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.

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

“…Age. Seven to 10% of retinoblastomas are neonatal (Kivela and Hadjistilianou, 2017), being diagnosed during the first month of life and occasionally at birth. In general, retinoblastoma is diagnosed in children under 3 years of age, is rare after 8 years of age and typically not found after the age of 15 (Gatta et al, 2012;Park et al, 2014;Rangamani et al, 2015).…”

“…Early screening for retinoblastoma is advised for children with a positive family history of the disease. Intra-uterine and early postnatal retinoblastoma lesions are predominantly located in the posterior pole, where they are more likely to compromise vision (Kivela and Hadjistilianou, 2017;Soliman et al, 2016) and known for their rapid growth with an estimated doubling time of 2 weeks (Shah et al, 2010).…”

“…A recent retrospective observational study suggested that induced early delivery (by 37 weeks of gestation), which remains a controversial procedure (Gombos, 2012), might benefit the child carrying a mutated RB1 in terms of treatment-related morbidity and ultimate salvage of vision (Soliman et al, 2016). Noteworthy, when retinoblastoma is diagnosed during the neonatal period, at least half of the children initially have a unilateral rather than bilateral tumor, typically group B, but almost all germline mutation carriers later progress to bilateral involvement (Kivela and Hadjistilianou, 2017;Soliman et al, 2016). On the other hand, all infants with neonatal retinoblastoma have at least one eye with a tumor close to the foveola, whereas the macula of the fellow eye is often spared and loss of reading vision from both eyes is consequently infrequent (Imhof et al, 2006;Kivela and Hadjistilianou, 2017;Soliman et al, 2016).…”

Survival and ocular preservation in a long-term cohort of Japanese patients with retinoblastoma

“…To reduce the late effects, single-agent systemic chemotherapy may be recommended for young infant as "bridge therapy" to provide time for the infant to grow to a size that permits successful arterial cannulation, at which time IAC can be performed [24]. On the other hand, standard chemotherapy protocols occasionally failed to treat the neonatal retinoblastoma because of the lack of a significant vascular supply in smaller tumor foci [25]. Recently, molecular targeted drugs and gene therapy have been reported as the promising therapeutic option for advanced cases and/or young infants with retinoblastoma [26][27][28].…”

LncRNA HOTAIR/miR‐613/c‐met axis modulated epithelial‐mesenchymal transition of retinoblastoma cells

“…Retinoblastoma, a primary ocular malignant tumour, is originated from infants’ retinal embryonic nuclear layer cells with a worldwide incidence of 0.005% 1. Currently, since most children have entered late‐stage retinoblastoma that represented high chance of ocular extraction, early diagnosis and treatment for retinoblastoma appeared to be quite critical 2, 3.…”