Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study

Abramson, David H.; Mandelker, Diana; Brannon, A. Rose; Dunkel, Ira J.; Benayed, Ryma; Berger, Michael F.; Arcila, Maria E.; Ladanyi, Marc; Friedman, Danielle Novetsky; Jayakumaran, Gowtham; Diosdado, Monica; Robbins, Melissa; Haggag-Lindgren, Dianna; Shukla, Neerav; Walsh, Michael F.; Kothari, Prachi; Tsui, Dana; Francis, Jasmine H.

doi:10.1371/journal.pone.0271505

Cited by 5 publications

(4 citation statements)

References 23 publications

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“…The role of ccfDNA in personalized medicine is at the forefront of a rapidly evolving landscape, offering promising prospects for individualized treatment and enhanced patient care. However, this advancement must be navigated with careful consideration of the associated ethical, practical, and accessibility challenges [50]. This broadening of scope signifies a shift towards a more holistic application of ccfDNA in medicine, transcending traditional boundaries and offering a more comprehensive approach to healthcare [53].…”

Section: Ethical and Practical Considerationsmentioning

confidence: 99%

Exploring the Role of Circulating Cell-Free DNA in Disease Diagnosis and Therapy

Odah

2024

Preprint

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Recent advancements in molecular diagnostics have highlighted the potential of circulating cell-free DNA (ccfDNA) as a biomarker in various diseases. This study aims to explore the role of ccfDNA in the early diagnosis, prognosis, and therapeutic monitoring of diseases, with a focus on oncology. We conducted a comprehensive review and analysis of current literature, combined with experimental approaches involving advanced genomic sequencing and bioinformatics techniques. Our research systematically characterizes the molecular composition of ccfDNA, including its origins, size distribution, and methylation patterns, across different disease states. Furthermore, we investigate the dynamics of ccfDNA release and clearance in the bloodstream, elucidating mechanisms that could influence its diagnostic accuracy. In the context of cancer, we analyze the correlation between tumor-derived ccfDNA and disease progression, response to therapy, and overall survival. Our findings indicate that ccfDNA holds promise as a non-invasive biomarker for early disease detection, real-time monitoring of treatment efficacy, and potentially, predicting relapse. This study contributes to the growing field of liquid biopsies and opens new avenues for personalized medicine, emphasizing the need for standardized protocols in ccfDNA analysis to maximize its clinical utility. The implications of our findings extend beyond oncology, suggesting potential applications of ccfDNA in other pathological conditions.

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Section: Ethical and Practical Considerationsmentioning

confidence: 99%

Exploring the Role of Circulating Cell-Free DNA in Disease Diagnosis and Therapy

Odah

2024

Preprint

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“…Tumor-specific circulating tumor DNA (ctDNA) is commonly detected in the blood (plasma) of newly diagnosed children with retinoblastoma . Correlative studies in enucleated eyes have confirmed that the source of the ctDNA is the tumor in the eye .…”

Section: Introductionmentioning

confidence: 99%

“…umor-specific circulating tumor DNA (ctDNA) is commonly detected in the blood (plasma) of newly diagnosed children with retinoblastoma. [1][2][3] Correlative studies in enucleated eyes have confirmed that the source of the ctDNA is the tumor in the eye. 4 The half-life of this ctDNA is brief; during enucleation, 50% of the measurable ctDNA fraction ( variant allele frequency [VAF]) becomes undetectable in 10 minutes and 90% within 40 minutes of transecting the optic nerve.…”

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confidence: 99%

“…4 The half-life of this ctDNA is brief; during enucleation, 50% of the measurable ctDNA fraction ( variant allele frequency [VAF]) becomes undetectable in 10 minutes and 90% within 40 minutes of transecting the optic nerve. 2 Most patients at Memorial Sloan Kettering Cancer Center (MSKCC) are no longer enucleated, and they are treated with intra-arterial chemotherapy, which allows retention of the eye and usually retention of vision. 5,6 Plasma ctDNA level also becomes undetectable quickly after this form of therapy.…”

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confidence: 99%

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Circulating Tumor DNA Posttreatment Measurements and Clinical Correlates in Retinoblastoma

Abramson,

Robbins,

Gobin

et al. 2024

JAMA Ophthalmol

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ImportancePlasma measurements of RB1 circulating tumor DNA (ctDNA) after completion of treatment may be associated with the development of metastases in patients with retinoblastoma.ObjectiveTo 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 ParticipantsThis 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.ExposureMemorial 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 MeasuresPlasma ctDNA level before treatment, after completion of ocular treatment, and development or absence of metastases.ResultsA 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 RelevancePatients 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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Histiocytosis Advancements Parallel Ophthalmic Innovations: The LXXXI Edward Jackson Memorial Lecture

Francis

2025

American Journal of Ophthalmology

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Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study

Cited by 5 publications

References 23 publications

Exploring the Role of Circulating Cell-Free DNA in Disease Diagnosis and Therapy

Exploring the Role of Circulating Cell-Free DNA in Disease Diagnosis and Therapy

Circulating Tumor DNA Posttreatment Measurements and Clinical Correlates in Retinoblastoma

Histiocytosis Advancements Parallel Ophthalmic Innovations: The LXXXI Edward Jackson Memorial Lecture

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