Emphasizing on the importance of RB1 genetic testing in diagnosis/treatment and genetic counseling of retinoblastoma
10.3760/cma.j.issn.2095-0160.2018.10.002
- VernacularTitle:关注RB1基因突变检测在视网膜母细胞瘤诊疗及遗传咨询中的作用
- Author:
Danian CHEN
1
,
2
;
Yimeng FAN
Author Information
1. 610041成都,四川大学华西医院眼科学研究室
2. M5G IX5多伦多,多伦多大学眼科及西奈山医院研究所
- Keywords:
Retinoblastoma;
RB1 gene;
Gene mutation;
Genetic testing;
Genetic counseling
- From:
Chinese Journal of Experimental Ophthalmology
2018;36(10):742-747
- CountryChina
- Language:Chinese
-
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.
