Neonatal Retinoblastoma
- PMID: 28695165
- PMCID: PMC5473090
- DOI: 10.4103/apjon.apjon_18_17
Neonatal Retinoblastoma
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.
Conflict of interest statement
There are no conflicts of interest.
Figures
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References
-
- Halperin EC. Neonatal neoplasms. Int J Radiat Oncol Biol Phys. 2000;47:171–8. - PubMed
-
- 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
-
- Abramson DH, Du TT, Beaverson KL. (Neonatal) retinoblastoma in the first month of life. Arch Ophthalmol. 2002;120:738–42. - PubMed
-
- 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
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