Retinoblastoma (Rb) is the most prevalent intraocular malignancy in children, with a worldwide survival rate <30%. We have developed a cancerous model of Rb in retinal organoids derived from genetically engineered human embryonic stem cells (hESCs) with a biallelic mutagenesis of the RB1 gene. These organoid Rbs exhibit properties highly consistent with Rb tumorigenesis, transcriptome, and genome-wide methylation. Single-cell sequencing analysis suggests that Rb originated from ARR3-positive maturing cone precursors during development, which was further validated by immunostaining. Notably, we found that the PI3K-Akt pathway was aberrantly deregulated and its activator spleen tyrosine kinase (SYK) was significantly up-regulated. In addition, SYK inhibitors led to remarkable cell apoptosis in cancerous organoids. In conclusion, we have established an organoid Rb model derived from genetically engineered hESCs in a dish that has enabled us to trace the cell of origin and to test novel candidate therapeutic agents for human Rb, shedding light on the development and therapeutics of other malignancies.
基金:
National Key R&D Program of China [2017YFA0105300]; Natural Science Foundation of China for Excellent Young Scholars [81522014]; Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81970838]; Zhejiang Provincial Natural Science Foundation of ChinaNatural Science Foundation of Zhejiang Province [LQ17H120005, LQ20C120001]
第一作者机构:[1]Wenzhou Med Univ, Eye Hosp, Lab Stem Cell & Retinal Regenerat, Wenzhou 325027, Peoples R China
共同第一作者:
通讯作者:
通讯机构:[3]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Inst Ophthalmol,Beijing Ophthalmol & Visu, Beijing 100730, Peoples R China[4]Wenzhou Med Univ, Eye Hosp, Inst Stem Cell Res, Wenzhou 325027, Peoples R China
推荐引用方式(GB/T 7714):
Liu Hui,Zhang Yan,Zhang You-You,et al.Human embryonic stem cell-derived organoid retinoblastoma reveals a cancerous origin[J].PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA.2020,117(52):33628-33638.doi:10.1073/pnas.2011780117.
APA:
Liu, Hui,Zhang, Yan,Zhang, You-You,Li, Yan-Ping,Hua, Zi-Qi...&Jin, Zi-Bing.(2020).Human embryonic stem cell-derived organoid retinoblastoma reveals a cancerous origin.PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,117,(52)
MLA:
Liu, Hui,et al."Human embryonic stem cell-derived organoid retinoblastoma reveals a cancerous origin".PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 117..52(2020):33628-33638