RB1 circulating-tumor DNA in the blood of Retinoblastoma patients increases in untreated patients.

IF 2.3 2区医学 Q2 OPHTHALMOLOGY

Retina-The Journal of Retinal and Vitreous Diseases Pub Date : 2024-08-01 DOI:10.1097/IAE.0000000000004224

Rebecca F Silverman, Jasmine H Francis, Melissa A Robbins, Ira J Dunkel, David H Abramson

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Abstract

Purpose: Circulating tumor DNA (ctDNA) in plasma has been identified in many cancers, including retinoblastoma at diagnosis. We have previously shown that with treatment (enucleation or ophthalmic artery chemosurgery (OAC)) all ctDNA disappears; and if there is persistent plasma ctDNA after treatment metastases develop. The purpose of this study was to determine how the ctDNA RB1 variant allele frequency (VAF) changes in patients with retinoblastoma who have delayed treatment.

Methods: Circulating tumor DNA RB1 was detected and VAF was measured at diagnosis and again prior to any intervention at some time later ranging from 2 to 28 days.

Results: Four patients with five ctDNA RB1 mutations were detected at diagnosis and VAF was increased on re-evaluation of the same RB1 mutations in ctDNA.

Conclusion: In this small cohort, every patient (4) and every RB1 mutation (5) plasma level VAF% increased when measured at two time periods before treatment was instituted suggesting that growing tumors demonstrate increasing plasma ctDNA.

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视网膜母细胞瘤患者血液中的 RB1 循环肿瘤 DNA 在未经治疗的患者中有所增加。

目的：血浆中的循环肿瘤 DNA（ctDNA）已在许多癌症中被发现，包括确诊时的视网膜母细胞瘤。我们以前的研究表明，随着治疗（去核或眼动脉化疗（OAC））的进行，所有的ctDNA都会消失；如果治疗后血浆中仍存在ctDNA，则会发生转移。本研究旨在确定延迟治疗的视网膜母细胞瘤患者的ctDNA RB1变异等位基因频率（VAF）如何变化：方法：检测循环肿瘤DNA RB1，在诊断时测量VAF，并在任何干预措施之前的2至28天再次测量VAF：结果：4名患者在诊断时检测到5个ctDNA RB1突变，再次评估ctDNA中相同的RB1突变时，VAF增加：在这一小型队列中，每一位患者（4 例）和每一种 RB1 突变（5 例）的血浆水平 VAF% 在开始治疗前的两个时间段测量时都有所增加，这表明生长中的肿瘤显示血浆 ctDNA 在增加。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Retina-The Journal of Retinal and Vitreous Diseases 医学-眼科学

CiteScore

5.70

自引率

9.10%

发文量

554

审稿时长

3-6 weeks

期刊介绍： RETINA® focuses exclusively on the growing specialty of vitreoretinal disorders. The Journal provides current information on diagnostic and therapeutic techniques. Its highly specialized and informative, peer-reviewed articles are easily applicable to clinical practice. In addition to regular reports from clinical and basic science investigators, RETINA® publishes special features including periodic review articles on pertinent topics, special articles dealing with surgical and other therapeutic techniques, and abstract cards. Issues are abundantly illustrated in vivid full color. Published 12 times per year, RETINA® is truly a “must have” publication for anyone connected to this field.