肿瘤基因检测可能有助指导乳腺癌治疗决策

前情提要

• 70-基因检测有助早期乳腺癌患者精准治疗以避免化疗

　　《新英格兰医学杂志》最近发表的一项随机临床研究发现，根据70-基因特征检测（MammaPrint）可指导治疗决策，在近半数临床复发风险高的早期乳腺癌妇女可能不需要化疗即可获得有利生存结局。研究结果表明，肿瘤生物学特征与肿瘤负荷对结局一样重要。

乳腺癌的肿瘤基因图谱可以帮助确定是否需要化疗

　　基因组检测可用于将肿瘤分为不同的预后组。6693例患有早期乳腺癌的研究参与者，根据肿瘤基因表达谱和利用诸如激素受体状态、年龄、淋巴结受累、肿瘤分级和大小等因素评估得出的临床风险进行化疗。确定具有不同基因组和临床风险特征的2142例患者被随机分配接受或不接受化疗。

　　到第5年，根据临床和基因组方法确定的高风险患者（均接受化疗）无远处转移生存率最低（90.6%）。那些通过两种方法分类为低风险的患者（均未接受化疗）生存率最高（97.6%）。

　　对癌症复发临床风险高和基因组风险低的女性进行化疗，5年无远处转移生存率为94.7%，比具有相同特征的化疗女性低1.5%。根据这些结果，作者得出结论，约46%的高临床风险乳腺癌女性可能不需要化疗，70-基因表达检测可以帮助做出治疗决策。

JAMA. 2016 Oct 25;316(16):1637.

Tumor Gene Testing May Help Guide Breast Cancer Treatment Decisions.

Slomski A.

Based on the use of a 70-gene signature test (MammaPrint) to guide treatment decisions, a recent randomized clinical trial published in the New England Journal of Medicine found nearly half of women with early-stage breast cancer who are at high clinical risk of recurrence might not require chemotherapy to achieve favorable survival outcomes. The findings suggest that the biologic characteristics of a tumor are as important to outcomes as tumor burden.

Genetic profiling of breast cancer tumors could help determine whether chemotherapy is required.

The genomic test was used to classify tumors into prognosis groups. The 6693 study participants with early-stage breast cancer were assigned chemotherapy based on their tumor gene-expression profile and clinical risk, which was assessed using factors such as hormone-receptor status, age, nodal involvement, and tumor grade and size. The 2142 patients identified to have discordant genomic and clinical risk profiles were randomly assigned to receive or not receive chemotherapy.

At 5 years, patients who were at high risk according to both clinical and genomic methods—all of whom received chemotherapy—had the lowest rate of survival without distant metastasis (90.6%). Those who were classified low risk by both methods—none of whom received chemotherapy—had the highest survival rate (97.6%).

For women at high clinical risk and low genomic risk for cancer recurrence, forgoing chemotherapy resulted in a 5-year rate of survival without distant metastasis of 94.7%—1.5% lower than women with the same profile who had chemotherapy. Given these findings, the authors conclude that about 46% of women with breast cancer at high clinical risk may not require chemotherapy, and that the 70-gene expression test can help to make treatment decisions.

PMID: 27784093

DOI: 10.1001/jama.2016.14764