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通过Oncotype DX乳腺癌复发评分®评估转移性乳腺癌:一项小型队列研究的见解

Metastatic breast cancer through the Oncotype DX Breast Recurrence Score®: insights from a small cohort study.

作者信息

Gemmill Julie Anne L, Thompson Patricia, Batiste Rebecca, Vacchi-Suzzi Caterina, Preece Christina, Cohen Jules, Baer Lea, Mies Carolyn, Turner Michelle, Russell Christy A, Stopeck Alison

机构信息

Division of Hematology/Oncology, Department of Internal Medicine, Stony Brook University Medical Center, Stony Brook, NY, USA.

Department of Physiology, University of Arizona, Tucson, AZ, USA.

出版信息

Breast Cancer Res Treat. 2025 Jul;212(2):407-413. doi: 10.1007/s10549-025-07736-0. Epub 2025 May 28.

Abstract

PURPOSE

To evaluate the feasibility of obtaining a 21-gene Oncotype DX Breast Recurrence Score® (RS) result from metastatic biopsies in newly diagnosed hormone receptor positive, HER2- metastatic breast cancer patients and correlate RS results with matched primary samples.

METHODS

Retrospective analysis of metastatic biopsies from HR+, HER2- breast cancer patients. Slides were sent to Genomic Health, Inc. for RNA isolation and RS determination. Success rates were evaluated across metastatic sites, and RS results were compared between matched primary and metastatic samples.

RESULTS

RS result was obtained in 46% of metastatic biopsies (bone: 18; liver: 5; lung: 1; ovary: 1; skin: 1). Failures were primarily due to insufficient (18) or poor-quality RNA (8). Mean RS for metastatic sites was 33 (range 1-66). None gained HER2 expression by RT-PCR. In 19 paired samples, mean RS was 20 (range 7-35) for primary and 35 (range 1-66) for metastatic sites, showing no predictive correlation. Estrogen receptor (ER) was conserved in 90%, while progesterone receptor (PR) was lost in 37%. In six de novo cases, metastatic RS result was consistently higher than primary RS (mean 36 vs. 24). ER positivity and HER2-negativity showed 100% concordance; PR expression had 67% concordance.

CONCLUSION

RS generation from metastatic biopsy samples was feasible in 46% of cases. Results revealed higher RS in metastatic disease, frequent PR loss, and poor correlation with primary tumors. Adequate tissue sampling is essential for improving RNA quality and test success. Further research into RS result relevance in metastatic treatment decisions is warranted.

摘要

目的

评估在新诊断的激素受体阳性、HER2阴性转移性乳腺癌患者中,通过转移灶活检获得21基因Oncotype DX乳腺癌复发评分(RS)结果的可行性,并将RS结果与匹配的原发样本进行关联分析。

方法

对HR +、HER2阴性乳腺癌患者的转移灶活检进行回顾性分析。将切片送至Genomic Health公司进行RNA提取和RS测定。评估不同转移部位的成功率,并比较匹配的原发样本和转移样本的RS结果。

结果

46%的转移灶活检获得了RS结果(骨:18例;肝:5例;肺:1例;卵巢:1例;皮肤:1例)。失败主要是由于RNA不足(18例)或质量差(8例)。转移部位的平均RS为33(范围1 - 66)。通过逆转录聚合酶链反应未发现HER2表达增加。在19对配对样本中,原发部位的平均RS为20(范围7 - 35),转移部位为35(范围1 - 66),未显示出预测相关性。雌激素受体(ER)在90%的样本中保持不变,而孕激素受体(PR)在37%的样本中丢失。在6例初诊病例中,转移灶的RS结果始终高于原发灶(平均36对24)。ER阳性和HER2阴性的一致性为100%;PR表达的一致性为67%。

结论

46%的病例中通过转移灶活检样本生成RS是可行的。结果显示转移性疾病中RS较高,PR频繁丢失,且与原发肿瘤的相关性较差。足够的组织采样对于提高RNA质量和检测成功率至关重要。有必要进一步研究RS结果在转移性治疗决策中的相关性。

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