Skip to main content
SpringerLink
Log in

Trilateral Retinoblastoma: Diagnosis Using Magnetic Resonance Imaging

  • Chapter
  • First Online:
Pediatric Cancer, Volume 3

Part of the book series: Pediatric Cancer ((PECA,volume 3))

  • 1104 Accesses

Abstract

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.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Aaby AA, Price RL, Zakov ZN (1983) Spontaneously regressing retinoblastomas, retinoma, or retinoblastoma group O. Am J Ophthalmol 96:315–320

    CAS  PubMed  Google Scholar 

  • Amoaku WMK, Willshaw HE, Parkes SE, Shah KJ, Mann JR (1996) Trilateral retinoblastoma: a report of five patients. Cancer 78:858–863

    Article  CAS  PubMed  Google Scholar 

  • Bader JL, Miller RW, Meadows AT, Zimmerman LE, Champion LA, Voute PA (1980) Trilateral retinoblastoma. Lancet 2:582–583

    Article  CAS  PubMed  Google Scholar 

  • Bagley LJ, Hurst RW, Zimmerman RA, Shields JA, Shields CL, De Potter P (1996) Imaging in the trilateral retinoblastoma syndrome. Neuroradiology 38:166–170

    Article  CAS  PubMed  Google Scholar 

  • Barboriak DP, Lee L, Provenzale JM (2001) Serial MR imaging of pineal cysts: Implication for natural history and follow-up. AJR Am J Roentgenol 176:737–743

    Article  CAS  PubMed  Google Scholar 

  • 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 46:755–761

    Article  PubMed  Google Scholar 

  • 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 25:269–275

    Article  CAS  PubMed  Google Scholar 

  • 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 22:499–504

    CAS  PubMed  Google Scholar 

  • Butros LJ, Abramson DH, Dunkel IJ (2002) Delayed diagnosis of the retinoblastoma: analysis of degree, cause, and potential consequences. Pediatrics 109(3):E45

    Article  PubMed  Google Scholar 

  • Cho EY, Suh Y-L, Shin H-J (2002) Trilateral retinoblastoma: a case report. J Korean Med Sci 17:137–140

    PubMed Central  PubMed  Google Scholar 

  • 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 

  • Devesa SS (1975) The incidence of retinoblastoma. Am J Ophthalmol 80:263–265

    CAS  PubMed  Google Scholar 

  • Dryja TP, Mukai S, Rapaport JM, Yandell DW (1989) Parental origin of mutations of the retinoblastoma gene. Nature 339:556–558

    Article  CAS  PubMed  Google Scholar 

  • Finelli DA, Shurin SB, Bardenstein DS (1995) Trilateral retinoblastoma: two variations. AJNR Am J Neuroradiol 16:166–170

    CAS  PubMed  Google Scholar 

  • 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 15:161–166

    CAS  PubMed  Google Scholar 

  • 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 323:643–646

    Article  CAS  PubMed  Google Scholar 

  • Goddard AG, Kingston JE, Hungerford JL (1999) Delay in diagnosis of retinoblastoma: risk factors and treatment outcome. Br J Ophthalmol 83:1320–1323

    Article  CAS  PubMed  Google Scholar 

  • Ibarra MS, O’Brien JM (2000) Is screening for primitive neuroectodermal tumours in patients with unilateral retinoblastoma necessary? J AAPOS 4:54–56

    Article  CAS  PubMed  Google Scholar 

  • Jakobiec FA, Tso MO, Zimmerman LE, Danis P (1977) Retinoblastoma and intracranial malignancy. Cancer 39(5):2048–2058

    Article  CAS  PubMed  Google Scholar 

  • Karatza EC, Shield EJ, Flader EA, Gonzalez M, Shields JA (2006) Pineal cyst simulating pinealoblastoma in 11 children with retinoblastoma. Arch Ophthalmol 124:595–597

    Article  PubMed  Google Scholar 

  • Katayama Y, Tsubokawa T, Yamamoto T, Nemoto N (1991) Ectopic retinoblastoma within the 3rd ventricle: case report. Neurosurgery 28:158–161

    Article  CAS  PubMed  Google Scholar 

  • 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 94:31–38

    Article  CAS  PubMed  Google Scholar 

  • Kivelä T (1999) Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. J Clin Oncol 17(6):1829–1837

    PubMed  Google Scholar 

  • Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68:820–823

    Article  PubMed Central  PubMed  Google Scholar 

  • 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 88:1074–1077

    Article  CAS  PubMed  Google Scholar 

  • 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 98:109–112

    Article  CAS  PubMed  Google Scholar 

  • Mouratova T (2005) Trilateral retinoblastoma: a literature review, 1971–2004. Bull Soc Belge Ophtalmol 297:25–35

    PubMed  Google Scholar 

  • 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 6:4010–4016

    CAS  PubMed  Google Scholar 

  • 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, Lyon

    Google Scholar 

  • Paulino AC (1999) Trilateral retinoblastoma: is the location of the intracranial tumour important? Cancer 86:135–141

    Article  CAS  PubMed  Google Scholar 

  • 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 29:53–56

    Article  PubMed  Google Scholar 

  • Provenzale JM, Weber A, Klintworth GK, McLendon RE (1995) Radiologic-pathologic correlation. Bilateral retino­blastoma with coexistent pinealoblastoma (trilateral retinoblastoma). AJNR Am J Neuroradiol 16:157–165

    CAS  PubMed  Google Scholar 

  • Provenzale JM, Gururangan S, Klintworth G (2004) Trilateral retinoblastoma: clinical and radiologic progression. Am J Roentgenol 183(2):505–511

    Article  Google Scholar 

  • 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 25:245–248

    Article  CAS  PubMed  Google Scholar 

  • Shields CL, Meadows AT, Shields JA, Carvalho C, Smith AF (2001) Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (Trilateral retinoblastoma). Arch Ophtalmol 119:1269–1272

    Article  CAS  Google Scholar 

  • Yip BH, Pawitan Y, Czene K (2006) Parental age and risk of childhood cancers: a population-based cohort study from Sweden. Int J Epidemiol 35:1495–1503

    Article  PubMed  Google Scholar 

  • 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 340:312–313

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, MR Unit, The Children’s Memorial Hospital Health Institute, Warsaw, Poland

    Elżbieta Jurkiewicz, Olga Rutynowska & Danuta Perek

Authors
  1. Elżbieta Jurkiewicz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Olga Rutynowska
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Danuta Perek
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Elżbieta Jurkiewicz .

Editor information

Editors and Affiliations

  1. Biology, Kean University, Union, New Jersey, USA

    M.A. Hayat

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer Science+Business Media Dordrecht

About this chapter

Cite this chapter

Jurkiewicz, E., Rutynowska, O., Perek, D. (2012). Trilateral Retinoblastoma: Diagnosis Using Magnetic Resonance Imaging. In: Hayat, M. (eds) Pediatric Cancer, Volume 3. Pediatric Cancer, vol 3. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-4528-5_20

Download citation

Publish with us

Policies and ethics

Search

Navigation