医学
彭布罗利珠单抗
微卫星不稳定性
结直肠癌
肿瘤科
林奇综合征
内科学
癌症
MSH2
新辅助治疗
DNA错配修复
免疫疗法
乳腺癌
等位基因
生物化学
化学
微卫星
基因
作者
Zhihua Guo,Yue Cai,Weiqiang Yin,Jun Huang
标识
DOI:10.1177/03008916231204735
摘要
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 MSH2 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.
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