Griffioen G, Bus P J, Vasen H F, Verspaget H W, Lamers C B
Dept. of Gastroenterology-Hepatology, Leiden University Medical Center, University Hospital Leiden, The Netherlands.
Scand J Gastroenterol Suppl. 1998;225:85-91. doi: 10.1080/003655298750027281.
It is well known that patients with familial adenomatous polyposis (FAP) are at considerable risk of developing extracolonic manifestations of the disease. Particularly, desmoid tumours of the abdominal cavity, and duodenal adenomas and carcinomas are the most serious ones. It is estimated that some 10% of the FAP patients will develop desmoids, whereas 50-90% of the FAP patients will get duodenal adenomas predominantly concentrated on or around the major papilla. Desmoid tumours and duodenal carcinomas are major causes of death in those patients in whom a prophylactic (procto)colectomy has been performed. Desmoids are histologically benign tumours, composed of mature fibroblasts. They usually grow slowly but they can become quite large and may compress or infiltrate surrounding viscera, which might cause significant morbidity as well as mortality. Successful treatment of these tumours is extremely difficult as surgical therapy often requires the removal of considerable lengths of small bowel. Moreover, surgical therapy may lead to uncontrollable bleeding and is seldom radical. Chemotherapy with cytoxic agents seems promising but so far the data are too few for firm conclusions to be drawn. The same holds true for drug regimens which interfere with the metabolic and hormonal metabolism of the tumour. Although various lines of evidence suggest that the adenoma-carcinoma sequence, which is generally accepted for colorectal adenomas, also applies for the duodenal adenomas in FAP patients, it is not clear whether we should screen these patients for upper gastrointestinal adenomas or not. As these polyps are usually small, sessile, multiple and difficult to remove, the benefit of endoscopic surveillance would be the early detection of cancer rather than eradication of the polyps. In addition, evidence that screening and early treatment leads to improvement of the prognosis is not available. Although the role of (procto)colectomy in the treatment of large-bowel polyps is well established in FAP patients, the treatment of their duodenal counterparts is still open for debate. The risk of the development of periampullary cancer is not high enough to warrant an aggressive prophylactic surgical approach, i.e. a Whipple's procedure, immediately after the discovery of duodenal adenomas. The considerable morbidity and mortality rates of this procedure must be weighted against a putative benefit of screening.
众所周知，家族性腺瘤性息肉病（FAP）患者发生该疾病肠外表现的风险相当高。特别是腹腔硬纤维瘤、十二指肠腺瘤和癌最为严重。据估计，约10%的FAP患者会发生硬纤维瘤，而50 - 90%的FAP患者会出现十二指肠腺瘤，主要集中在主乳头或其周围。硬纤维瘤和十二指肠癌是那些已接受预防性（直肠）结肠切除术患者的主要死因。硬纤维瘤在组织学上是良性肿瘤，由成熟的成纤维细胞组成。它们通常生长缓慢，但可能会变得相当大，并可能压迫或浸润周围脏器，这可能导致显著的发病率和死亡率。这些肿瘤的成功治疗极其困难，因为手术治疗往往需要切除相当长一段小肠。此外，手术治疗可能导致无法控制的出血，而且很少能做到根治。使用细胞毒性药物进行化疗似乎有前景，但目前数据太少，无法得出确凿结论。干扰肿瘤代谢和激素代谢的药物方案也是如此。尽管有各种证据表明，一般适用于结直肠腺瘤的腺瘤 - 癌序列也适用于FAP患者的十二指肠腺瘤，但对于是否应该对这些患者进行上消化道腺瘤筛查尚不清楚。由于这些息肉通常较小、无蒂、多发且难以切除，内镜监测的益处在于早期发现癌症而非切除息肉。此外，尚无证据表明筛查和早期治疗能改善预后。虽然（直肠）结肠切除术在FAP患者大肠息肉治疗中的作用已得到充分确立，但其十二指肠息肉的治疗仍存在争议。壶腹周围癌发生风险不足以保证在发现十二指肠腺瘤后立即采取积极的预防性手术方法，即惠普尔手术。该手术相当高的发病率和死亡率必须与筛查的假定益处相权衡。
