Department of Thoracic Surgery, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Guangzhou Institute of Respiratory Disease and State Key Laboratory for Respiratory Disease, Guangzhou, China.
Tumori. 2023 Dec;109(6):NP27-NP31. doi: 10.1177/03008916231204735. Epub 2023 Oct 26.
Muir-Torre syndrome, presenting with cutaneous tumors and visceral malignancies, is a variant of Lynch syndrome. The development of immune checkpoint inhibitors provided novel effective treatment options for metastatic colorectal cancer patients with microsatellite instability and deficient mismatch repair. However, the use of immune checkpoint inhibitors in neoadjuvant and adjuvant settings for patients with locally advanced colorectal cancer remains undefined because of limited follow-ups in current studies.
In the present study, we reported a 33-year-old Muri-Torre syndrome patient with stage ⅢC (c.T4N2M0) colorectal cancer and keratoacanthoma. Microsatellite instability / deficient mismatch repair, high tumor mutation burden, and germline mutation were identified by next-generation sequencing. Pembrolizumab monotherapy was used as neoadjuvant treatment and the patient achieved a major pathological response. After surgical resection, pembrolizumab was continuously used in an adjuvant setting for 12 months. The patient remained disease-free with a durable disease-free survival for 44 months. To our knowledge, this is the first and longest follow-up study reporting pembrolizumab as a single-agent neoadjuvant therapy for locally advanced colon cancer.
The results demonstrate promising performance in neoadjuvant and adjuvant settings. Further studies are needed to confirm its potential usefulness as an outcome measure in clinical practice.
穆尔- Torre 综合征表现为皮肤肿瘤和内脏恶性肿瘤，是林奇综合征的一种变异。免疫检查点抑制剂的发展为微卫星不稳定和错配修复缺陷的转移性结直肠癌患者提供了新的有效治疗选择。然而，由于目前研究的随访时间有限，免疫检查点抑制剂在局部晚期结直肠癌的新辅助和辅助治疗中的应用仍未确定。
在本研究中，我们报告了一例 33 岁的 Muir-Torre 综合征患者，患有ⅢC 期（c.T4N2M0）结直肠癌和角化棘皮瘤。通过下一代测序鉴定出微卫星不稳定性/错配修复缺陷、高肿瘤突变负荷和种系突变。采用派姆单抗单药治疗作为新辅助治疗，患者获得了主要的病理缓解。手术后，派姆单抗继续在辅助治疗中使用 12 个月。患者无病生存，无病生存持续 44 个月。据我们所知，这是首例也是最长随访时间的报告派姆单抗作为单一药物新辅助治疗局部晚期结肠癌的研究。
结果表明在新辅助和辅助治疗中有良好的疗效。需要进一步的研究来确认其在临床实践中的潜在有用性作为一种疗效衡量标准。
