Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Jul-Sep;4(3):197-204.
doi: 10.4103/apjon.apjon_18_17.

Neonatal Retinoblastoma

Affiliations
Review

Neonatal Retinoblastoma

Tero T Kivelä et al. Asia Pac J Oncol Nurs. 2017 Jul-Sep.

Abstract

From 7% to 10% of all retinoblastomas and from 44% to 71% of familial retinoblastomas in developed countries are diagnosed in the neonatal period, usually through pre- or post-natal screening prompted by a positive family history and sometimes serendipitously during screening for retinopathy of prematurity or other reasons. In developing countries, neonatal diagnosis of retinoblastoma has been less common. Neonatal retinoblastoma generally develops from a germline mutation of RB1, the retinoblastoma gene, even when the family history is negative and is thus usually hereditary. At least one-half of infants with neonatal retinoblastoma have unilateral tumors when the diagnosis is made, typically the International Intraocular Retinoblastoma Classification (Murphree) Group B or higher, but most germline mutation carriers will progress to bilateral involvement, typically Group A in the fellow eye. Neonatal leukokoria usually leads to the diagnosis in children without a family history of retinoblastoma, and a Group C tumor or higher is typical in the more advanced involved eye. Almost all infants with neonatal retinoblastoma have at least one eye with a tumor in proximity to the foveola, but the macula of the fellow eye is frequently spared. Consequently, loss of reading vision from both eyes is exceptional. A primary ectopic intracranial neuroblastic tumor known as trilateral retinoblastoma is no more common after neonatal than other retinoblastoma. For many reasons, neonatal retinoblastoma may be a challenge to eradicate, and the early age at diagnosis and relatively small tumors do not guarantee the preservation of both eyes of every involved child. Oncology nurses can be instrumental in contributing to better outcomes by ensuring that hereditary retinoblastoma survivors receive genetic counseling, by referring families of survivors to early screening programs when they are planning for a baby, and by providing psychological and practical support for parents when neonatal retinoblastoma has been diagnosed.

Keywords: Germline mutation; neonatal cancer; prenatal diagnosis; retinoblastoma.

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Neonatal retinoblastomas detected through screening of familial mutation carriers. Group B perifoveal 2 mm tumor as first detected during screening at the age of 10 days (a, arrowhead) and immediately after infrared diode laser transpupillary thermotherapy (b). At the age of 1 month, the tumor is replaced with a scar (c) and the first 1 mm Group A tumor is diagnosed in the fellow eye. (d, arrowhead). Group B perifoveal 1.5 mm tumor as first detected during screening at the age of 18 days (e, arrowhead) and immediately after transpupillary thermotherapy (f). At the age of 4 months, after additional thermotherapy sessions, the tumor is replaced with a scar. (g) and the first 1.5 mm Group A tumor is diagnosed in the fellow eye (h, arrowhead)
Figure 2
Figure 2
Neonatal retinoblastomas either causing leukokoria (a-d) or serendipitously detected through unrelated screening (e-h). Group B peripapillary 3 mm tumor and three smaller tumors detected during screening at the age of 3 days (a, arrowheads) with leukokoria already noted from a larger macular Group B retinoblastoma in a familial mutation carrier; a small second tumor is also visible (b, arrowhead). Group C macular tumor with focal vitreous seeding detected after leukokoria was noted at the age of 23 days; a small second tumor is also visible (c, arrowhead). At the age of 3 months, the first 0.5 mm Group A tumor is diagnosed in the fellow eye; meanwhile, a germline mutation that was not found in the parents was detected (d, arrowhead). Group B peripapillary 4.5 mm tumor surrounded by subretinal bleeding as detected during ocular screening during a neurologic workup at the age of 12 days (e). Fluorescein angiography shows prominent arterial circulation in the tumor (f) that regressed with chemoreduction (g, arrowhead) that was followed by infrared diode laser transpupillary thermotherapy (h).
Figure 3
Figure 3
Recurrence of a neonatal retinoblastoma (arrowhead) several months following clinically complete initial regression obtained with infrared diode laser transpupillary thermotherapy

Similar articles

Cited by

References

    1. Halperin EC. Neonatal neoplasms. Int J Radiat Oncol Biol Phys. 2000;47:171–8. - PubMed
    1. Moore SW, Satgé D, Sasco AJ, Zimmermann A, Plaschkes J. The epidemiology of neonatal tumours. Report of an international working group. Pediatr Surg Int. 2003;19:509–19. - PubMed
    1. Abramson DH, Du TT, Beaverson KL. (Neonatal) retinoblastoma in the first month of life. Arch Ophthalmol. 2002;120:738–42. - PubMed
    1. Campbell AN, Chan HS, O'Brien A, Smith CR, Becker LE. Malignant tumours in the neonate. Arch Dis Child. 1987;62:19–23. - PMC - PubMed
    1. Xue H, Horwitz JR, Smith MB, Lally KP, Black CT, Cangir A, et al. Malignant solid tumors in neonates: A 40-year review. J Pediatr Surg. 1995;30:543–5. - PubMed