Trilateral Retinoblastoma: Diagnosis Using Magnetic Resonance Imaging

  • Elżbieta JurkiewiczEmail author
  • Olga Rutynowska
  • Danuta Perek
Part of the Pediatric Cancer book series (PECA, volume 3)


Retinoblastoma is the most common pediatric intraocular neoplasm and accounts for ∼3% of pediatric malignant tumors, affecting approximately 1 in 18,000 children under 5 years of age in the U.S. It is a highly malignant tumor of the primitive neural retina. Histologically, retinoblastoma develops from immature retinal cells and replaces the retina and other intraocular tissues. Neoplastic cell proliferation is caused by the inactivation of both copies of a tumor suppressor gene (Rb1) that participates in the control of cell cycling. Occasionally patients with ocular hereditary retinoblastoma have an associated independent primary midline intracranial neuroblastic tumor. This syndrome is called trilateral retinoblastoma. Midline intracranial tumors are typically located in the pineal region, but occurrences in the sellar and suprasellar regions are also found. The prognosis for trilateral retinoblastoma is markedly worse, with a high rate of subarachnoid tumor spread. The mean survival in this group of patients after treatment is about 9 months. An association between pineal cysts and hereditary retinoblastoma has been described in the recent literature, found that the prevalence of pineal cysts in children with bilateral, hereditary retinoblastoma was statistically significant compared with that in patients with unilateral retinoblastoma. Pineal cysts are supposed to be a benign variant of trilateral retinoblastoma. MR imaging has become a very useful diagnostic tool in evaluation of patients with retinoblastoma. MR is the imaging modality of choice in detection of leptomeningeal spread of the tumor and evaluation of primary intracranial tumors that can be associated with retinoblastoma. On the basis of some cases in which intracranial midline tumors were diagnosed earlier than intraocular lesions, we strongly recommend very careful ophthalmologic and imaging examinations of orbits in all children below 4 years of age with a intracranial midline primary tumor.

A screening schedule for patients with the hereditary form of retinoblastoma should be established, especially for those children with a pineal cyst.


Pineal Region Suprasellar Region Neuroblastic Tumor Pineal Tumor Primary Intracranial Tumor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Aaby AA, Price RL, Zakov ZN (1983) Spontaneously regressing retinoblastomas, retinoma, or retinoblastoma group O. Am J Ophthalmol 96:315–320PubMedGoogle Scholar
  2. Amoaku WMK, Willshaw HE, Parkes SE, Shah KJ, Mann JR (1996) Trilateral retinoblastoma: a report of five patients. Cancer 78:858–863PubMedCrossRefGoogle Scholar
  3. Bader JL, Miller RW, Meadows AT, Zimmerman LE, Champion LA, Voute PA (1980) Trilateral retinoblastoma. Lancet 2:582–583PubMedCrossRefGoogle Scholar
  4. Bagley LJ, Hurst RW, Zimmerman RA, Shields JA, Shields CL, De Potter P (1996) Imaging in the trilateral retinoblastoma syndrome. Neuroradiology 38:166–170PubMedCrossRefGoogle Scholar
  5. Barboriak DP, Lee L, Provenzale JM (2001) Serial MR imaging of pineal cysts: Implication for natural history and follow-up. AJR Am J Roentgenol 176:737–743PubMedCrossRefGoogle Scholar
  6. Beck Popovic M, Balmer A, Maeder P, Braganca T, Munier FL (2006) Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma? Pediatr Blood Cancer 46:755–761PubMedCrossRefGoogle Scholar
  7. Bejjani GK, Donahue DJ, Selby D, Cohen PH, Packer R (1996) Association of a suprasellar mass and intraocular retinoblastoma: a variant of pineal trilateral retinoblastoma? Pediatr Neurosurg 25:269–275PubMedCrossRefGoogle Scholar
  8. Brisse HJ, Lumbroso L, Fréneaux PC, Validire P, Doz FP, Quintana EJ, Berges O, Desjardins LC, Neuenschwander SC (2001) Sonographic, CT, and MR imaging findings in diffuse infiltrative retinoblastoma: report of two cases with histologic comparison. AJNR Am J Neuroradiol 22:499–504PubMedGoogle Scholar
  9. Butros LJ, Abramson DH, Dunkel IJ (2002) Delayed diagnosis of the retinoblastoma: analysis of degree, cause, and potential consequences. Pediatrics 109(3):E45PubMedCrossRefGoogle Scholar
  10. Cho EY, Suh Y-L, Shin H-J (2002) Trilateral retinoblastoma: a case report. J Korean Med Sci 17:137–140PubMedCentralPubMedGoogle Scholar
  11. De Potter P, Shields CL, Shields JA (1994) Clinical variations of trilateral retinoblastoma: a report of 13 cases. J Pediatr Ophthalmol Strabismus 31:26–31PubMedGoogle Scholar
  12. Devesa SS (1975) The incidence of retinoblastoma. Am J Ophthalmol 80:263–265PubMedGoogle Scholar
  13. Dryja TP, Mukai S, Rapaport JM, Yandell DW (1989) Parental origin of mutations of the retinoblastoma gene. Nature 339:556–558PubMedCrossRefGoogle Scholar
  14. Finelli DA, Shurin SB, Bardenstein DS (1995) Trilateral retinoblastoma: two variations. AJNR Am J Neuroradiol 16:166–170PubMedGoogle Scholar
  15. Fleege MA, Miller GM, Fletcher GP, Fain JS, Scheithauer BW (1994) Benign glial cysts of the pineal gland: unusual imaging characteristics with histologic correlation. AJNR Am J Neuroradiol 15:161–166PubMedGoogle Scholar
  16. Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323:643–646PubMedCrossRefGoogle Scholar
  17. Goddard AG, Kingston JE, Hungerford JL (1999) Delay in diagnosis of retinoblastoma: risk factors and treatment outcome. Br J Ophthalmol 83:1320–1323PubMedCrossRefGoogle Scholar
  18. Ibarra MS, O’Brien JM (2000) Is screening for primitive neuroectodermal tumours in patients with unilateral retinoblastoma necessary? J AAPOS 4:54–56PubMedCrossRefGoogle Scholar
  19. Jakobiec FA, Tso MO, Zimmerman LE, Danis P (1977) Retinoblastoma and intracranial malignancy. Cancer 39(5):2048–2058PubMedCrossRefGoogle Scholar
  20. Karatza EC, Shield EJ, Flader EA, Gonzalez M, Shields JA (2006) Pineal cyst simulating pinealoblastoma in 11 children with retinoblastoma. Arch Ophthalmol 124:595–597PubMedCrossRefGoogle Scholar
  21. Katayama Y, Tsubokawa T, Yamamoto T, Nemoto N (1991) Ectopic retinoblastoma within the 3rd ventricle: case report. Neurosurgery 28:158–161PubMedCrossRefGoogle Scholar
  22. Kato MV, Ishizaki K, Shimizu T, Ejima Y, Tanooka H, Takayama J, Kaneko A, Toguchida J, Sasaki MS (1994) Parental origin of germ-line and somatic mutations in the retinoblastoma gene. Hum Genet 94:31–38PubMedCrossRefGoogle Scholar
  23. Kivelä T (1999) Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. J Clin Oncol 17(6):1829–1837PubMedGoogle Scholar
  24. Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68:820–823PubMedCentralPubMedCrossRefGoogle Scholar
  25. Leal-Leal C, Flores-Rojo M, Medina-Sanson A, Cerecedo-Díaz F, Sánchez-Félix S, González-Ramella O, Pérez-Pérez F, Gómez-Martínez R, Quero-Hernández A, Altamirano-Álvarez E, Alejo-González F, Figueroa-Carbajal J, Ellis-Irigoyen A, Tejocote-Romero I, Cervantes-Paz R, Pantoja-Guillén F, Vega-Vega L, Carrete-Ramírez F (2004) A multicentre report from the Mexican Retinoblastoma Group. Br J Ophthalmol 88:1074–1077PubMedCrossRefGoogle Scholar
  26. Moll AC, Imhof SM, Kuik DJ, Bouter LM, Den Otter W, Bezemer PD, Koten JW, Tan KE (1996) High parental age is associated with sporadic hereditary retinoblastoma: the Dutch Retinoblastoma Register 1862–1994. Hum Genet 98:109–112PubMedCrossRefGoogle Scholar
  27. Mouratova T (2005) Trilateral retinoblastoma: a literature review, 1971–2004. Bull Soc Belge Ophtalmol 297:25–35PubMedGoogle Scholar
  28. Orjuela M, Castaneda VP, Ridaura C, Lecona E, Leal C, Abramson DH, Orlow I, Gerald W, Cordon-Cardo C (2000) Presence of human papilloma virus in tumor tissue from children with retinoblastoma: an alternative mechanism for tumor development. Clin Cancer Res 6:4010–4016PubMedGoogle Scholar
  29. Parkin DM, Kramarowa E, Draper GJ, Masuyer E, Michaelis J, Neglia JP, Quereshi S, Stiller CA (1998) International incidence of childhood cancer. Inter­na­tional Agency for Research on Cancer, LyonGoogle Scholar
  30. Paulino AC (1999) Trilateral retinoblastoma: is the location of the intracranial tumour important? Cancer 86:135–141PubMedCrossRefGoogle Scholar
  31. Popovic MB, Diezi M, Kuchler H, Abouzeid H, Maeder P, Balmer A, Munier FL (2007) Trilateral retinoblastoma with suprasellar tumor and associated pineal cyst. J Pediatr Hematol Oncol 29:53–56PubMedCrossRefGoogle Scholar
  32. Provenzale JM, Weber A, Klintworth GK, McLendon RE (1995) Radiologic-pathologic correlation. Bilateral retino­blastoma with coexistent pinealoblastoma (trilateral retinoblastoma). AJNR Am J Neuroradiol 16:157–165PubMedGoogle Scholar
  33. Provenzale JM, Gururangan S, Klintworth G (2004) Trilateral retinoblastoma: clinical and radiologic progression. Am J Roentgenol 183(2):505–511CrossRefGoogle Scholar
  34. Sener RN (1995) The pineal gland: a comparative MR imaging study in children and adults with respect to normal anatomical variations and pineal cysts. Pediatr Radiol 25:245–248PubMedCrossRefGoogle Scholar
  35. Shields CL, Meadows AT, Shields JA, Carvalho C, Smith AF (2001) Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (Trilateral retinoblastoma). Arch Ophtalmol 119:1269–1272CrossRefGoogle Scholar
  36. Yip BH, Pawitan Y, Czene K (2006) Parental age and risk of childhood cancers: a population-based cohort study from Sweden. Int J Epidemiol 35:1495–1503PubMedCrossRefGoogle Scholar
  37. Zhu X, Dunn J, Philips R, Goddard A, Paton K, Becker A, Gallie B (1989) Preferential germ line mutation of the paternal allele in retinoblastoma. Nature 340:312–313PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Elżbieta Jurkiewicz
    • 1
    Email author
  • Olga Rutynowska
    • 1
  • Danuta Perek
    • 1
  1. 1.Department of Radiology, MR UnitThe Children’s Memorial Hospital Health InstituteWarsawPoland

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