Background/Objectives: Next-generation-sequencing-based genomic profiling (GP) of advanced breast cancer (BC) has been increasingly integrated into clinical practice. The growing number of biomarker-based therapies in BC increasingly complicates treatment decisions. As a result, molecular tumor boards (MTBs) have become pivotal. However, real-world data on the utility of MTBs in advanced BC remain limited. This study evaluates the translation of molecular findings in BC patients into MTB recommendations and examines their implementation and outcomes in real-world clinical practice. Methods: This retrospective, single-center study included 103 BC patients who received GP between January 2018 and December 2023. Patients were discussed at the weekly multidisciplinary MTB of our institution. Data retrieved included patient characteristics, GP results, and MTB recommendations, which were consecutively matched with treatment outcomes, namely the proportion of patients receiving an MTB treatment recommendation, proportion of patients receiving molecularly matched targeted therapy (MTT), and best treatment response. Results: The MTB reviewed 94 patients and provided 155 recommendations to 68 patients (72.3%), including systemic anti-cancer treatment (n= 123), clinical study participation (n= 4), genetic counseling (n= 12), and additional molecular testing (n= 16) recommendations. Treatment recommendations were provided to 63 patients (67%), of whom 38 (60.3%) received MTT. Of the 35 patients eligible for response assessment, 16 (45.7%) demonstrated clinical benefit: three achieved a complete response, six a partial response, and ten a stable disease > 6 months. Conclusions: GP and MTBs expand biomarker-matched treatment options to BC patients beyond the standard of care. Around half of the patients who receive MTT experience a clinical benefit. The standardization of procedures, the development of multi-biomarker-based prediction, and the enhancement in MTT delivery to patients are key challenges, which should be addressed in future initiatives.
背景/目的：基于下一代测序的晚期乳腺癌基因组分析已日益融入临床实践。乳腺癌中基于生物标志物的疗法数量不断增长，使治疗决策日趋复杂。因此，分子肿瘤委员会的作用变得至关重要。然而，关于分子肿瘤委员会在晚期乳腺癌中实际应用效果的真实世界数据仍然有限。本研究评估了乳腺癌患者分子检测结果转化为分子肿瘤委员会建议的过程，并考察了这些建议在真实世界临床实践中的实施情况及疗效。方法：这项回顾性单中心研究纳入了2018年1月至2023年12月期间接受基因组分析的103例乳腺癌患者。所有病例均在我院每周举行的多学科分子肿瘤委员会上进行讨论。收集的数据包括患者特征、基因组分析结果及分子肿瘤委员会建议，并进一步与治疗结局进行关联分析，具体指标包括：获得分子肿瘤委员会治疗建议的患者比例、接受分子匹配靶向治疗的患者比例以及最佳治疗反应。结果：分子肿瘤委员会共讨论94例患者，向68例患者（72.3%）提出155条建议，包括全身抗癌治疗建议（123条）、临床研究参与建议（4条）、遗传咨询建议（12条）及补充分子检测建议（16条）。63例患者（67%）获得治疗建议，其中38例（60.3%）接受了分子匹配靶向治疗。在35例可进行疗效评估的患者中，16例（45.7%）获得临床获益：3例达到完全缓解，6例达到部分缓解，10例实现超过6个月的疾病稳定。结论：基因组分析与分子肿瘤委员会能为乳腺癌患者提供超越标准治疗的生物标志物匹配治疗方案。约半数接受分子匹配靶向治疗的患者可获得临床获益。未来工作的关键挑战在于：推进流程标准化、开发基于多生物标志物的疗效预测体系，并提升分子匹配靶向治疗的患者可及性。
肿瘤(癌症)患者之家