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Published on: September 20, 2016
Retinoblastoma: Molecular Evaluation of Tumor Samples, Aqueous Humor, and Peripheral Blood Using a Next-Generation
Thais Biude Mendes1, Indhira Dias Oliveira1, Francine Tesser Gamba1,2
1Genetics Laboratory, Pediatric Oncology Institute (IOP/GRAACC), Federal University of Sao Paulo, Sao Paulo 04023-062, SP, Brazil.
Liquid biopsy using aqueous humor and blood can detect genetic alterations in retinoblastoma, aiding diagnosis. This non-invasive approach shows promise for improving cancer treatment strategies.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Retinoblastoma is a genetic disease linked to the RB1 gene.
- Tumor accessibility challenges necessitate non-invasive diagnostic methods.
- Liquid biopsy offers a promising alternative for cancer diagnosis and prognosis.
Purpose of the Study:
- To investigate molecular alterations in retinoblastoma using liquid biopsy samples.
- To assess the utility of Next-Generation Sequencing (NGS) for retinoblastoma diagnosis and prognosis.
- To evaluate the feasibility of using aqueous humor and peripheral blood for molecular analysis.
Main Methods:
- Genomic analysis of 162 samples (tumor, aqueous humor, peripheral blood) from 76 retinoblastoma patients.
- Utilized the Oncomine Childhood Cancer Research Panel (OCCRA®) for Next-Generation Sequencing (NGS).
- Analyzed paired tumor, aqueous humor, and peripheral blood samples for genetic alterations.
Main Results:
- Detected 22 altered genes and 54 variants across all sample types.
- Identified RB1 gene alterations in 16 of 29 paired sample cases.
- Found concordant RB1 alterations in all three sample types in 3 patients and in tumor/aqueous humor in 12 patients.
Conclusions:
- The OCCRA panel successfully detected molecular alterations in RB1, MYCN, ABL2, and MDM4 genes.
- Aqueous humor, despite limitations in cfDNA concentration, is a viable alternative for analyzing inaccessible tumors.
- Liquid biopsy demonstrates significant potential for improving retinoblastoma diagnosis and treatment guidance.
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