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. 2024 Mar 1;142(3):257-261.
doi: 10.1001/jamaophthalmol.2023.6516.

Circulating Tumor DNA Posttreatment Measurements and Clinical Correlates in Retinoblastoma

David H Abramson  1 , Melissa A Robbins  1 , Y Pierre Gobin  2 , Ira J Dunkel  3 , Jasmine H Francis  1
Affiliations

Circulating Tumor DNA Posttreatment Measurements and Clinical Correlates in Retinoblastoma

David H Abramson et al. JAMA Ophthalmol. .

Abstract

Importance: Plasma measurements of RB1 circulating tumor DNA (ctDNA) after completion of treatment may be associated with the development of metastases in patients with retinoblastoma.

Objective: To determine if the absence of previously detectable plasma ctDNA is associated with metastasis-free survival in patients with a minimum of 1 year follow-up after treatment of retinoblastoma.

Design, setting, and participants: This cohort study was conducted from June 2019 to September 2023. Patients with retinoblastoma who had measurable ctDNA levels at diagnosis and had repeated ctDNA measurements after ocular treatment (enucleation or intra-arterial chemotherapy) with a minimum of 1 year of follow-up (mean [SD], 28.2 [10.3] months) were included in the study. Patients were recruited from a single-center, tertiary cancer hospital.

Exposure: Memorial Sloan Kettering's New York State-approved gene test, which interrogates 129 known cancer genes (called ACCESS), was performed on plasma samples before and after ocular treatments. All exons of the RB1 gene are included in the test and listed as ctDNA in this article.

Main outcomes and measures: Plasma ctDNA level before treatment, after completion of ocular treatment, and development or absence of metastases.

Results: A total of 24 patients (mean [SD] age, 20.7 [17.1] months; 15 female [62.5%]) were included in the study. None of the 23 patients who had a measurable ctDNA level and then no detectable ctDNA level after completion of ocular treatment developed metastases with a minimum of 1 year of follow-up. One patient had persistent measurable ctDNA after initial treatment and developed metastases.

Conclusion and relevance: Patients with retinoblastoma who had a measurable ctDNA level at diagnosis did not develop metastases if the plasma ctDNA level became unrecordable after ocular treatment; 1 patient who had persistent measurable ctDNA after treatment did develop metastasis.

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Conflict of interest statement

Conflict of Interest Disclosures: Dr Dunkel reported consultant fees from AstraZeneca, IO Biotech, Ipsen, Bristol Myers Squibb, Day One, GSK, and Pyramid outside the submitted work. No other disclosures were reported.

Figures

Figure.
Figure.. Presentation of Patient With Ocular, Orbital, and Optic Nerve Invasion From Untreated Retinoblastoma
See this image and copyright information in PMC

References

    1. Abramson DH, Mandelker D, Francis JH, et al. . Retrospective evaluation of somatic alterations in cell-Free DNA from blood in retinoblastoma. Ophthalmol Sci. 2021;1(1):100015. doi:10.1016/j.xops.2021.100015 - DOI - PMC - PubMed
    1. Abramson DH, Mandelker DL, Brannon AR, et al. . Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: a pilot study. PLoS One. 2023;18(2):e0271505. doi:10.1371/journal.pone.0271505 - DOI - PMC - PubMed
    1. Jiménez I, Frouin É, Chicard M, et al. . Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis. Eur J Cancer. 2021;154:277-287. doi:10.1016/j.ejca.2021.05.039 - DOI - PubMed
    1. Abramson DH. Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture. Ophthalmic Genet. 2023;44(4):321-326. doi:10.1080/13816810.2023.2189948 - DOI - PMC - PubMed
    1. Carnevale JA, Goldberg J, Kocharian G, et al. . Intra-arterial chemotherapy for retinoblastoma. J Neurointerv Surg. 2023;15(3):303-304. doi:10.1136/neurintsurg-2022-018957 - DOI - PubMed

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