激素受体阳性人表皮生长因子受体2阴性早期乳腺癌术后辅助治疗多基因检测应用专家共识

Chinese expert consensus on multigene testing for postoperatively adjuvant treatment of hormone receptor-positive,HER2-negative early breast cancer

乳腺癌是女性最常见的恶性肿瘤,其中早期(Ⅰ~Ⅱ期)乳腺癌占比为73.1%。乳腺癌术后辅助治疗决策制定的主要依据为患者的临床病理特征,但其对于治疗疗效及预后的判断存在一定不足。多基因检测通过检测特定基因的表达水平,对不同患者的预后进行评估并预测疗效,从而指导乳腺癌辅助化疗、放疗及内分泌治疗的决策。共识专家组根据多基因检测工具的特点、验证结果及工具可及性,并结合临床实践,针对激素受体阳性人表皮生长因子受体2阴性早期乳腺癌,将Oncotype Dx^(®)(21个基因)、MammaPrint^(®)(70个基因)、RecurIndex^(®)(28个基因)以及Breast Cancer Index^(®)(7个基因)的结果判读及临床应用进行说明,并对各工具的开发和验证过程进行简要介绍。共识有助于指导和规范多基因检测工具的临床运用,进一步提高早期乳腺癌精准化治疗的水平。

Breast cancer is the most common malignant tumor in women,of which early-stage(stagesⅠ-Ⅱ)breast cancer(EBC)accounts for 73.1%.The strategy of postoperative adjuvant treatment relies mainly on the clinicopathologic characteristics of patients,but there are certain deficiencies in the assessment of treatment benefits and disease prognosis.Multigene testing tools can evaluate the prognosis and predict therapeutic effects of breast cancer patients to guide the clinical decision-making on whether to use adjuvant chemotherapy,radiotherapy,and endocrine therapy by detecting the expression levels of specific genes.The consensus-writing expert group,based on the characteristics,validation results,and accessibility of the multigene testing tools and combined with clinical practice,described the result interpretation and clinical application of OncotypeDx^(®)(21-gene),MammaPrint^(®)(70-gene),RecurIndex^(®)(28-gene),and BreastCancerIndex^(®)(BCI,7-gene)for hormone receptor-positive and human epidermal growth factor receptor 2-negative EBC.The development and validation process of each tool was also briefly introduced.It is expected that the consensus will help to guide and standardize the clinical application of multigene testing tools and further improve the level of precise treatment for EBC.