Sono Reiri, Konecny Gottfried E, Zhang Liying
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States.
Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States.
Front Oncol. 2024 Dec 20;14:1514471. doi: 10.3389/fonc.2024.1514471. eCollection 2024.
fusion is one of the classes of emerging therapeutic targets of precision oncology and is observed in many solid tumor types. Our understanding of oncogenic mechanisms and therapy effects of molecular targets tends to reflect those occurring in overrepresented tumor types, posing a challenge in therapy planning of the same targets occurring in unusual tumor types. We present a case of a primary high-grade serous tubo-ovarian carcinoma with a novel fusion, an exceedingly rare combination of tumor type and fusion class, with an unusually short-lived response to futibatinib. We review the potential pathogenic mechanism of this fusion and address challenges in predicting targeted therapy efficacy using various assay types and trial designs in heterogeneous tumor types sharing a structural variant.
融合是精准肿瘤学新兴治疗靶点类别之一，在多种实体瘤类型中均有发现。我们对分子靶点致癌机制和治疗效果的理解往往反映了在常见肿瘤类型中发生的情况，这给罕见肿瘤类型中相同靶点的治疗规划带来了挑战。我们报告了一例原发性高级别浆液性输卵管卵巢癌，其具有一种新型融合，这是一种极其罕见的肿瘤类型与融合类别的组合，对futibatinib的反应异常短暂。我们回顾了这种融合的潜在致病机制，并探讨了在具有结构变异的异质性肿瘤类型中使用各种检测类型和试验设计预测靶向治疗疗效时所面临的挑战。
