Dundee Cancer Centre, Clinical Research Centre, Ninewells Hospital and Medical School, Dundee, UK.
Cancer Biomark. 2012;12(6):231-9. doi: 10.3233/CBM-130314.
Prospective studies of biomarker status in primary and recurrent or metastatic breast cancer have confirmed the findings of historical retrospective studies which demonstrate that for biomarkers which influence routine clinical practice, Estrogen Receptor (ER), Progesterone Receptor (PR) and Human Epidermal growth factor Receptor type 2 (HER2), biopsy of recurrent or metastatic disease is essential not only to confirm the presence of malignancy but to guide targeted medical therapy. Historically, discordance rates for the expression of receptors between primary and metastatic tumors, though variable, may have led to suboptimal treatment for a significant proportion of patients. While changes in PR are most common, changes in ER (positive to negative or less frequently negative to positive) and the less common changes in HER2 (usually gain of HER2 amplification) influence subsequent therapy for 1 in 6 patients and may thus impact upon survival. Recognition of the potential for heterogeneity within the primary, between metastatic sites and over time requires further prospective study in breast cancer where the comparability of metastases from multiple sites and the need to biopsy successive recurrences have been less well documented. Recent prospective studies confirm the retrospective evidence that optimal patient care requires appropriate biopsy and pathological assessment of recurrent or metastatic breast cancer.
前瞻性研究原发性、复发性或转移性乳腺癌的生物标志物状态，证实了历史回顾性研究的发现，这些研究表明，对于影响常规临床实践的生物标志物，雌激素受体（ER）、孕激素受体（PR）和人类表皮生长因子受体 2（HER2），复发性或转移性疾病的活检不仅对于确认恶性肿瘤的存在至关重要，而且对于指导靶向药物治疗至关重要。从历史上看，原发性和转移性肿瘤之间受体表达的不一致率可能因患者而异，但这可能导致相当一部分患者的治疗效果不佳。虽然 PR 的变化最为常见，但 ER（从阳性变为阴性或较少见的从阴性变为阳性）和 HER2 （通常是 HER2 扩增的增加）的变化会影响 1/6 患者的后续治疗，因此可能会影响生存。认识到原发性肿瘤、转移部位之间以及随时间推移的异质性的潜力，需要在乳腺癌中进行进一步的前瞻性研究，在乳腺癌中，多个部位转移的可比性以及对连续复发进行活检的必要性记录较少。最近的前瞻性研究证实了回顾性证据，即最佳的患者护理需要对复发性或转移性乳腺癌进行适当的活检和病理评估。
