单侧视网膜母细胞瘤患者血液中突变型 RB1 循环肿瘤 DNA：眼摘术后会发生什么：一项初步研究。
Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study.
机构信息
Department of Surgery, Ophthalmic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.
Department of Ophthalmology, Weill Cornell Medical Center, New York, New York, United States of America.
出版信息
PLoS One. 2023 Feb 3;18(2):e0271505. doi: 10.1371/journal.pone.0271505. eCollection 2023.
Cell free DNA (cfDNA) and circulating tumor cell free DNA (ctDNA) from blood (plasma) are increasingly being used in oncology for diagnosis, monitoring response, identifying cancer causing mutations and detecting recurrences. Circulating tumor RB1 DNA (ctDNA) is found in the blood (plasma) of retinoblastoma patients at diagnosis before instituting treatment (naïve). We investigated ctDNA in naïve unilateral patients before enucleation and during enucleation (6 patients/ 8 mutations with specimens collected 5-40 minutes from severing the optic nerve) In our cohort, following transection the optic nerve, ctDNA RB1 VAF was measurably lower than pre-enucleation levels within five minutes, 50% less within 15 minutes and 90% less by 40 minutes.
游离 DNA (cfDNA) 和血液 (血浆) 中的循环肿瘤细胞游离 DNA (ctDNA) 越来越多地用于肿瘤学的诊断、监测反应、识别致癌突变和检测复发。视网膜母细胞瘤患者在开始治疗 (naive) 前的诊断时，血液 (血浆) 中存在循环肿瘤 RB1 DNA (ctDNA)。我们在眼球摘除术前和眼球摘除术中 (6 名患者/8 个突变，从切断视神经开始收集 5-40 分钟的标本) 对 naïve 单侧患者的 ctDNA 进行了研究。在我们的队列中，视神经切断后，ctDNA RB1 VAF 在 5 分钟内明显低于眼球摘除术前水平，15 分钟内降低 50%，40 分钟内降低 90%。
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