结肠、直肠、肛门

112例结直肠肿瘤腹腔镜手术临床分析；NF-μB信号传导通路在大鼠急性结肠炎应激反应中的作用；胰岛素样生长因子Ⅰ型受体单克隆抗体对结肠癌细胞生长的影响； 家族性腺瘤性息肉病伴发硬纤维瘤的诊断和治疗；三环形回肠贮袋-肛管吻合术在全结肠切除术中的应用……[编者按]     

大肠多发性腺癌122例外科治疗体会

本文报告１９５３－１９９２年间１２２例大肠多发性腺瘤手术治疗的远期疗效。其中非家族性多发性腺瘤３３例，家族性腺瘤性息肉病８９例。全组无手术死亡。１１５例获得随访（１－３６年），随访率９４．３％，６５％病例的随访时间在５年以上。２３例术时伴癌变，另有３例术后现癌变，总癌变率为２１．３１％。根据本组手术治疗效果，文中详细讨论了非家族性多发性腺瘤与家族性腺瘤性息肉病的术式选用原则。     

家族性腺瘤性息肉病的外科治疗

目的：分析大肠家族性腺瘤性息肉病（FAP）的临床特点，探讨其手术治疗方法。 方法 ： 回顾性分析近14年多来收治的28例大肠FAP患者的临床特点和治疗方法。28例中20例有家族史，6例已发生癌变。结果： 28例均行手术治疗，行全结肠切除直肠黏膜剥除回肠造袋肛门吻合术25例（89.3％），其他术式3例。手术后无严重并发症发生。术后辅以非甾体类抗炎药，或他莫西酚治疗。28例均得到随访2~14年，4例死亡（14.3％）。余者术后生存质量满意，排便功能良好。未发现回肠粪袋息肉形成。结论 ：手术是治疗家族性腺瘤性息肉病的主要方法，它可预防肠息肉癌变。术后使用非甾体类抗炎药，或他莫西酚治疗对家族性腺瘤性息肉病的复发有预防作用。     

年轻患者结直肠切除、回肠储袋肛管吻合术的长期效果

结直肠切除、回肠储袋肛管吻合术是治疗家族性腺瘤性息肉病和药物治疗无效的溃疡性结肠炎的最佳术式,但就实行该手术的年轻患者的长期效果的随访资料却很少。为了探讨家族性腺瘤性息肉病或溃疡性结肠炎的年轻患者在接受结直肠切除、回肠储袋肛管吻合术后的远期效果（如功能恢复、生活质量、形象、性功能等）,vanBalkomKA等人对1992年1月至2008年10月期间在马斯特里赫特大学医学中心因家族性腺瘤性息肉病或溃疡性结肠炎行结直肠切除、回肠储袋肛管吻合术的26例年轻患者的临床资料进行了回顾性分析,本组患者年龄10～24岁,术后至少随访1年。     

飞行质谱技术分析家族性腺瘤性息肉病血清蛋白质谱变化

目的研究家族性腺瘤性息肉病（FAP）患者血清蛋白质的变化,建立灵敏度和特异度高的FAP诊断模型。方法利用SELDI-TOFMS技术对9例FAP术前患者和18例FAP术后患者血清蛋白质分别进行检测．构建诊断模型．并用同样方法对9例FAP恶变术前组和12例FAP恶变术后组进行检测并构建诊断模型。结果M8514．89蛋白质组成的模型可将2组准确分组．灵敏度和特异度分别为88．89％（8／9）和100％（18／18）：同时对9例家族性腺瘤性息肉病恶变术前组患者和12例恶变术后组患者血清进行分析,M6332．21蛋白质组成的模型可将2组准确分组,灵敏度和特异度分别为100％（9／9）和91．67％（11／12）。结论SELDI-TOF MS技术可将家族性腺瘤性息肉病术前、术后及恶变前后正确分组,可应用于家族性腺瘤性息肉病的诊断、鉴别和手术时机的选择。     

1例FAP患者腹腔镜全结肠切除术的护理

对1例家族性腺瘤性息肉病(FAP)患者在全麻下行腹腔镜全结肠切除术.结果手术顺利,术后患者恢复良好.提出术前良好的心理沟通、充分的术前准备、手术方式的慎重选择及术后周密细致的护理措施是手术成功的基础.     

大肠家族性腺瘤性息肉病癌变的治疗

目的:分析大肠家族性腺瘤性息肉病的临床特点并探讨正确的手术治疗方法。方法:分析1985年1月～2002年8月我院收治的19例家族性腺瘤性息肉病癌变病例。结果:19例病人均发生癌变,6例有大肠癌家族史;肿瘤大小平均为5cm;Dukes分期:A期3例,B期7例,C期7例,D期2例;9例发生淋巴结转移;随访17例,2例死亡。结论:手术治疗仍为主要的治疗方案,应采用全结肠切除,回肠、直肠或肛管吻合,J形储袋是应推荐的手术方案。     

腹腔镜手术治疗家族性腺瘤性息肉病临床分析

目的探讨家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)的微创外科治疗疗效与安全。 方法回顾性分析2010年2月至2017年3月于北京协和医院行腹腔镜手术治疗的16例FAP患者的病例资料。 结果16例患者均完成腹腔镜手术,其中行全结直肠切除、回肠储袋肛管吻合术6例,全结肠直肠切除、回肠端式造口5例,全结肠切除、回肠直肠吻合术5例;无中转开腹,手术时间(227.9±52.7)min,平均术中出血量(98.1±90.7)ml。5例(31.2%)发生腺瘤癌变,4例(25.0%)伴高级别上皮内瘤变。14例患者获得长期随访,其中4例患者残余直肠新发息肉、3例患者术后发生腹腔硬纤维瘤。1例FAP合并肠癌患者术后1.5年因肝转移死亡。 结论腹腔镜手术治疗FAP安全可行;FAP患者术后需定期复查。     

全结肠切除术治疗家族性多发腺瘤性息肉病六例

目的 探讨全结肠直肠切除回肠储袋肛管吻合术治疗家族性多发腺瘤性息肉病的效果.方法 回顾性分析2005年6月至2012年6月行全结肠切除术治疗家族性多发腺瘤性息肉病6例的临床资料.结果 6例患者均施行了全结肠直肠切除,回肠储袋肛管吻合术,同时作临时回肠造口术,均3个月后还纳;手术后无严重并发症发生.6例随访6个月至7年,2例患者肿瘤复发,1例死亡,5例仍存活,1例再次行肿瘤切除.6例术后能正常工作和生活,排便功能好.结论 回肠储袋肛管吻合术治疗家族性多发腺瘤性息肉病、切除彻底,术后控便能力比较好,不影响工作和生活,是治疗家族性多发腺瘤性息肉病比较好的手术方式,手术宜早.     

完全性腹腔镜全结肠切除治疗家族性腺瘤性息肉病(附8例报告)

目的:探讨腹腔镜完全性全结肠切除术治疗家族性腺瘤性息肉病(fam ilial adenom atous polyposis,FAP)的可行性与安全性。方法:应用腹腔镜全结肠切除术治疗家族性腺瘤性息肉病8例,总结手术过程及术后恢复情况。结果:8例手术均获成功,下腹部正中切口长度平均为5 cm,手术时间260~340m in,术中失血约80~350m l。术后2~3d排便排气,住院时间6~10d。随访2~3个月无近期并发症发生。结论:腹腔镜完全性全结肠切除治疗FAP创伤小、恢复快,安全、可行,但尚需进一步的手术病例积累。     

Chemotherapy for desmoid tumours in association with familial adenomatous polyposis: a report of three cases

Objective

To determine the efficacy of chemotherapy for inoperable desmoid tumours associated with familial adenomatous polyposis.

Design

A review of three cases of unresectable desmoid tumours and of the literature on the subject.

Setting

The Steven Atanas Stavro Polyposis Registry at Mount Sinai Hospital in Toronto.

Patients

Three patients with symptomatic, unresectable desmoid tumours associated with familial adenomatous polyposis and unresponsive to conventional hormone therapy.

Intervention

A chemotherapy regimen of seven cycles of doxorubicin (dose ranging from 60 to 90 mg/m²) and dacarbazine (1000 mg/m²), followed by carboplatin (400 mg/m²) and dacarbazine.

Outcome Measures

Clinical improvement and tumour regression demonstrated by computed tomography.

Results

In each of the three cases significant tumour regression was seen clinically and radiologically.

Conclusions

Cytotoxic chemotherapy is an effective treatment for desmoid tumours associated with familial adenomatous polyposis. The chemotherapy should be started early in cases of symptomatic desmoid tumour unresponsive to conventional medical therapy.     

Comprehensive genetic and endoscopic evaluation may be necessary to distinguish sporadic versus familial adenomatous polyposis-associated abdominal desmoid tumors

BACKGROUND: There are limited data regarding how many patients with desmoid tumors actually represent cases with underlying familial adenomatous polyposis. METHODS: A proband presenting with desmoid tumors and several of the family members underwent a detailed family history, genetic (adenomatous polyposis coli [APC] gene sequencing), and upper and lower endoscopic evaluation. RESULTS: The proband's initial diagnosis was of a sporadic desmoid tumor. Colonoscopy was entirely normal. However, on subsequent esophagogastroduodenoscopy, several gastric polyps were found. The proband's mother subsequently underwent colonoscopy and was found to have multiple colon adenomas. On genetic analysis, a deletion of "T" was identified at codon 2645 of the APC gene in the proband. The proband's mother had a normal APC protein truncation test result. However, on full gene sequencing, the mother was found to harbor the same APC gene mutation. CONCLUSION: A detailed family history and endoscopic and genetic evaluations for patients with desmoid tumors are vital because they may be the sentinel presentation of familial adenomatous polyposis. If confirmed in larger studies, APC full gene sequencing and upper and lower gastrointestinal tract evaluation may need to be part of standard evaluation of patients with abdominal desmoid tumors.     

Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy

HYPOTHESIS: Extracolonic manifestations have a major effect on the morbidity and mortality of patients with familial adenomatous polyposis following proctocolectomy. DESIGN: Case review study. SETTING: Colorectal unit, university-affiliated hospital. PATIENTS: Fifty patients (25 males and 25 females) with familial adenomatous polyposis WHO underwent proctocolectomy between January 1988 and October 2003. INTERVENTIONS: Ileal pouch-anal anastomosis (n = 41), Kock pouch (n = 1), end ileostomy (n = 6). Two patients underwent total colectomy with an ileorectal anastomosis. MAIN OUTCOME MEASURES: Clinical follow-up and telephone interview; contact with clinicians following up patients elsewhere. RESULTS: The patients' median age at surgery was 33 years. The mean length of follow-up was 74 months. Four patients were lost to follow-up. Extracolonic manifestations were diagnosed in 38 patients (76%). Twelve patients had 14 desmoid tumors: 7 were treated surgically and 7 medically (these patients received celecoxib and tamoxifen citrate therapy). Of the 41 patients who underwent upper gastrointestinal tract endoscopy, 11 developed duodenal and/or ampullary adenomas. Three patients had endoscopic polypectomy and 1 underwent a Whipple operation. Among the 29 patients who underwent pouchoscopy, 5 had pouch adenomas and 3 had adenomas that were found in the rectal stump. Two patients died--one of a huge mesenteric desmoid tumor and the other of an aggressive mesenteric malignant fibrous histiocytoma. CONCLUSIONS: Long-term morbidity and mortality were strongly related to the development of mesenteric tumors and ampullary-duodenal polyps. Early detection of desmoid tumors, duodenal, pouch, and rectal cuff adenomas by periodic computed tomography, gastroduodenoscopy, and pouchoscopy, respectively, may allow control by medical therapy, endoscopy, or limited surgical procedures. In most patients control of desmoid tumors was achieved using a combination of celecoxib and tamoxifen citrate therapy.     

MODIFICATION OF GROWTH OF DESMOID TUMOURS IN TISSUE CULTURE BY ANTI-OESTROGENIC SUBSTANCES: A PRELIMINARY REPORT

Background : Tamoxifen and toremifene have been used in patients with advanced desmoid tumours with response rates of 51%. Method : We developed an experimental model of desmoid tumour cells in tissue culture to study their effect. Four cell lines were established in tissue culture. All native and corresponding cultured tumours were oestrogen receptor negative. Tumour I was from a 22 year old with familial adenomatous polyposis (FAP) and recurrent abdominal wall desmoid turnours. She remains disease free on tamoxifen 4 years following surgery. Both her mother and sister also have shown regression of their FAP-associated desmoid tumours at the menopause and on tamoxifen, respectively. We assessed the effect of tamoxifen on desmoid tumours in tissue culture at 780 ng/mL. The results were assessed by cell density counting. Results : Tumours 1 and 2 have responded with an approximately 50% reduction in growth to tamoxifen at 780 ng/mL. Conclusions : This apparent growth inhibitory effect of tamoxifen on two desmoid tumour cell lines appears to be independent of oestrogen and correlates with the in vivo effect of tamoxifen on three desmoid tumours in an FAP family.     

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目的 总结家族性息肉病的临床诊断与治疗经验。方法 对1985—2003年21例家族性息肉病病人的诊断与治疗进行回顾性分析。结果 21例均行纤维结肠镜检查，诊断全结肠及直肠息肉14例(67％)、直肠及乙状结肠息肉7例(33％)。21例均行手术治疗。结论 家族性息肉病有明显的家族史，临床以血便为主要表现，同时可伴有腹痛、腹泻。纤维结肠镜临床检查可确定诊断。手术是治疗家族性息肉病的首要方法。可根据病人的具体情况选择术式。     

Gardner综合征的诊治(附一家系8例病人的报道)

目的:通过对一个Gardner综合征家系的追踪调查,明确该病的诊断、治疗原则,使更多的临床工作者认识、了解该病,提高治愈率,降低死亡率。方法:利用查体、内镜(纤维结肠镜、纤维胃镜)、骨骼X线平片、病理活检等方法对一个疑似Gardner综合征家系的42位成员进行筛查。结果:通过筛查共确诊家系中患该病者8例(发病率19.0%),其中男女各4例;年龄12～81岁。病人中出现结肠腺瘤性息肉病变者8例(100%),其中发生恶变者为3例(37.5%),平均癌变年龄35.9岁。病人中出现硬纤维瘤病变者共3例(37.5%),均为已生育后的女性,3例的病变部位均位于腹部(2例单纯性腹壁硬纤维瘤,1例除腹壁外还有腹腔硬纤维瘤病变)。病人中出现骨损害病变者2例,皆为男性青少年,部位在颅骨及颌面骨,呈多发性。8例病人中死亡3例(死亡率37.5%),2例死于息肉癌变,1例死于腹腔内硬纤维瘤病。结论:Gardner综合征病人的诊断意义不仅在于对患病个体的治疗,更重要的是对家系中其他成员的筛查、诊断,尤其是对无症状病人和尚未出现严重并发症的病人。早期诊断的意义在于早期应用药物、放疗等方法阻止或延缓结肠腺瘤性息肉病的发展和癌变,从而推后手术时间,防止因手术创伤导致腹壁和(或)腹腔硬纤维瘤病的发生、发展。合理的控制和治疗结肠腺瘤性息肉及癌变,恰当的治疗腹部硬纤维瘤病尤其是腹腔和肠系膜硬纤维瘤病,是提高病人术后生存率、降低死亡率的重要手段。     

Desmoid tumours complicating familial adenomatous polyposis.

BACKGROUND: Desmoid tumours are one of the most important and intriguing extracolonic manifestations of familial adenomatous polyposis (FAP). They have been studied only in small numbers of patients. METHODS: Patients with FAP who also had desmoid tumour were identified from a polyposis registry database and their hospital notes were reviewed. RESULTS: There were 166 desmoids in 88 patients (median age 32 (interquartile range 22-38) years; 51 (58 per cent) female); 83 tumours (50 per cent) were within the abdomen and 80 (48 per cent) were in the abdominal wall. All but 16 individuals (18 per cent) had already undergone abdominal surgery, which was significantly more recent in women (P = 0.01, Mann-Whitney U test). Intra-abdominal desmoids caused small bowel and ureteric obstruction and resulted in ten deaths; survival was significantly poorer than in patients with abdominal wall desmoid alone (chi2 = 3. 93, 1 d.f., P = 0.047, log rank test), and eight of 22 patients who underwent resection of intra-abdominal desmoid died in the perioperative period. CONCLUSION: Abdominal wall desmoids caused no deaths or significant morbidity; although recurrence was common after excision, the treatment was safe. Intra-abdominal desmoids can cause serious complications and treatment is often unsuccessful; in particular, surgery for desmoids at this site is hazardous.     

Recurrent pancreatitis in Gardner variant familial polyposis: etiology, diagnostic approach, and interventional results

HYPOTHESIS: Pancreatitis arising from an obstructing ampullary neoplasm in patients with Gardner variant familial polyposis is an infrequently described clinical entity. We reviewed all patients with Gardner variant polyposis presenting with pancreatitis during a 12-year period in our institution, hoping to better define etiology and the appropriate diagnostic and interventional approach. METHODS: A retrospective record review (1986-1998) defined patient demographics, presenting features, initial and subsequent endoscopic retrograde cholangiopancreatography (ERCP) findings, subsequent treatments, and both immediate and long-term outcomes. Particular consideration was given to initial post-ERCP diagnosis and to endoscopic interventions undertaken at that time. We also looked at those patients who eventually required surgical intervention after long-term failure of medical and endoscopic therapy, the indications for surgery, final pathological characteristics, and follow-up results. RESULTS: Eight patients (6 women and 2 men), with a mean age of 42 years at initial presentation, were found. Each patient was known to have Gardner variant familial polyposis at the time of the initial bout of pancreatitis. All had undergone prior colectomy and 4 of 8 had undergone prior cholecystectomy. None were known to be taking medications or ingesting pancreatoxic substances. Five of 8 patients had obstructing focal or diffuse adenomatous disease involving the ampulla. Two of 8 patients had pancreatitis attributed to other causes (divisum, stones) and a single patient had no clear etiology. Three of 5 patients with ampullary adenomatous disease underwent pancreaticoduodenectomy for recurrent adenomatous encroachment and ampullary stenosis, despite repetitive snare resection and papillotomy. All of these patients had ampullary and other duodenal adenomas, and none had malignant disease. CONCLUSIONS: Patients presenting with pancreatitis in the setting of Gardner variant familial polyposis will frequently have an obstructing ampullary neoplasm, although additional etiologies should be sought. Initial endoscopic therapy affords transient relief but may not be definitive. The abnormal scarring and fibrosis (keloid formation, desmoid reaction) that characterize this disease likely play a large role in endoscopic or subsequent surgical failure. A significant number of these patients will go on to require surgical referral and intervention.     

A 10-year review of surgery for desmoid disease associated with familial adenomatous polyposis

BACKGROUND: Desmoid tumours affect 10-25 per cent of patients with familial adenomatous polyposis and represent a major cause of morbidity and mortality. Surgery for intra-abdominal desmoids has traditionally been used as a last resort or to manage obstructive complications. The aim was to review 10 years of desmoid surgery in patients with familial adenomatous polyposis from a single centre. METHODS: Patients who had surgery for desmoid disease between 1994 and 2004 were identified from the Polyposis Registry database and their hospital notes reviewed. RESULTS: Twenty patients had surgery to remove 32 desmoid tumours (16 intra-abdominal, 12 abdominal wall, four extra-abdominal). Complete clearance was achieved in 19 tumours and, of these, clinically significant recurrence occurred in eight. There was no difference in recurrence rates for site or sex. There was no operative mortality. Intra-abdominal desmoid resection was associated with a mean resection of 45.55 (range 10-200) cm of small bowel. One patient required long-term parenteral feeding. Median follow-up was 5 (range 0.6-10) years. During this period, one patient died (metastatic duodenal cancer); there was no mortality from desmoid disease. CONCLUSION: Surgery for intra-abdominal desmoids in selected patients is less hazardous than previously reported. Surgery for abdominal wall and extra-abdominal tumours is safe. However, disease recurrence remains a major problem.     

Desmoid tumors in three patients

Desmoids are rare tumors of the connective tissue. It develops about 1:1000 times more in patients with familial adenomatous polyposis (FAP, Gardner syndrome) compared to normal population. It has been shown in molecular genetic examinations, that different mutations of the APC gene are responsible for desmoid tumors in FAP. It means, that this disease is one of the extraintestinal manifestations of Gardner syndrome. This tumor has high recurrence rate and is growing rapidly, and as a result it is the second most common cause of death in FAP patients. That is why genetic examination for FAP patients is advised to decide if the patient has higher risk for desmoid formation. If the result of the genetic test is positive, it is advisable to try to slow the progression of polyposis with medical treatment, and so to delay the date of the colectomy because the surgical intervention--and connective tissue damage--can induce desmoid formation in these patients. At the same time it is reasonable to examine and regularly control patients with sporadic desmoid tumors searching for other manifestations of Gardner syndrome (colon, stomach and duodenum polyposis, tumor of papilla Vateri, retinopathy, etc.). Palliative surgery is not indicated in patients with inoperable intraabdominal desmoid tumors, because partial resections (R1, R2, debulking) result in further tumor progression. In these patients medical treatment (sulindac, tamoxifen), chemotherapy (doxorubicin, dacarbazin) and radiotherapy or combination of them can result tumor remission. We describe our three patients (an abdominal wall desmoid four years following Cesarean section; a desmoid tumor in the retroperitoneum and in the pelvis diagnosed three years after total colectomy; and a retroperitoneal and abdominal wall desmoid one year after total colectomy) and etiology, diagnosis and therapy of desmoid tumors are discussed.