Personalized Therapy based on Several Parameters of Comprehensive Tumour Profiling: a Challenge in NEBC

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Abstract

Primary neuroendocrine breast cancer (NEBC) is a rare entity accounting for <0.1% of all breast carcinomas and <1% of all neuroendocrine tumours. 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 large and small cell NEBC. After initial therapies analogue to those of breast cancer (BC) or neuroendocrine cancers (NEC) had failed, comprehensive tumour profiling was applied, leading to individualized treatment options for both patients. Due to targetable mutations and important co-alterations, the PIK3-mTOR pathway was highlighted from different aspects in both patients. The epicrisis of the two patients exemplifies how to manage the challenge of rare and difficult to treat cancers and how new diagnostic tools contribute to medical management.
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基于综合肿瘤分析的几个参数的个性化治疗:NEBC的一个挑战
原发性神经内分泌乳腺癌(NEBC)是一种罕见的肿瘤,占所有乳腺癌的0.1%以下,占所有神经内分泌肿瘤的1%以下。在大多数情况下,NEBC的治疗策略是经验性的,缺乏对NEBC队列的前瞻性试验数据。在此,我们提出两个病例报告诊断为间变性大细胞和小细胞NEBC。在类似于乳腺癌(BC)或神经内分泌癌(NEC)的初始治疗失败后,应用全面的肿瘤分析,为两名患者提供个性化的治疗方案。由于可靶向突变和重要的共改变,两例患者的PIK3-mTOR通路从不同的方面得到了突出。这两名患者的危机说明了如何应对罕见和难以治疗的癌症的挑战,以及新的诊断工具如何有助于医疗管理。
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