Schaffrin-Nabe Dörthe, Schuster Stefan, Tannapfel Andrea, Voigtmann Rudolf
Praxis für Hämatologie und Onkologie, Bochum, Germany.
Datar Cancer Genetics Europe GmbH, Eckersdorf, Germany.
Front Med (Lausanne). 2022 Jun 3;9:841441. doi: 10.3389/fmed.2022.841441. eCollection 2022.
Neuroendocrine breast cancer (NEBC) is a rare entity accounting for <0.1% of all breast carcinomas and <0.1% of all neuroendocrine carcinomas. In most cases treatment strategies in NEBC are empirical in absence of prospective trial data on NEBC cohorts. Herein, we present two case reports diagnosed with anaplastic and small cell NEBC. After initial therapies failed, comprehensive tumor profiling was applied, leading to individualized treatment options for both patients. In both patients, targetable alterations of the PI3K/AKT/mTOR pathway were found, including a PIK3CA mutation itself and an STK11 mutation that negatively regulates the mTOR complex. The epicrisis of the two patients exemplifies how to manage rare and difficult to treat cancers and how new diagnostic tools contribute to medical management.
神经内分泌乳腺癌（NEBC）是一种罕见的疾病，占所有乳腺癌的比例不到0.1%，占所有神经内分泌癌的比例也不到0.1%。在大多数情况下，由于缺乏关于NEBC队列的前瞻性试验数据，NEBC的治疗策略是经验性的。在此，我们报告两例诊断为间变性和小细胞NEBC的病例。初始治疗失败后，进行了全面的肿瘤分析，为两名患者都带来了个体化的治疗方案。在两名患者中，均发现了PI3K/AKT/mTOR通路的可靶向改变，包括PIK3CA基因本身的突变以及对mTOR复合物起负调节作用的STK11突变。这两名患者的病例总结例证了如何管理罕见且难治的癌症，以及新的诊断工具如何有助于医疗管理。
