Peutz-Jeghers综合征
小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 小肠梗阻
- 皮肤黏膜色素沉着
其他诊断因素
- 腹部不适和腹胀
- 腹痛
- 胃肠道出血
- 经肛门息肉脱出
- 睾丸增大（无包块）
- 男性双侧乳房发育
- 疲劳
- 苍白
- 心力衰竭的体征
危险因素
- 阳性家族史
- STK11基因种系突变
诊断性检查
首要检查
- 内镜检查
- 息肉的组织学
- STK11遗传学检测
治疗流程
首次确诊的息肉：有症状或无症状
首次结肠镜后
撰稿人
作者
Brandie Heald, MS, LGC
Licensed Genetic Counselor
Genomic Medicine Institute
Sanford R. Weiss Center for Hereditary Colorectal Neoplasia
Cleveland Clinic
Cleveland
OH
利益声明
BH declares that she has received payment from the following but has no contractual agreement to disseminate product information for them: Speakers Bureau Myriad Genetics Lab, and the advisory board for Invitae. BH is also President of the Collaborative Group of the Americas on Inherited Colorectal Cancer, for which she does not receive payment.
James Church, MD
Victor W. Fazio Chair
Department of Colorectal Surgery
Digestive Disease Institute
Cleveland Clinic
Director
Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia
Cleveland Clinic
Cleveland
OH
利益声明
JC declares that he has no competing interests.
Carol A. Burke, MD, FACP, FACG, FASGE
Director
Center for Colon Polyp and Cancer Prevention
Department of Gastroenterology and Hepatology
Associate Director
Sanford R. Weiss Center for Hereditary Colorectal Neoplasia
Section of Polyposis
Digestive Disease Institute
Cleveland Clinic
Cleveland
OH
利益声明
CAB receives research support from Cancer Prevention Pharmaceuticals.
同行评议者
Daniel Von Allmen, MD
Chief of Pediatric Surgery
University of North Carolina
Chapel Hill
NC
利益声明
DVA declares that he has no competing interests.
Patrick Morrison, MD
Consultant in Clinical Genetics
Department of Medical Genetics
Belfast HSC Trust
Belfast
UK
利益声明
PM declares that he has no competing interests.
鉴别诊断
- 青少年息肉综合征
- PTEN错构瘤综合征
- 遗传性混合息肉病综合征
更多 鉴别诊断指南
- NCCN 肿瘤学临床实践指南：遗传性/家族性高危评估：结直肠癌
- 结直肠癌预防、早期识别和治疗的临床实践指南
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