家族性腺瘤性息肉病六家系临床分析

目的：探讨家族性腺瘤性息肉病的早期诊断和治疗，方法：通过家系调查，绘制每个家系的患病分布图，进行系谱分析；回顾性分析资料完整的6个家系，总结其临床特征，对高危亲属进行随访（肠镜监测），结果：6个家系125位成员中患病20例，男女比例为14：6，平均年龄38．5岁，20例中6例先证行全结肠切除，直肠黏膜剥除，回肠储袋直肠肛管肌鞘吻合术（IPAA）；其中首诊时登工息肉癌变1例，1例术后直肠残留息肉癌变，改行直肠切除，回肠永久性造口，12例行全结肠切除，回肠直肠吻合术（IRA），其中有6例首诊癌变，5例死于结直肠癌术后复发和术后肝转移，死亡病例中位年龄48岁，通过肠镜随访监测发现无症状患2例，年龄分别为18、23岁，行预防性IPAA效果满意，结论：通过家系调查，对高危亲属的追踪管理、肠镜监测，可以发现早期病例，行预防性手术效果满意。     

结直肠息肉的癌变因素分析及治疗方法探讨

目的：探讨结直肠息肉癌变的相关因素和治疗方法。方法：回顾分析电子结肠镜检查出的结直肠息肉患的临床、内镜及病理资料，分析影响结直肠息肉病变的相关因素。结果：124例结直肠息肉中，以左半结肠、圆形、单个、腺瘤性息肉居多。息肉癌变或同时伴有肠癌的20例中，有19例是腺癌性息肉。多发性息肉癌变率（39．5％）高于单个或2个息肉患。直径2．0cm以上息肉癌变率（29．4％）高于2．0cm以下的患。肠镜下息肉除99例，肠发开息肉切除4例，肠切除术21例。结论：结直肠息肉数目越多越大癌变率越高，多发广基腺瘤性大息肉最易癌变。带蒂的息肉和小而无蒂的息肉，均可在结肠镜下除。伴肠癌息肉、有癌变的较大息肉或多发性息肉则应当行肠切除术。     

家族性腺瘤性息肉病17例的诊断与外科治疗

目的：总结家庭性腺瘤性息肉病（FAP）的诊断和外科治疗经验。方法：回顾分析17例FAP的临床病理资料。结果：17例患者中男7例，女10例，平均年龄23．8岁，良性13例，平均年龄19．6岁，癌变4例，平均年龄37．8岁，13例有家庭史。家系调查发现1个家系至少有2例患者，最多可达7例，其中，6个家系中有7人已死于息肉癌变，全部患者均施行了全结肠切除，并分别采用回肠造口，回肠储袋，回肠肛管吻合等术式，随访2－20年，13例良性患者均存活。其中1例术后5年发生癌变，癌变者中1例术后5年发生肺部转移，行肺叶切除术后2年死亡，1例术后3年因广泛转移死亡，另2例为术后2年和6年，仍存活 。结论：FAP易癌变应尽早手术，手术宜选全结肠切除，直肠粘膜剥脱，回肠储袋，回肠肛管吻合术。     

遗传性非息肉病性结直肠癌九个家系的诊治和随访

目的 总结遗传性非息肉病性结直肠癌（ HNPCC） 9个家系的诊断、治疗和随访经验。方法 对我院经治的 9个 HNPCC家系的诊治情况和随访结果进行回顾性分析。结果 9个家系中共有患者 35例 (结直肠癌患者 28例 ),平均发病年龄为 47岁。 35例患者共被诊断为各种恶性肿瘤 55例次,其中结肠癌 29例次（右侧结肠癌 23例次）,直肠癌 12例次,胃癌 4例次,子宫内膜癌和宫颈癌 5例次,食管癌 2例次,乳腺癌、胰腺癌、脑恶性胶质瘤各 1例次。在本组诊断多原发癌患者 11例 ,含异时性多原发结肠癌 8例。 28.5％的结直肠癌患者首次手术 10年内再发异时性结直肠癌而需手术治疗。随诊中发现 2例多原发性结直肠癌患者继发肝转移,另 2例患者发现有 4枚结肠息肉,均经结肠镜切除。结论 常规根治手术不适于本病结直肠癌患者的治疗 ,对已发生结直肠癌的 HNPCC患者应行全结肠（直肠）切除术。对术后患者和可能的突变基因携带者应积极随访,及时切除发现的息肉。     

黑斑息肉综合征的外科治疗(附8例报告)

目的总结黑斑息肉综合征的外科治疗经验。方法回顾性分析我院1986～2002年期间收治的8例黑斑息肉综合征患者的临床资料。结果8例中行部分小肠切除(其余段小肠多处切开，切除息肉)5例；胃大部切除术2例；右半结肠切除术1例。本组1例肠套叠致肠坏死急诊行肠切除，术后2年，因小肠息肉引起肠套叠致肠坏死，再次手术切除坏死肠段；1例术后内镜随访中发现直肠息肉，给予内镜下电灼切除；其余6例未见复发。结论黑斑息肉综合征手术主要是针对胃肠道息肉的治疗，解除临床症状；并注意把握手术时机，严格遵循手术适应证，并加强术后的随访。     

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.     

家族性腺瘤性息肉病12例临床分析

目的 总结家族性腺瘤性息肉病(FAP)诊断治疗经验。方法 回顾分析12例FAP的临床病理资料。结果 男5例，女7例，平均32岁。良性5例，平均25岁。恶性7例，平均37岁。8例有家族史，其中4个家系中有7人死于大肠癌。病史2～20年，息肉数均>100个，最多达3～7个／cm^2，7例癌变。全部病例均施行了全结肠切除，并分别采用回肠造口、回肠储袋及保肛手术。未癌变均存活。癌变有3例术后半年内出现脑、肝或腹腔转移。结论 FAP易癌变，且癌变发生早，应争取在癌变前行结直肠全切除。手术以直肠粘膜剥脱，回肠储袋，回肠肛管吻合术为首选。     

家族性结直肠腺瘤样息肉病58例报告

目的 总结家族性结直肠腺瘤样息肉病(FAP)的最佳手术方式及临床效果.方法 对58例FAP患者的临床资料进行总结.结果 58例中良性45例,癌变13例.全部患者均施行了全结肠切除,采用回肠造口8例,部分直肠切除和回直肠吻合16例,直肠切除、回肠贮袋肛管吻合4例,直肠切除、直肠黏膜剥脱经直肠肌鞘内回肠J形贮袋肛管吻合30例(随访1～5年,大便次数2～4次/d,肛门有控便能力,无息肉复发、癌变,均能参加重体力劳动).本组严重并发症5例.随访6个月～8年,良性患者术后均存活,6例术后5～7年发生癌变而再次行手术.13例癌变者中,4例术后6～13个月因肿瘤广泛转移死亡,另9例仍存活.排便功能以回肠造口术较差,保留直肠的术式较好.结论 治疗FAP,选择全结肠切除、保留直肠肌鞘、回肠贮袋、回肠肛管吻合术较合适.     

内镜下尼龙绳套扎联合高频电凝切除治疗结直肠息肉的疗效

目的 探讨内镜下应用尼龙绳套扎联合高频电凝切除治疗结直肠息肉的临床疗效与安全性.方法 回顾性分析2006年1月至2011年1月复旦大学附属中山医院内镜下应用尼龙绳套扎联合高频电凝切除治疗345例结直肠息肉患者的临床资料.观察患者术后有无出血、穿孔等并发症发生;肠镜随访观察患者术后创面愈合及病变残留、复发情况.结果 345例患者共成功切除362枚结直肠息肉.息肉直径1.5 ～4.0 cm,平均直径2.7 cm;1例患者术中出血;1例患者发生迟发性穿孔.93.6％(339/362)的息肉经病理检查证实为腺瘤性息肉,17枚为增生性息肉,5枚为炎症性息肉,1枚息肉出现癌变.334例患者术后1个月复查肠镜,9例患者残蒂存留,再次予内镜下切除,其余患者术后创面愈合良好,残蒂脱落消失.308例患者术后2个月获得肠镜检查随访,病灶均完全消失.患者首次治疗有效率为97.1％( 299/308).结论 内镜下应用尼龙绳套扎联合高频电凝切除结直肠息肉安全、有效.     

腹腔镜联合结肠镜治疗复杂、特殊类型的结直肠息肉

目的探讨腹腔镜联合结肠镜治疗结直肠息肉的疗效。方法良性息肉行腹腔镜辅助结肠镜下息肉切除术,腹腔镜辅助结肠镜下息肉切除困难者或有风险者可选用结肠镜辅助腹腔镜下肠段切除术,复杂病例采用混合术式（腹腔镜辅助结肠镜下息肉切除术＋结肠镜辅助腹腔镜下肠段切除术）。结果腹腔镜辅助结肠镜下息肉切除术14例,手术时间55～158min,平均103min。结肠镜辅助腹腔镜下结肠癌根治术2例,手术时间分别为182、206min。结肠镜辅助腹腔镜降结肠部分切除术（降结肠多发息肉,其中1枚息肉为无蒂息肉）1例,手术时间98rain。混合术式2例,手术时间分别为102、166min。19例术后随访10～48个月,平均28个月,无一例息肉残留、复发或再次手术。结论腹腔镜联合结肠镜治疗结直肠息肉疗效满意。     

家族性腺瘤性息肉病的诊断与治疗

目的 总结家族性腺瘤性息肉病（ＦＡＰ）的诊断和治疗经验。方法 回顾性分析１３例ＦＡＰ的临床病理资料。结果 本组１３例患者,男５例,女８例,平均年龄３１．５岁。其中良性５例,平均年龄２５岁;癌变８例,平均年龄３６岁。８例有家族史者源于６个家系,３代中共发现１９例患者其中４个家系中有７例２死于大肠癌。本组患者病史２－２０年,每例息肉数均超过１００个。最多达３－９个／ｃｍ＾２。全部病例均施行了全结肠切除     

Juvenile Polyp in Thai Children—Clinical and Colonoscopic Presentation

Background The aim of this prospective study was to describe the clinical characteristics of colorectal polyp in Thai children. Methods From December 2002 to February 2005, children under 15 years of age presenting with rectal bleeding were prospectively enrolled. Demographic, clinical, and laboratory information was recorded. Location, number, characteristics, and histopathology of the polyps were noted. Results There were 32 patients with a mean age of 6.5 years. The most common presenting symptom was hematochezia, followed by prolapsing rectal mass and diarrhea. In 20 patients there was a single polyp, 6 had 2–4 polyps, and 6 were diagnosed with polyposis coli. Most of the polyps were located exclusively at the rectum and sigmoid colon. In only 7 cases were the polyps proximal to the rectosigmoid region. This included 6 patients who had polyps beyond the splenic flexure. All were juvenile polyps without evidence of adenomatous changes. Compared to those with isolated polyps, the patients with polyposis coli had a statistically significant incidence of right-sided polyps (P <0.001) and a history of prolapse of the rectal mass (P = 0.006). Conclusions Because of the high prevalence of right-sided polyps and the concern about malignant transformation, colonoscopy should be considered as the initial evaluation in children with rectal bleeding.     

Nonfamilial Juvenile Polyposis Coli Manifesting as Massive Lower Gastrointestinal Hemorrhage: Report of Two Cases

Juvenile polyposis syndrome is an uncommon hamartomatous disorder with gastrointestinal (GI) manifestations of varying degree and malignant potential. We report the cases of an 8-year-old girl and a 5-year-old girl who suffered massive lower GI hemorrhage. Neither patient had a family history of polyposis. After the patients were stabilized, radiological evaluation, laparotomy, and intraoperative colonoscopy revealed multiple polyps in the colon. Both patients underwent total colectomy, mucosal proctectomy, and ileoanal anastomosis. The diagnosis of nonfamilial juvenile polyposis was based on the histological findings and the absence of a family history. To our knowledge, this presentation of juvenile polyposis has been reported only twice before. We discuss the clinical features and diagnosis of juvenile polyposis and the treatment options. Although juvenile polyposis is a rare condition in children, it should be considered in the differential diagnosis of life-threatening GI hemorrhage.     

Malignant potential in intestinal juvenile polyposis syndromes

Background: Unlike familial polyposis coli, where the premalignant nature of adenomatous polyps is well established, the cancer risk in juvenile polyposis has generally been considered not increased. Methods: This study reviews all cases of juvenile polyposis reported in the English language to date to assess the occurrence and prognosis of carcinoma in the gastrointestinal tract. Results: A total of 218 patients met the inclusion criteria. Mean age at diagnosis was 18.5 years (range: 9 months to 67 years). No gender preference was identified. The most common presenting symptom was chronic anemia, followed by acute gastrointestinal bleeding, rectal prolapse of polyp, protein-losing enteropathy, and intussusception. A family history of juvenile polyposis could be established in 50% of patients, and associated congenital malformations were detected in 15%. Ninety-nine patients underwent 138 gastrointestinal operations: 121 colorectal, 12 gastric, and 5 small intestinal procedures. The development of a gastrointestinal carcinoma was reported in 36 cases (17%). Mean age at diagnosis of carcinoma was 35.5 years (range: 4–60 years). Most malignancies were located in the distal colon and rectum, with only one case of gastric and one case of duodenal carcinoma. Tumor stage at diagnosis was usually advanced, with poor survival figures. Conclusions: This study shows that juvenile polyposis syndromes carry a more significant risk of carcinoma than generally appreciated. Therefore, more intense endoscopic surveillance may be warranted, and definitive surgical options should often be considered in these syndromes.     

Results of surgical treatment for familial polyposis coli

Seventy-seven patients with polyposis coli operated on at The Mount Sinai Hospital in the last 40 years were studied. Forty-two patients had a subtotal colectomy. Sixteen were found to have colon cancer at the time of operation, and a second rectal cancer developed in 50 percent of the survivors within 1 to 13 years after subtotal colectomy. Rectal cancer subsequently developed in only 3 of 23 patients without colon cancer. Thirty-five patients had total proctocolectomy or total colectomy with mucosal proctectomy and ileoanal anastomosis. Recurrent adenomatous polyps developed in two patients after mucosal proctectomy. A villous adenoma with carcinoma in situ of the ileum developed in one patient 30 years after total proctocolectomy and ileostomy. Another patient died from a periampullary carcinoma 24 years after subtotal colectomy. It seems that as the life expectancy of patients with polyposis improves, the incidence of small bowel and duodenal cancers may be expected to increase.     

The risk of gastrointestinal carcinoma in familial juvenile polyposis

Background: Familial juvenile polyposis (JP) is an autosomal dominant condition in which affected individuals develop upper or lower gastrointestinal (GI) juvenile polyps, or both, and have a predisposition to cancer of the gastrointestinal tract. The risk of GI cancer has not been well defined because of the small number of these families and the lack of follow-up. The objective of this study was to determine the prevalence and age at diagnosis of GI polyposis and cancer in a large JP kindred. Methods: Medical records were reviewed, patients were interviewed, and histories were taken. Pathology reports and slides were reviewed by our pathologists. A database was created for analysis of clinical and pathologic factors. Results: This kindred contains 117 members, 29 of whom have had upper or lower GI polyps or cancer, or both. All those affected have had colonic juvenile polyps or cancer, except for two who died of advanced gastric cancer and never had colonic evaluation. Nine individuals have had both upper and lower GI polyps or cancer. Sixteen of 29 (55%) affected patients have developed gastrointestinal cancer. Eleven (38%) have had colon cancer, and six (21%) have had upper GI cancers. Conclusions: The risk of gastrointestinal malignancy in affected members of this JP kindred exceeds 50%. The high risk of GI cancer warrants frequent endoscopic screening of both affected and at-risk family members. Screening will soon be facilitated by presymptomatic genetic testing for the identification of gene carriers.Presented at the 51st Annual Cancer Symposium of The Society of Surgical Oncology, San Diego, California, March 26–29, 1998.     

Colonoscopic polypectomy in children.

Between January 1984 and July 1990, a total of 129 colonoscopic snare polypectomies were performed during 77 sessions on 74 patients aged 2 to 12 years. Bleeding per rectum (mean duration, 10 months) was the chief presenting symptom and was present in all of these patients. In 89% of patients polypectomy was carried out without using general anesthesia. Ninety-six percent of patients had juvenile polyps. Two patients had familial polyposis coli and one patient had a solitary adenomatous polyp. The majority (98; 80%) of the polyps were located in the rectosigmoid region. Four patients developed complications, one needing emergency operation. There were no deaths in the series. It is concluded that colonoscopic snare polypectomy is a simple, effective, and safe procedure for treating colorectal polyps in children.     

The association between thyroid neoplasia and intestinal polyps.

Recent reports have suggested an association between familial adenomatous polyposis and papillary carcinoma of the thyroid. This report describes four patients, each with intestinal polyps and thyroid or thyroglossal cyst carcinoma. One patient had a medullary rather than papillary carcinoma of the thyroid and in another the intestinal polyps were due to Peutz-Jeghers syndrome. This may indicate a wider association between thyroid carcinoma and intestinal polyps than has previously been recognised.     

多原发大肠癌67例临床分析

目的　探讨多原发大肠癌发病率、病理及临床特点、诊断及治疗方法。 方法　对６７ 例多原发大肠癌患者的临床资料进行回顾性分析。 结果　６００ 例结直肠癌中，有同时多原发癌４７ 例（７８ ％ ） ，异时多原发癌２０ 例（３３ ％ ） 。多原癌伴息肉者３１ 例（４６ ％ ） ，其中１７ 例为息肉癌变（１２ ％ ） ，本组手术根治切除５４ 例，姑息切除５ 例，造口５ 例，仅探查者３ 例。术后１０ 年生存率６２ ％ ，８ 年生存率７３ ％ ，５ 年生存率６７ ％ 。 结论　利用纤结镜作术前、后检查，术中注意仔细探查，是提高本病发现率的重要手段；首次手术彻底切除癌与癌前病变是提高术后生存率的重要因素。