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Single-cell sequencing in primary intraocular tumors: understanding heterogeneity, the microenvironment, and drug
Lin-Feng He1, Pei Mou1, Chun-Hui Yang1
1Department of Ophthalmology, Changzheng Hospital of Naval Medical University, Shanghai, China.
Abstract:
Retinoblastoma (RB) and uveal melanoma (UM) are the most common primary intraocular tumors in children and adults, respectively. Despite continued increases in the likelihood of salvaging the eyeball due to advancements in local tumor control, prognosis remains poor once metastasis has occurred. Traditional sequencing technology obtains averaged information from pooled clusters of diverse cells. In contrast, single-cell sequencing (SCS) allows for investigations of tumor biology at the resolution of the individual cell, providing insights into tumor heterogeneity, microenvironmental properties, and cellular genomic mutations. SCS is a powerful tool that can help identify new biomarkers for diagnosis and targeted therapy, which may in turn greatly improve tumor management. In this review, we focus on the application of SCS for evaluating heterogeneity, microenvironmental characteristics, and drug resistance in patients with RB and UM.
Insights
Single-cell sequencing (SCS) reveals tumor heterogeneity in retinoblastoma (RB) and uveal melanoma (UM). This approach aids in identifying biomarkers and drug resistance, potentially improving patient prognosis for these intraocular tumors.
Area of Science:
- Ophthalmology
- Oncology
- Genomics
Background:
- Retinoblastoma (RB) and uveal melanoma (UM) are primary intraocular tumors with poor prognosis upon metastasis.
- Current treatments face limitations due to tumor heterogeneity and lack of targeted therapies.
Purpose of the Study:
- To review the application of single-cell sequencing (SCS) in understanding RB and UM.
- To highlight SCS's role in evaluating tumor heterogeneity, microenvironment, and drug resistance.
Main Methods:
- Focus on single-cell sequencing (SCS) as a technology for high-resolution biological investigation.
- Review of studies applying SCS to retinoblastoma and uveal melanoma.
Main Results:
- SCS provides insights into cellular genomic mutations and tumor heterogeneity.
- SCS can characterize the tumor microenvironment and identify mechanisms of drug resistance.
Conclusions:
- SCS is a powerful tool for uncovering novel biomarkers for diagnosis and targeted therapy in RB and UM.
- Advancements in SCS can significantly improve the management and outcomes for patients with these intraocular tumors.

