China Oncology ›› 2022, Vol. 32 ›› Issue (8): 688-697.doi: 10.19401/j.cnki.1007-3639.2022.08.003
• Specialists' Commentary • Previous Articles Next Articles
Received:
2022-07-01
Revised:
2022-07-20
Online:
2022-08-30
Published:
2022-09-19
Contact:
LIU Qiang
E-mail:zhangy583@mail2.sysu.edu.cn;victorlq@hotmail.com
CLC Number:
ZHANG Yu, LIU Qiang. Advances of liquid biopsy in precision treatment of breast cancer[J]. China Oncology, 2022, 32(8): 688-697.
Tab. 1
Key studies of liquid biopsy analyses in patients with breast cancer"
Study (year) | Inclusion criteria | Detection method | Findings |
---|---|---|---|
Studies on CTCs | |||
Trapp E, et al [ (2019) | Lymph node positive and high risk lymph node negative breast cancer (n=1 087) | CellSearch System | The presence of CTCs 2 years after chemotherapy was associated with decreased OS (HR=3.91, 95% CI: 2.04-7.52, P<0.001) and DFS (HR=2.31, 95% CI: 1.50-3.55, P<0.001) |
Sparano J, et al [ | Lymph node positive and high risk lymph node negative breast cancer (n=547) | CellSearch System | Positive CTC assay result was associated with a 13.1-fold higher risk of recurrence (HR=13.1, 95% CI: 4.7-36.3) |
Janni W J, et al [ | Nonmetastatic breast cancer (various subtypes) (n=3 173) | CellSearch System | The presence of CTCs at the time of primary diagnosis was an independent prognostic factor for DFS (HR=1.82, 95% CI: 1.47-2.26), DDFS (HR=1.89, 95% CI: 1.49-2.40), BCSS (HR=2.04, 95% CI: 1.52-2.75), and overall survival (HR=1.97, 95% CI: 1.51-2.59) |
Bidard, et al [ (2014) | Metastatic breast cancer (various subtypes) (n=1 944) | CellSearch System | CTC count improves the prognostication of metastatic breast cancer when added to full clinicopathological predictive models (PFS LR=38.4, 95% CI: 21.9-60.3, P<0.000 1; OS LR=64.9, 95% CI: 41.3-93.4, P<0.000 1) |
Studies on ctDNA | |||
Kim M H, et al [ | Stage Ⅱ-Ⅲ TNBC (n=465) | Low-pass whole genome sequencing (LP-WGS) | The baseline ctDNA CNA burden on LP-WGS before neoadjuvant chemotherapy robustly predicts recurrence risk in stage Ⅱ-Ⅲ TNBC patients. The ctDNAⅠ-score showed prognostic value independently from pCR status, suggesting ctDNAⅠ-score can serve as a useful clinical determinant for escalating or de-escalating (neo)adjuvant strategy in TNBC patients |
Zhou Q, et al [ (2022) | Early breast cancer who underwent NAC (various subtypes) (n=187) | Targeted NGS of 93 frequently mutated genes in breast cancer | ctDNA detection at metastasis was significantly associated with higher RCB (OR=0.062, 95% CI: 0.01-0.48, P=0.007 7). Of the 31 patients with detectable ctDNA at metastasis, 30 patients (96.8%) were non-responders (RCB Ⅱ, n=8; RCB Ⅲ, n=22) and only one patient responded to the treatment (RCBⅠ) |
Shaw J, et al [ (2022) | Primary breast cancer underwent surgery and adjuvant therapy (various subtypes) (n=188) | mPCR-NGS | Patients with a positive ctDNA test had poorer RFS (HR=47.5, 95% CI: 18.5-161.4, P<0.001) from surgery; OS was also significantly reduced for patients who were ctDNA positive (HR=84.15, 95% CI: 16.43-1 538.00, P <0.001) |
Magbanua M J M, et al [ | High-risk early breast cancer (various subtypes) (n=84) | Ultra-deep sequencing | Lack of ctDNA clearance was a significant predictor of poor response and metastatic recurrence (non-pCR OR=4.33, P=0.012), while clearance was associated with improved survival even in patients who did not achieve pCR |
Li S, et al [ (2020) | Early breast cancer who underwent NAC (various subtypes) (n=52) | NGS of 1 021 cancer- related genes | ctDNA tracking during NAC outperformed imaging in predicting the overall response to NAC; Positive baseline ctDNA was significantly associated with worse DFS (P=0.011) and OS (P=0.004) in patients with early breast cancer, especially in estrogen receptor-negative patients |
Garcia-Murillas I, et al [ | Early-stage breast cancer (various subtypes) (n=101) | dPCR | Detection of ctDNA during follow-up was associated with a high risk of future relapse of early-stage breast cancer (HR=25.2, 95% CI: 6.7-95.6, P<0.001) |
Allouchery V, et al [ | Early breast cancer patients who completed at least 2 years of AI adjuvant treatment and experienced a documented relapse after the end of their treatment (various subtypes) (n=42) | ddPCR | No circulating ESR1 mutation was detectable at the end of AI adjuvant therapy. At first relapse, 5.3% of the patients (2 of 38) had a detectable circulating ESR1 mutation. At time of progression on first-line metastatic treatment, 33% of the patients (7 of 21) under AI had a detectable circulating ESR1 mutation compared with none of the patients under chemotherapy (0 of 10) |
Stover D G, et al [ | Metastatic TNBC (n=164) | Low-coverage genome-wide sequencing | Evaluation of cfDNA tumor fraction was feasible for nearly all patients, and tumor fraction≥10% was associated with significantly worse survival (HR=2.14, 95% CI: 1.4 to 3.8, P<0.001) |
Dawson S J, et al [ | Metastatic breast cancer who were receiving systemic therapy (various subtypes) (n=30) | ddPCR, tagged-amplicon deep sequencing, ADVIA Centaur immunoassay, CellSearch | ctDNA was successfully detected in 29 of the 30 women studied (97%); CA15-3 and CTCs were detected in 21 of 27 (78%) and 26 of 30 women (87%), respectively. ctDNA levels showed a greater correlation with changes in tumor burden than did CA15-3 or CTCs. ctDNA provided the earliest measure of treatment response in 10 of 19 women (53%), with an average lead time of 5 months before imaging |
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