Prenatal versus Postnatal Screening for Familial Retinoblastoma

Soliman, Sameh E.; Dimaras, Helen; Khetan, Vikas; Gardiner, Joseph; Chan, Helen S. L.; Hèon, Elise; Gallie, Brenda L.

doi:10.1016/j.ophtha.2016.08.027

Cited by 58 publications

(53 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Indeed, some groups may recommend earlyterm delivery to minimize loss of central vision, as small lesions may not be detectable using current prenatal imaging (54,55). However, upon review of these data and current practices, the expert panel concluded that more data are needed to better understand the risks and benefits of early delivery for vision sparing.…”

Section: Prenatal Detection Of Rbmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

175

137

View full text Add to dashboard Cite

Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li-Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.

show abstract

Section: Prenatal Detection Of Rbmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

175

137

View full text Add to dashboard Cite

show abstract

“…It is interesting that participants made reference to prevention, as this idea is presently at the forefront of cancer research. For retinoblastoma, prevention is not yet a reality, however early prediction through genetic testing can result in early diagnosis with less advanced disease, which is treatable with less intensive therapy and results in better visual outcomes (Soliman et al 2016). Pre-implantation genetic diagnosis is also an option for survivors wishing to avoid retinoblastoma in their children (Xu et al 2004).…”

Section: Discussionmentioning

confidence: 99%

“Where Does it Come from?” Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya

Gedleh

Lee

Hill

et al. 2017

Journal of Genetic Counseling

Self Cite

View full text Add to dashboard Cite

Genetic testing and counseling have become integral to the timely control of heritable cancers, like the childhood eye cancer retinoblastoma. This study aimed to determine attitudes, knowledge and experiences related to retinoblastoma genetics, among survivors and parents of children with retinoblastoma in Kenya. This qualitative study used focus groups as the primary data collection method, coupled with a brief demographic questionnaire. Study settings were Kenyatta National Hospital and Presbyterian Church of East Africa Kikuyu Hospital. Thematic analysis was used to identify key themes. Thirty-one individuals participated in five focus groups. Two main concepts emerged: (1) the origins of retinoblastoma are unclear, and (2) retinoblastoma is associated with significant challenges. The lack of clarity surrounding the origins of retinoblastoma was linked to limited knowledge of retinoblastoma genetics, and limited genetic counseling delivery and uptake. The challenges associated with retinoblastoma were discussed in terms of the impact of the diagnosis on individuals and families, and unmet healthcare needs related to the diagnosis. Next steps will incorporate these findings to develop evidence-informed and accessible cancer genetic services in Kenya.

show abstract

“…For all families with heritable retinoblastoma, the “visible feature” of retinoblastoma that allows early detection is knowledge of the RB1 mutation. Prenatal genetic detection coupled with early‐term delivery (37–38 weeks’ gestation) of the affected infant allows clinical teams to monitor the newborn's retina for the earliest sign of tumor and treat it immediately (Soliman et al, ).…”

Section: Retinoblastoma Overviewmentioning

confidence: 99%

Retinoblastoma, the visible CNS tumor: A review

Dimaras

Corson

2018

J of Neuroscience Research

Self Cite

139

112

View full text Add to dashboard Cite

The pediatric ocular cancer retinoblastoma is the only central nervous system (CNS) tumor readily observed without specialized equipment: it can be seen by, and in, the naked eye. This accessibility enables unique imaging modalities. Here, we review this cancer for a neuroscience audience, highlighting these clinical and research imaging options, including fundus imaging, optical coherence tomography, ultrasound, and magnetic resonance imaging. We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations. Retinoblastoma research and clinical care can offer insights applicable to CNS malignancies, and also benefit from approaches developed elsewhere in the CNS.

show abstract

Prenatal versus Postnatal Screening for Familial Retinoblastoma

Cited by 58 publications

References 37 publications

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

“Where Does it Come from?” Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya

Retinoblastoma, the visible CNS tumor: A review

Contact Info

Product

Resources

About