Maly Marlies, Vanwalleghem Lieve, Van Den Eeckhaut Anja, De Wilde Vincent
Department of Gastroenterology and Hepatology, Ghent University Hospital, 9000 Ghent, Belgium.
Department of Gastroenterology and Hepatology, AZ Sint-Jan, 8000 Bruges, Belgium.
Mol Clin Oncol. 2024 Sep 30;21(6):88. doi: 10.3892/mco.2024.2786. eCollection 2024 Dec.
The diagnostic work-up of cancer of unknown primary (CUP) is a challenging task; in addition, only a little data on BRAF targeting in CUP are currently available. Traditionally, the identification of favourable and unfavourable CUP subsets directs the choice of treatment. The present article reports the case of a 50-year-old male patient presenting with a BRAF-mutated CUP, a rare and generally unfavourable subset. Based on imaging, immunohistochemistry and a high value of carbohydrate antigen 19-9, an upper gastrointestinal profile was initially presumed. After disease progression on treatment with a first-line platinum-based doublet chemotherapy, a significant response was documented after treatment with the BEACON combination. The present case report highlighted the paradigm shift in diagnosis and treatment of CUP from a histology-based approach to molecular profiling with the introduction of precision medicine.
未知原发灶癌症(CUP)的诊断性检查是一项具有挑战性的任务;此外,目前关于CUP中BRAF靶向治疗的可用数据很少。传统上,识别有利和不利的CUP亚组指导治疗选择。本文报告了一例50岁男性患者,其患有BRAF突变的CUP,这是一种罕见且通常预后不良的亚组。基于影像学、免疫组织化学和高碳水化合物抗原19-9值,最初推测为上消化道病变。在一线铂类双联化疗治疗后疾病进展,使用BEACON组合治疗后记录到显著反应。本病例报告强调了随着精准医学的引入,CUP的诊断和治疗从基于组织学的方法向分子谱分析的范式转变。