Wong Kasen, Kameoka Alyssa, Fukui Jami Aya
John A. Burns School of Medicine, University of Hawaii, 651 Ilalo Street, Honolulu, HI 96813, USA.
John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.
Ther Adv Med Oncol. 2025 Jul 8;17:17588359251351121. doi: 10.1177/17588359251351121. eCollection 2025.
Despite initial treatment, breast cancer recurrence affects approximately 30% of patients. Currently, there exists no standardized approach to detect recurrence before clinical or radiologic signs manifest. Circulating tumor DNA (ctDNA) is a minimally invasive blood test that offers potential to monitor molecular disease and individualize care. This study explores the utility of ctDNA in recurrence monitoring and clinical decision-making for high-risk breast cancer cases within a community setting. Seventy-two patients with high-risk breast cancer features-defined as stage III disease, triple-negative or HR-/HER2+ following neoadjuvant treatment, metastatic breast cancer without evidence of disease, bilateral breast cancer history, high-risk genetics (BRCA1/BRCA2 mutations), <40 years old at diagnosis, or history of breast cancer recurrence-were offered tumor-informed ctDNA assays at 3- to 6-month intervals. Analysis was conducted on 67 cases with a mean diagnostic age of 52.69 at diagnosis. The cohort was ethnically diverse, including White ( = 21, 31.82%), Japanese ( = 15, 22.73%), Native Hawaiian ( = 11, 16.67%), and Filipino ( = 7, 10.61%) patients. Seven (10.45%) tests were positive: six predicted recurrence despite four with initially negative radiological findings, and one prompted treatment resumption following prior non-adherence. However, one negative result was false and later showed a contralateral breast recurrence, and another negative test coincided with a new primary cholangiocarcinoma. In two cases, ctDNA negativity was utilized to monitor treatment response in metastatic disease and inform therapeutic adjustments. In real-world settings, ctDNA served as a valuable tool for earlier recurrence prediction, expediting radiological confirmation, and influencing treatment. Nevertheless, false results carry the risk of hindering effective care and inducing considerable patient anxiety. Future large-scale studies are warranted in high-risk breast cancer populations to evaluate ctDNA's impact on patient survival outcomes, treatment monitoring, and patients' emotional experiences.
尽管进行了初始治疗，但仍有大约30%的患者会出现乳腺癌复发。目前，在临床或放射学症状出现之前，尚无标准化的方法来检测复发情况。循环肿瘤DNA（ctDNA）是一种微创血液检测，具有监测分子疾病和实现个体化治疗的潜力。本研究探讨了ctDNA在社区环境中高危乳腺癌病例复发监测和临床决策中的应用。72例具有高危乳腺癌特征的患者——定义为III期疾病、新辅助治疗后三阴性或HR-/HER2+、无疾病证据的转移性乳腺癌、双侧乳腺癌病史、高危遗传学（BRCA1/BRCA2突变）、诊断时年龄<40岁或有乳腺癌复发史——每隔3至6个月接受一次肿瘤知情ctDNA检测。对67例病例进行了分析，诊断时的平均年龄为52.69岁。该队列种族多样，包括白人（n = 21，31.82%）、日本人（n = 15，22.73%）、夏威夷原住民（n = 11，16.67%）和菲律宾人（n = 7，10.61%）患者。7次（10.45%）检测呈阳性：6次预测了复发，尽管其中4次最初的放射学检查结果为阴性，1次促使在先前不依从后恢复治疗。然而，1次阴性结果为假阳性，后来显示对侧乳房复发，另1次阴性检测与新发原发性胆管癌同时出现。在2例病例中，ctDNA阴性被用于监测转移性疾病的治疗反应并指导治疗调整。在现实环境中，ctDNA是早期复发预测、加快放射学确认和影响治疗的有价值工具。然而，假结果有阻碍有效治疗并引起患者极大焦虑的风险。未来有必要在高危乳腺癌人群中开展大规模研究，以评估ctDNA对患者生存结局、治疗监测和患者情感体验的影响。
