Möslein Gabriela
Zentrum für hereditäre Tumorerkrankungen, HELIOS-Universitätsklinikum Wuppertal, Universität Witten/Herdecke, Heusnerstr. 40, 42283, Wuppertal, Deutschland.
Chirurg. 2016 Aug;87(8):709-22. doi: 10.1007/s00104-016-0217-y.
Due to the advances in molecular genetic diagnostics of adenomatous polyposis variants, identification of patients with a genetic predisposition and their at risk relatives is becoming increasingly important in clinical practice. Precise knowledge of the specific risk profile is gaining significance especially for surgeons and requires a clinically differentiated approach in order to correctly identify the indications for prophylactic surgery. In this article reference will be made to the technical details of the pouch operation rather than the decision-making process per se, since this has become common knowledge for specialized colorectal surgeons. Besides the more commonly known polyposis syndromes, such as familial adenomatous polyposis (FAP), surgeons should nowadays at least be able to clinically distinguish between attenuated and classical variants of FAP, be aware of MUTYH-associated polyposis (MAP) and also the new polyposis syndrome polymerase proofreading-associated polyposis (PPAP). Surgeons should be familiar with the specific indications and extent of surgery for prophylactic organ removal in the lower gastrointestinal tract in order to be able to competently advise patients.
由于腺瘤性息肉病变异型分子遗传学诊断技术的进步，在临床实践中，识别具有遗传易感性的患者及其高危亲属变得越来越重要。对于外科医生而言，精确了解特定的风险特征尤为重要，这需要采用临床差异化方法，以便正确确定预防性手术的指征。本文将提及袋状手术的技术细节，而非决策过程本身，因为这已成为专业结直肠外科医生的常识。除了更常见的息肉病综合征，如家族性腺瘤性息肉病（FAP），如今外科医生至少应能够在临床上区分FAP的轻型和经典型变异，了解MUTYH相关息肉病（MAP）以及新的息肉病综合征——聚合酶校对相关息肉病（PPAP）。外科医生应熟悉下消化道预防性器官切除手术的具体指征和范围，以便能够为患者提供专业的建议。
