主动监测期间脱模性纤维瘤病患者体内的循环肿瘤 DNA

IF 3.4 2区 医学 Q2 ONCOLOGY Annals of Surgical Oncology Pub Date : 2024-12-01 Epub Date: 2024-09-07 DOI:10.1245/s10434-024-16147-2
Laura Bergamaschi, Marta Zorza, Francesca Rini, Federica Perrone, Licia Rivoltini, Alessandro Gronchi, Sandro Pasquali, Nadia Zaffaroni, Viviana Vallacchi, Chiara Colombo
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引用次数: 0

摘要

背景:散发性苔藓样纤维瘤病(DF)是一种罕见的局部侵袭性肿瘤,其特点是 CTNNB1 第 3 外显子发生突变(T41A、S45F 和 S45P)。标准治疗方法是积极监测(AS),但有 30% 的患者需要治疗。DF的临床病程难以预测,因此需要确定预后标志物来制定治疗策略。在这项前瞻性研究中,我们调查了通过数字液滴 PCR(ddPCR)在肿瘤活检组织中检测到的突变与在血浆中检测到的突变之间的一致性,以及循环肿瘤 DNA(ctDNA)丰度与临床结果之间的关联:共纳入56名患者和10名健康供体。DF活检组织的CTNNB1突变状态由Sanger测定,WT CTNNB1突变状态由NGS测定。在入组和 AS 期间的特定时间点,我们对匹配的血浆样本中的 cfDNA 数量和 ctDNA 进行了评估。T41A、S45F和S45P的检出率分别为68%、42%和100%。在所有 S45P 突变患者中都检测到了 S45P 变异。对9名患者(根据RECIST标准,4名患者病情恶化,5名患者病情进展为首发事件)进行的AS期间ctDNA纵向评估显示,9名受检患者中有6名患者(4/5病情恶化,2/4病情恶化)的事件与ctDNA水平变化一致:ctDNA分析结果表明,在活组织检查具有挑战性的特定临床情况下,ctDNA有可能作为诊断工具应用于临床。需要进行前瞻性临床试验,以评估ctDNA作为预测性生物标记物的潜在作用。
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Circulating Tumor DNA in Patients with Desmoid Fibromatosis during Active Surveillance.

Background: Sporadic desmoid fibromatosis (DF) is a rare locally aggressive tumor characterized by mutation in exon 3 of CTNNB1 (T41A, S45F, and S45P). Standard of care is active surveillance (AS), but 30% require treatment. DF clinical course is unpredictable and identification of prognostic markers is needed to tailor strategy. In this prospective study, we investigated the consistency between mutation detected in tumor biopsies with that detected in plasma by digital droplet PCR (ddPCR) and the association between circulating tumor DNA (ctDNA) abundancy with clinical outcome.

Patients and methods: A total of 56 patients and 10 healthy donors were included. CTNNB1 mutation status of DF biopsies was determined by Sanger and in case of WT CTNNB1 with NGS. In matched plasma samples at enrollment and during AS at specific timepoints, we evaluated cfDNA quantity and ctDNA.

Results: ctDNA levels were measured in 46 patients with CTNNB1 mutation. Detection rate for T41A, S45F and S45P was 68%, 42% and 100%, respectively. S45P variant has been detected in all patients with S45P mutation. Longitudinal assessment of ctDNA during AS in nine patients (four with regression and five with progression as first event according to RECIST) showed a concordance between the event and ctDNA level change in six out of nine patients tested (4/5 with progression and 2/4 with regression).

Conclusions: Results of ctDNA analysis support its potential clinical implementation as diagnostic tool in specific clinical scenarios where biopsy can be challenging. A prospective clinical trial needs to be performed to evaluate the potential role of ctDNA as predictive biomarker.

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来源期刊
CiteScore
5.90
自引率
10.80%
发文量
1698
审稿时长
2.8 months
期刊介绍: The Annals of Surgical Oncology is the official journal of The Society of Surgical Oncology and is published for the Society by Springer. The Annals publishes original and educational manuscripts about oncology for surgeons from all specialities in academic and community settings.
期刊最新文献
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