Jakubowski Debbie M, Bailey Helen, Abran John, Blacklock Andrea, Ciau Nancy, Mies Carolyn, Tan Vivian, Young Rebekah, Lau Anna, Baehner Frederick L
Exact Sciences Corporation, Redwood City, California.
J Surg Oncol. 2020 Sep;122(4):611-618. doi: 10.1002/jso.26050. Epub 2020 Jun 4.
Recent COVID-19 pandemic guidelines recommend genomic assessment of core biopsies to help guide treatment decisions in estrogen receptor (ER)-positive early-stage breast cancer. Herein we characterize biopsy and excisional breast cancer specimens submitted for 21-gene testing.
US samples submitted to Genomic Health for 21-gene testing (01/2004-04/2020) were assessed by pathologists and analyzed by a standardized quantitative reverse transcription-polymerase chain reaction. Predefined cutoffs were: ESR1 (positive ≥6.5), PGR (positive ≥5.5), and ERBB2 (negative <10.7). ER status by immunohistochemistry (IHC) and lymph node status were determined locally. Median and interquartile range were reported for continuous variables, and total and percent for categorical variables. Distributions were assessed overall, by age, and by nodal involvement.
Of 919 701 samples analyzed, 13% were biopsies and 87% were excisions. Initial assay success rates were 94.5% (biopsies) and 97.3% (excisions). ER IHC concordance with central ESR1 was 96.8% (biopsies) and 97.6% (excisions). Biopsy and excisional medians were: Recurrence Score results 16 (each); ESR1 10.2 (each); PGR 7.7 and 7.6; ERBB2 9.4 and 9.2, respectively.
Biopsy submissions for 21-gene testing are common and consistently generate results that are very similar to the experience with excisions. The 21-gene test can be performed reliably on core biopsies.
近期的新型冠状病毒肺炎大流行指南建议对核心活检组织进行基因组评估，以帮助指导雌激素受体（ER）阳性早期乳腺癌的治疗决策。在此，我们对提交进行21基因检测的活检和切除乳腺癌标本进行了特征分析。
将提交给基因组健康公司进行21基因检测（2004年1月至2020年4月）的美国样本由病理学家进行评估，并通过标准化定量逆转录聚合酶链反应进行分析。预定义的临界值为：ESR1（阳性≥6.5）、PGR（阳性≥5.5）和ERBB2（阴性<10.7）。通过免疫组织化学（IHC）确定的ER状态和淋巴结状态在当地进行测定。连续变量报告中位数和四分位间距，分类变量报告总数和百分比。总体、按年龄和按淋巴结受累情况评估分布。
在分析的919701个样本中，13%为活检组织，87%为切除组织。初始检测成功率分别为94.5%（活检组织）和97.3%（切除组织）。ER IHC与中心ESR1的一致性分别为96.8%（活检组织）和97.6%（切除组织）。活检组织和切除组织的中位数分别为：复发评分结果均为16；ESR1均为10.2；PGR分别为7.7和7.6；ERBB2分别为9.4和9.2。
提交进行21基因检测的活检组织很常见，并且始终产生与切除组织非常相似的结果。21基因检测可以在核心活检组织上可靠地进行。
