Abstract：
A 28-year-old female with a history of treatment for small intestinal polyps and characteristic pigmentation of her lip was clinically diagnosed with Peutz-Jeghers syndrome(PJS). Her sister had the pathogenic variant of STK11 upon genetic testing. A 20-mm polyp was identified in the second part the patient\'s duodenum on routine gastrointestinal surveillance, and biopsy revealed a well-differentiated adenocarcinoma. Laparoscopic partial duodenectomy with endoscopy was planned. After confirming the location of the tumor and Kocherization using a laparoscope, the polyp was resected via submucosal dissection under direct visualization with a small incision. The polyp was diagnosed as well-differentiated adenocarcinoma in situ and was resected without remnants. PJS is characterized by a high incidence of malignant tumors, and lifelong surveillance for gastrointestinal and extra-gastrointestinal tumors is necessary. The incidence of duodenal cancer is not high among patients with PJS. However, surgery for advanced cancer is highly invasive. It is desirable to detect the tumors at an early stage so that they can be resected via a less invasive treatment method such as endoscopic resection or laparoscopic surgery with an endoscope.
摘要：
一名28岁的女性，有小肠息肉的治疗史和嘴唇的特征性色素沉着，被临床诊断为Peutz-Jeghers综合征（PJS）。通过基因检测，她的姐姐患有STK11的致病变体。在常规胃肠道监测中，在患者十二指肠的第二部分发现了一个20毫米的息肉，活检显示为高分化腺癌。计划采用内镜腹腔镜十二指肠部分切除术。在使用腹腔镜确认肿瘤的位置和Kocherization后，息肉通过粘膜下剥离术在小切口直接观察下切除。息肉被诊断为原位高分化腺癌，切除后无残留物。PJS的特点是恶性肿瘤发病率高，对胃肠道和胃肠道外肿瘤进行终身监测是必要的.PJS患者十二指肠癌的发病率不高。然而,晚期癌症的手术是高度侵入性的。期望在早期阶段检测肿瘤,使得它们可以经由较少侵入性的治疗方法(诸如内窥镜切除或使用内窥镜的腹腔镜手术)被切除。
