Emphasizing on the importance of RB1 genetic testing in diagnosis/treatment and genetic counseling of retinoblastoma

Authors: Chen Danian,  Fan Yimeng

DOI: 10.3760/cma.j.issn.2095-0160.2018.10.002
Published 2018-10-10
Cite as Chin J Exp Ophthalmol, 2018,36(10): 742-747.

Abstract

Retinoblastoma (RB) is the prototype of hereditary neoplasms in humans.It is the most common intraocular malignancy in children, which is mainly caused by RB1 gene mutation.RB1 genetic testing and genetic counseling supports optimal care and follow-up plan for RB patients and their families.RB is the first cancer to officially acknowledge the seminal role of genetics in cancer, by incorporating “H” into the eighth edition of cancer staging (2017); those who carry the RB1 cancer-predisposing gene are H1; those proven to not carry the familial RB1 mutation are H0; and those at unknown risk are HX.However, due to the complexity of RB1 gene mutation, the limitation of current genetic test, the lack of genetic counseling specialty, there is limited application of genetic testing and counseling in China.In the era of precision medicine, we need to advocate the application of RB1 genetic testing in the management of RB patients in China.

Key words:

Retinoblastoma; RB1 gene; Gene mutation; Genetic testing; Genetic counseling

Contributor Information

Chen Danian
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University, Chengdu 610041, China; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Departments of Ophthalmology and Visual Science, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto M5G IX5 Canada
Fan Yimeng
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University, Chengdu 610041, China
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Updated: September 4, 2019 — 10:47 am