Haebe Sarah, Schuebbe Gesa, Jurmeister Philipp, von Bergwelt-Baildon Michael, Westphalen C Benedikt, Lauer Ulrich M, Kunz Wolfgang G, Subklewe Marion, Weigert Oliver
Department of Medicine III, LMU University Hospital, Munich, Germany.
Department of Pathology, LMU University Hospital, Munich, Germany.
NPJ Precis Oncol. 2025 Jan 25;9(1):26. doi: 10.1038/s41698-024-00768-7.
Rare cancers present significant challenges in diagnosis, treatment, and research, accounting for up to 25% of global cancer cases. Due to their rarity and atypical presentations, they are often misdiagnosed, resulting in late-stage detection and poor outcomes. Here, we describe a patient case with advanced metastatic nasopharynx NUT carcinoma, one of the rarest and most aggressive cancers. We conducted a comprehensive analysis of this patient's tumor, including Tumor Mutation Burden, Microsatellite Instability, and genetic profiling to explore further putative druggable targets. The tumor exhibited high PD-L1 expression and showed a notable response to immune checkpoint inhibitors when combined with platinum-based radio-chemotherapy. Our findings indicate that checkpoint inhibitors could play a critical role in treating NUT carcinoma, offering new therapeutic avenues and hope for patients with this challenging diagnosis. Whether PD-L1 expression may be a useful predictor of immune checkpoint inhibitor efficacy warrants further research.
罕见癌症在诊断、治疗和研究方面面临重大挑战，占全球癌症病例的比例高达25%。由于其罕见性和非典型表现，它们常常被误诊，导致晚期发现和不良预后。在此，我们描述了一例晚期转移性鼻咽NUT癌患者病例，这是最罕见且侵袭性最强的癌症之一。我们对该患者的肿瘤进行了全面分析，包括肿瘤突变负荷、微卫星不稳定性和基因谱分析，以探索更多潜在的可靶向治疗靶点。该肿瘤表现出高PD-L1表达，并且在与铂类放化疗联合使用时，对免疫检查点抑制剂显示出显著反应。我们的研究结果表明，检查点抑制剂在治疗NUT癌中可能发挥关键作用，为患有这种具有挑战性诊断的患者提供了新的治疗途径和希望。PD-L1表达是否可能是免疫检查点抑制剂疗效的有用预测指标，值得进一步研究。
