Alkassis Samer, Suresh Yashila, Lipsyc-Sharf Marla, Zhang Shiliang, Gianni Caterina, Medford Arielle, Bardia Aditya, Ashouri Shahryar, Kapoor Nimmi
University of California Los Angeles, 10833 Le Conte Ave, Los Angeles, CA, 90095, USA.
Cornell University, New York, NY, USA.
Breast Cancer Res Treat. 2025 Jul 21. doi: 10.1007/s10549-025-07773-9.
Triple-negative breast cancer (TNBC) comprises 10-15% of all breast cancers and is associated with high recurrence rates and limited treatment options. No guideline-recommended blood-based surveillance tests currently exist for early recurrence detection. Circulating tumor DNA (ctDNA) has emerged as a promising biomarker for molecular residual disease (MRD) assessment and recurrence prediction, though its role in detecting local recurrence remains unclear. We present the case of a 53-year-old postmenopausal woman with early stage TNBC who underwent neoadjuvant chemotherapy, bilateral mastectomy with axillary lymph node dissection, and adjuvant treatment. One month after completion of therapy, ctDNA monitoring using the Signatera MRD assay detected was positive at 0.07 mean tumor molecules per milliliter (MTM/mL) despite no radiographic evidence of disease. Serial ctDNA testing at 2, 3, and 6 months remained positive, with increasing MTM/mL values. Seven months after initial ctDNA detection, a breast MRI was done due to palpation of a lesion at the surgical site near the nipple, identifying multifocal masses within the reconstructed right breast, and surgical resection confirmed TNBC recurrence. Following post-mastectomy radiation, serial ctDNA testing was negative, and the patient remained radiographically and molecularly disease-free at 20 months following the resection of the recurrent disease. This case highlights the potential of ctDNA testing for MRD detection in the adjuvant setting and identifying local recurrence. If systemic imaging fails to detect metastases, dedicated breast imaging remains crucial, even after bilateral mastectomy. Early ctDNA testing may refine surveillance and treatment decisions. Prospective trials are needed to validate its role in improving breast cancer outcomes.
三阴性乳腺癌（TNBC）占所有乳腺癌的10%-15%，与高复发率和有限的治疗选择相关。目前尚无指南推荐的基于血液的监测检测方法用于早期复发检测。循环肿瘤DNA（ctDNA）已成为一种有前景的生物标志物，用于分子残留疾病（MRD）评估和复发预测，但其在检测局部复发中的作用仍不清楚。我们报告了一例53岁绝经后早期TNBC女性患者的病例，该患者接受了新辅助化疗、双侧乳房切除术加腋窝淋巴结清扫术以及辅助治疗。治疗完成后1个月，使用Signatera MRD检测法进行的ctDNA监测显示为阳性，平均肿瘤分子数为每毫升0.07个（MTM/mL），尽管没有疾病的影像学证据。在2、3和6个月进行的系列ctDNA检测仍为阳性，MTM/mL值不断增加。在首次检测到ctDNA后7个月，由于在乳头附近的手术部位触及一个肿块，进行了乳腺MRI检查，发现右乳房重建区内有多灶性肿块，手术切除证实为TNBC复发。乳房切除术后放疗后，系列ctDNA检测为阴性，在复发性疾病切除术后20个月，患者在影像学和分子水平上均无疾病。该病例突出了ctDNA检测在辅助治疗中检测MRD和识别局部复发的潜力。如果全身成像未能检测到转移，即使在双侧乳房切除术后，专门的乳腺成像仍然至关重要。早期ctDNA检测可能会优化监测和治疗决策。需要进行前瞻性试验来验证其在改善乳腺癌预后方面的作用。
