Molecular cancer | 罕见儿童肝癌案例：一种新的治疗突破
专业点燃希望约 5 分钟初始三周期后，患者的肿瘤标志物水平恢复正常，并显示部分缓解。 七周期后，疾病稳定，患者表现出显著的症状改善。 最终，患者持续接受pemigatinib和化疗组合治疗，目前生存已超过26个月。
基因检测的重要性：通过新一代测序技术（NGS），发现了FGFR2-PRDM16融合基因，这为个体化治疗提供了依据。 靶向治疗的潜力：Pemigatinib作为一种选择性FGFR抑制剂，在成人CCA治疗中已显示出良好的效果，本例首次证明其在儿童cHCC-CCA中的应用潜力。 联合治疗的策略：Gemcitabine和Cisplatin的联合化疗是治疗胆管癌的标准方案，与靶向药物联合使用进一步提高了疗效。
早期诊断困难：由于影像学和临床表现与HCC或CCA重叠，准确诊断依赖于病理和分子检测。 标准治疗方案缺乏：大多数治疗策略基于成人研究数据，儿童患者亟需更多的临床研究。 分子靶向治疗拓展：FGFR2融合基因虽少见，但其靶向药物显示了显著潜力，为进一步研究提供了方向。
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*本文由深圳市拾玉儿童公益基金会“儿童肿瘤前沿”团队编译或约稿，文中图表均源引自文献原文。本文著作权归文章作者所有，欢迎个人转发分享，未经允许禁止转载，作者拥有所有法定权利，违者必究。如需转载，请留言或联系[email protected]。本文旨在分享儿童肿瘤科研前沿成果，不是治疗方案推荐。如需获得疾病治疗方案指导，请前往正规医院就诊。
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原文摘要（Abstract）
Combined hepatocellular-cholangiocarcinoma (cHCC-CCA), an extremely rare and underinvestigated subtype of primary liver cancer in children, generally has a poor prognosis and greater aggressiveness. Histological diagnosis of cHCC-CCA is difficult because of its diverse components, including hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA). cHCC-CCA shares some genetic alterations with HCC and CCA. However, only a few studies on genetic alterations in fibroblast growth factor receptor 2 (FGFR2) in cHCC-CCAs have been reported in adults. Therapeutic strategies for cHCC-CCAs are limited, and surgical resection is the only standard of care. No standard systemic treatment has been established for unresectable cHCC-CCAs. Herein, we report a rare case of a 14-year-old female patient diagnosed with unresectable cHCC-CCA with multiple liver masses and metastases to the lungs, lymph nodes and peritoneum. Next-generation sequencing (NGS) has identified an FGFR2-PRDM16 fusion, which has not been previously reported as a common FGFR2 fusion. The blood tumour markers alpha-fetoprotein (AFP) and carbohydrate antigen 19 - 9 (CA19 - 9) were both elevated. The patient was treated with pemigatinib (a selective FGFR inhibitor) in combination with Gemcitabine and Cisplatin at our hospital. After three cycles of the combination therapy, the patient achieved a partial response and normalization of tumor markers. After seven cycles of combination therapy, the patient achieved stable disease with the best response. Subsequently, the patient was administered received pemigatinib and gemcitabine. As of the last follow-up date, the patient has survived for 26 months. To the best of our knowledge, this is the first reported rare case of unresectable cHCC-CCA with FGFR2-PRDM16 fusion in a child successfully treated with a combination of pemigatinib and chemotherapy as a first-line regimen. This treatment combination may be effective and safe for patients with unresectable cHCC-CCAs.
DOI: 10.1186/s12943-024-02190-w