rus A, Janson AA, Kaman WE et al. (2004) Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet 74:83–92

    Article  PubMed  Google Scholar 

  2. Abramson DH, Marks RF, Ellsworth RM et al. (1982) The management of unilateral retinoblastoma without primary enucleation. Arch Ophthalmol 100:1249–1252

    PubMed  Google Scholar 

  3. Abramson DH, Gamell LS, Ellsworth RM et al. (1994) Unilateral retinoblastoma: new intraocular tumours after treatment. Br J Ophthalmol 78:698–701

    PubMed  Google Scholar 

  4. Abramson DH, Frank CM (1998) Second nonocular tumors in survivors of bilateral retinoblastoma: a possible age effect on radiation-related risk. Ophthalmology 105:573–579

    Article  PubMed  Google Scholar 

  5. Abramson DH, Schefler AC (2004) Update on retinoblastoma. Retina 24:828–848

    Article  PubMed  Google Scholar 

  6. Bechrakis NE, Bornfeld N, Schüler A et al. (1998) Clinicopathologic features of retinoblastoma after primary chemoreduction. Arch Ophthalmol 116:887–893

    PubMed  Google Scholar 

  7. Bornfeld N, Schüler A, Bechrakis N et al. (1997) Preliminary results of primary chemotherapy in retinoblastoma. Klin Padiatr 209:216–221

    PubMed  Google Scholar 

  8. Chevez-Barrios P, Chintagumpala M, Mieler W et al. (2005) Response of retinoblastoma with vitreous tumor seeding to adenovirus-mediated delivery of thymidine kinase followed by ganciclovir. J Clin Oncol 23:7927–7935

    Article  PubMed  Google Scholar 

  9. De Potter P, Shields CL, Shields JA (1994) Clinical variations of trilateral retinoblastoma: a report of 13 cases. J Pediatr Ophthalmol Strabismus 31:26–31

    PubMed  Google Scholar 

  10. Eng C, Li FP, Abramson DH et al. (1993) Mortality from second tumors among long-term survivors of retinoblastoma. J Natl Cancer Inst 85:1121–1128

    PubMed  Google Scholar 

  11. Gallie BL, Budning A, DeBoer G et al. (1996) Chemotherapy with focal therapy can cure intraocular retinoblastoma without radiotherapy. Arch Ophthalmol 114:1321–1328

    PubMed  Google Scholar 

  12. Genuardi M, Klutz M, Devriendt K et al. (2001) Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. Eur J Hum Genet 9:690–694

    Article  PubMed  Google Scholar 

  13. Gombos DS, Kelly A, Coen PG et al. (2002) Retinoblastoma treated with primary chemotherapy alone: the significance of tumour size, location, and age. Br J Ophthalmol 86:80–83

    Article  PubMed  Google Scholar 

  14. Karcioglu ZA (2002) Fine needle aspiration biopsy (FNAB) for retinoblastoma. Retina 22:707–710

    Article  PubMed  Google Scholar 

  15. Kivelä T (1999) Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. J Clin Oncol 17:1829–1837

    PubMed  Google Scholar 

  16. Kremens B, Wieland R, Reinhard H et al. (2003) High-dose chemotherapy with autologous stem cell rescue in children with retinoblastoma. Bone Marrow Transplant 31:281–284

    Article  PubMed  Google Scholar 

  17. Laurie NA, Gray JK, Zhang J et al. (2005) Topotecan combination chemotherapy in two new rodent models of retinoblastoma. Clin Cancer Res 11:7569–7578

    PubMed  Google Scholar 

  18. Lidegaard O, Pinborg A, Andersen AN (2005) Imprinting diseases and IVF: Danish National IVF cohort study. Hum Reprod 20:950–954

    Article  PubMed  Google Scholar 

  19. Lohmann DR, Gerick M, Brandt B et al. (1997) Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am J Hum Genet 61:282–294

    PubMed  Google Scholar 

  20. Lohmann DR (1999) RB1 gene mutations in retinoblastoma. Hum Mutat 14:283–288

    Article  PubMed  Google Scholar 

  21. Lohmann DR, Gallie BL (2004) Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet 129:23–28

    Article  PubMed  Google Scholar 

  22. Moll AC, Imhof SM, Schouten-Van Meeteren AY et al. (2001) Second primary tumors in hereditary retinoblastoma: a register-based study, 1945–1997: is there an age effect on radiation-related risk? Ophthalmology 108:1109–1114

    Article  PubMed  Google Scholar 

  23. Moll AC, Imhof SM, Schouten-van Meeteren AY et al. (2003) In-vitro fertilisation and retinoblastoma. Lancet 361:1392

    Article  Google Scholar 

  24. Mulvihill A, Budning A, Jay V et al. (2003) Ocular motility changes after subtenon carboplatin chemotherapy for retinoblastoma. Arch Ophthalmol 121:1120–1124

    Article  PubMed  Google Scholar 

  25. Murphree AL, Villablanca JG, Deegan WF et al. (1996) Chemotherapy plus local treatment in the management of intraocular retinoblastoma. Arch Ophthalmol 114:1348–1356

    PubMed  Google Scholar 

  26. Murphree AL (2005) Intraocular retinoblastoma: the case for a new group classification. Ophthalmol Clin North Am 18:41–53, viii

    Article  PubMed  Google Scholar 

  27. Niemitz EL, Feinberg AP (2004) Epigenetics and assisted reproductive technology: a call for investigation. Am J Hum Genet 74:599–609

    Article  PubMed  Google Scholar 

  28. Noorani HZ, Khan HN, Gallie BL et al. (1996) Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet 59:301–307

    PubMed  Google Scholar 

  29. Schüler A, Weber S, Neuhauser M et al. (2005) Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect. Eur J Cancer 41:735–740

    Article  PubMed  Google Scholar 

  30. Schüler AO, Bornfeld N (2000) Aktuelle Therapieaspekte intraokularer Tumoren. Ophthalmologe 97:207–222

    Article  PubMed  Google Scholar 

  31. Schüler AO, Jurklies C, Heimann H et al. (2003) Thermochemotherapy in hereditary retinoblastoma. Br J Ophthalmol 87:90–95

    Article  PubMed  Google Scholar 

  32. Shields CL, De Potter P, Himelstein BP et al. (1996) Chemoreduction in the initial management of intraocular retinoblastoma. Arch Ophthalmol 114:1330–1338

    PubMed  Google Scholar 

  33. Shields CL, Shields JA, De Potter P (1996) New treatment modalities for retinoblastoma. Curr Opin Ophthalmol 7:20–26

    PubMed  Google Scholar 

  34. Shields CL, Meadows AT, Shields JA et al. (2001) Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma). Arch Ophthalmol 119:1269–1272

    PubMed  Google Scholar 

  35. Shields JA, Shields CL, Meadows AT (2005) Chemoreduction in the management of retinoblastoma. Am J Ophthalmol 140:505–506

    Article  PubMed  Google Scholar 

  36. Slamon DJ, Leyland-Jones B, Shak S et al. (2001) Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N Engl J Med 344:783–792

    Article  PubMed  Google Scholar 

  37. Toma NM, Hungerford JL, Plowman PN et al. (1995) External beam radiotherapy for retinoblastoma: II. Lens sparing technique. Br J Ophthalmol 79:112–117

    PubMed  Google Scholar 

  38. White L (1991) Chemotherapy for retinoblastoma: where do we go from here? A review of published literature and meeting abstracts, including discussions during the Vth International Symposium on Retinoblastoma, October 1990. Ophthalmic Paediatr Genet 12:115–130

    PubMed  Google Scholar 

  39. Wieland R, Lohmann D, Schüler A et al. (2004) Retinoblastom. In: Hiddemann W, Huber H, Bartram C (Hrsg) Die Onkologie. Springer, Berlin Heidelberg New YorkTokyo, S 1698–1707

Download references

Interessenkonflikt:

Es besteht kein Interessenkonflikt. Der korrespondierende Autor versichert, dass keine Verbindungen mit einer Firma, deren Produkt in dem Artikel genannt ist, oder einer Firma, die ein Konkurrenzprodukt vertreibt, bestehen. Die Präsentation des Themas ist unabhängig und die Darstellung der Inhalte produktneutral.

Author information

Authors and Affiliations

  1. Zentrum für Augenheilkunde, Universitätsklinikum Essen

    N. Bornfeld, A. Schüler, R. Bölöni & C. Jurklies

  2. Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Essen

    R. Wieland

  3. Strahlenklinik, Universitätsklinikum Essen

    W. Sauerwein

  4. Institut für Humangenetik, Universitätsklinikum Essen

    D. Lohmann

  5. Zentrum für Augenheilkunde, Universitätsklinikum Essen, Hufelandstraße 55, 45122 , Essen

    N. Bornfeld

Authors
  1. N. Bornfeld
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Schüler
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. Bölöni
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C. Jurklies
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. R. Wieland
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. W. Sauerwein
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. D. Lohmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to N. Bornfeld.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bornfeld, N., Schüler, A., Bölöni, R. et al. Retinoblastom. Ophthalmologe 103, 59–78 (2006). https://doi.org/10.1007/s00347-005-1296-1

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00347-005-1296-1

Schlüsselwörter

Keywords

Search

Navigation