Genomic analysis of aqueous humor and tumor tissue in retinoblastoma

doi:10.3877/cma.j.issn.2095-5782.2020.01.012

Abstract

Abstract:

Objective

Preliminary analysis of the consistency of genomic information in aqueous humor and tumor tissue from patients with Retinoblastoma.

Methods

The aqueous humor and tumor tissues of two cases of failed eye protection treatment were selected for this study. Detected by ultra low flux whole genome sequencing (ulf-wgs) and a Hidden Markov model (HMM) based on software-ichorCNA, the genomics DNA (gDNA) of tumor tissues, and cell-free DNA (cfDNA) of the aqueous humor and vitreous were detected. The tumor fraction (TF) and somatic chromosomal copy-number alterations (SCNA) were analyzed.

Results

We archived qualified genomic DNA (gDNA) of tumor samples and cell-free DNA (cfDNA) of aqueous humor samples in both cases. TF of 4 samples were more than 10%. For the aqueous humor of selected two patients, the most frequent copy gain genomic regions included 1q, 6p, and 13q and the most frequent copy loss genomic regions included 6q and 8p. For one patient, we observed the high consistency SCNA between vitreum and tumor, the CNA profiles demonstrated increased chromosomal alterations in chromosomes 1q, 6p, 13 and 18, and decreased chromosomal alterations in chromosomes 6q and 8p. For the other patient, we observed SCNA in aqueous humor, including gain of 1p, 6q, and 13q, and loss of 8p.

Conclusions

Aqueous humor biopsies and technology of ulf-wgs are expected to become the new standard for evaluating the efficacy and prognosis of retinoblastoma.

Key words: Retinoblastoma, Aqueous humor, Genome

Hua Jiang, Jiejun Xia, Junyang Zhao, Fairooz, Peiying Liu, Jing Zhang. Genomic analysis of aqueous humor and tumor tissue in retinoblastoma[J]. Chinese Journal of Interventional Radiology(Electronic Edition), 2020, 08(01): 57-61.

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References 13

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