Xu Zuxin, Gu Guoli
Fifth Clinical College of Anhui Medical University, Air Force Clinical College of Anhui Medical University, Beijing, China.
Department of General Surgery, Air Force Medical Center, Beijing, China.
Clin Colon Rectal Surg. 2023 May 3;36(6):406-414. doi: 10.1055/s-0043-1767704. eCollection 2023 Nov.
Peutz-Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are ∼7,000 new cases of PJS in China every year, and 170,000 PJS patients may survive for a long time in society. PJS polyps are characterized by an early age of onset, difficult diagnosis and treatment, and easy recurrence. With repeated growth, polyps can lead to serious complications such as intestinal obstruction, intussusception, gastrointestinal bleeding, and cancerization, which cause serious clinical problems. Due to repeated hospitalization and endoscopic follow-up, PJS patients and their families suffer from great physical and mental pain and economic burden. With the in-depth understanding of PJS and the development and popularization of endoscopic techniques in the past decade, an integrated treatment modality based on endoscopy plus surgery has gradually become the preferred treatment in most hospitals, which greatly improves the quality of life of PJS patients. However, there is still a lack of effective drug prevention and cure means. In this paper, the current clinical treatment means for PJS polyps were summarized by literature review combined with the treatment experience of our medical center, with a focus on their clinical diagnosis, treatment, and cancer risk.
黑斑息肉综合征(PJS),又称遗传性黏膜皮肤色素沉着胃肠道息肉病,是一种临床罕见的常染色体显性遗传病,属于遗传性结直肠癌范畴。中国每年约有7000例新发PJS病例,17万PJS患者可能长期存活于社会中。PJS息肉具有发病年龄早、诊治困难且易复发的特点。随着息肉反复生长,可导致肠梗阻、肠套叠、胃肠道出血及癌变等严重并发症,引发严重的临床问题。由于需反复住院及内镜随访,PJS患者及其家庭承受着巨大的身心痛苦和经济负担。随着对PJS认识的深入以及近十年来内镜技术的发展与普及,内镜联合手术的综合治疗模式已逐渐成为多数医院的首选治疗方法,这极大地提高了PJS患者的生活质量。然而,目前仍缺乏有效的药物防治手段。本文通过文献复习并结合本医疗中心的治疗经验,总结了当前PJS息肉的临床治疗方法,重点阐述了其临床诊断、治疗及癌变风险。