乳腺癌穿刺活检与切除标本基因检测

　　对于早期乳腺癌，术后辅助治疗决策可能部分取决于多基因定量逆转录聚合酶链反应检测结果，例如手术切除标本的21基因检测复发评分。不过，对于术前新辅助治疗患者等特殊情况，术前粗针活检标本可能作为替代。

　　2021年1月13日，自然施普林格旗下《乳腺癌研究与治疗》在线发表复旦大学附属肿瘤医院柏乾明、薛田、任敏、杨文涛、周晓燕等学者的研究报告，探讨了早期乳腺癌术前穿刺活检标本与手术切除标本的21基因检测结果一致性。

　　该单中心回顾研究对2020年5月1日～2020年7月3日复旦大学附属肿瘤医院连续50例乳腺癌患者的术前粗针穿刺活检和手术切除标本进行检测并计算复发评分。首先，通过免疫组织化学和逆转录聚合酶链反应分析，分析组织标本的ER、PR、HER2状态的一致性。随后，比较配对标本的ER、PR、HER2、Ki67染色免疫组织化学结果。最后，比较配对标本的ER、PR、HER2、Ki67、复发评分和单基因结果。

　　结果，手术切除标本与粗针穿刺活检标本相比，ER、PR、HER2免疫组织化学和逆转录聚合酶链反应的一致性分别为100%，80.0%、100%。

　　配对标本的ER、PR、HER2、Ki67免疫组织化学状态的一致性分别为100%，94.0%、52.0%、82.0%。

　　配对标本的复发评分结果相关性较强。根据传统临界值、TAILORx研究临界值、美国临床肿瘤学会指南，配对标本复发评分组分类的一致性分别为74%、72%、78%。

　　根据逆转录聚合酶链反应结果，配对标本的ER、PR、HER2、Ki67相关性中等至强。

　　因此，该单中心回顾研究表明，术前粗针穿刺活检与手术切除标本相比，ER、PR、HER2、Ki67基因表达、复发评分的相关性中等至强。21基因检测复发评分能在粗针穿刺活检标本可靠地进行。ER、PR、HER2状态免疫组织化学和逆转录聚合酶链反应分析的一致性显著。配对标本免疫组织化学结果表明，ER、PR、Ki67一致性较高，而HER2一致性较低。

Breast Cancer Res Treat. 2021 Jan 13. Online ahead of print.

Concordance of the 21-gene assay between core needle biopsy and resection specimens in early breast cancer patients.

Qi P, Yang Y, Bai QM, Xue T, Ren M, Yao QL, Yang WT, Zhou XY.

Fudan University Shanghai Cancer Center, Shanghai, China; Shanghai Medical College, Fudan University, Shanghai, China; Institute of Pathology, Fudan University, Shanghai, China.

BACKGROUND: Adjuvant therapy decisions may be partly based on the results of a multigene quantitative reverse transcription-polymerase chain reaction (RT-PCR)-based assay: the 21-gene recurrence score (RS) test of resection specimens. When necessary, core needle biopsy (CNB) may be considered as a surrogate. Here, we evaluated the concordance in gene expression according to results from RT-PCR-based RS testing between paired CNBs and resection specimens.

METHODS: CNBs and resection specimens from 50 breast cancer (BC) patients were tested to calculate RSs. First, we examined the concordance of the ER, PR and HER-2 status of tissue samples indicated by immunohistochemical (IHC) and RT-PCR analyses. Then, we compared the IHC findings of ER, PR, HER-2 and Ki-67 staining across paired samples. Ultimately, the RS and single-gene results for ER, PR, HER-2 and Ki-67 were explored between paired samples.

RESULTS: The concordance between IHC and RT-PCR was 100%, 80.0% and 100% for ER, PR and HER-2, respectively, in both resection specimens and CNBs. The concordance for IHC ER, PR, HER-2 and Ki-67 status was 100%, 94.0%, 52.0% and 82.0%, respectively, between paired samples. RS results from paired samples showed a strong correlation. The overall concordance in RS group classification between samples was 74%, 72% and 78% based on traditional cutoffs, TAILORx cutoffs and ASCO guidelines, respectively. ER, PR, HER-2 and Ki-67 were modestly- to- strongly correlated between paired samples according to the RT-PCR results.

CONCLUSION: A modest- to- strong correlation of ER, PR, HER-2 and Ki-67 gene expression and RS between CNBs and resection specimens was observed in the present study. The 21-gene RS test could be reliably performed on CNBs. ER, PR and HER-2 status showed remarkable concordance between the IHC and RT-PCR analyses. The concordance between paired samples was high for the IHC ER, PR and Ki-67 results and low for HER-2.

KEYWORDS: Breast cancer; Core needle biopsy; Genomic profiling; Predictive biomarkers; Resection specimen

PMID: 33439420

DOI: 10.1007/s10549-020-06075-6