Peutz–Jeghers syndrome: case reports and update on diagnosis and treatment

OBJECTIVE: To analyze the etiology and diagnostic methods of Peutz–Jeghers syndrome (PJS) and thus establish a treatment strategy. METHODS: Clinical data from six patients with PJS were evaluated from the aspect of familial history, carcinogenesis and recurrence of polyps. RESULTS: The fathers of four and the mother of one of the six patients had PJS. The grandfather of three of the six patients had PJS. There was a history of cancer in three of the five families. Case 4 underwent two laparotomies for intussusceptions caused by recurrent polyps of the small intestine. Case 5 also had recurrent small intestinal polyps and required a laparotomy after 1 year of initial treatment. Polyps in cases 1 and 4 showed adenomatous changes and those in case 2 were associated with gastric cancer. CONCLUSIONS: Patients with PJS have a strong family history of cancer and a high incidence of recurrence of small intestinal polyps. Malignant changes of polyps may follow the hamartoma–adenoma–carcinoma sequence. Careful follow‐up is mandatory for gastrointestinal tract symptoms, and other solid organs that are susceptible to malignant change.     

An Incidentally Discovered Asymptomatic Para-Aortic Paraganglioma with Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by mucocutaneous melanin pigmentation and gastrointestinal (GI) tract hamartomatous polyps and an increased risk of malignancy. In addition to polyposis, previous studies have reported increased risk of GI and extraGI malignancies in PJS patients, compared with that of the general population. The most common extraintestinal malignancies reported in previous studies are pancreatic, breast, ovarian and testicular cancers.We report the case of a 17-year-old boy who presented with generalized weakness, recurrent sharp abdominal pain and melena, had exploratory laparotomy and ileal resection for ileo-ileal intussusception. Pigmentation of the buccal mucosa was noted. An abdominal computed tomography scan (CT) revealed multiple polyps in small bowel loops. Gastroscopy revealed multiple dimunitive polyps in stomach and pedunculated polyp in duodenum. Colonoscopy revealed multiple colonic polyps. Pathological examination of the polyps confirmed hamartomas with smooth muscle arborization, compatible with Peutz-Jeghers polyps. CT scan guided left para-aortic lymph node biopsy revealed the characteristic features of extra-adrenal para-aortic paraganglioma. Although cases of various GI and extra GI malignancies in PJS patients has been reported, the present case appears to be the first in literature in which the PJS syndrome was associated with asymptomatic extraadrenal para-aortic paraganglioma. Patients with PJS should be treated by endoscopic or surgical resection and need whole-body screening.     

Current practices and future prospects for the management of gallbladder polyps: A topical review

A gallbladder polyp is an elevation of the gallbladder mucosa that protrudes into the gallbladder lumen. Gallbladder polyps have an estimated prevalence in adults of between 0.3%-12.3%. However, only 5% of polyps are considered to be "true" gallbladder polyps, meaning that they are malignant or have malignant potential. The main radiological modality used for diagnosing and surveilling gallbladder polyps is transabdominal ultrasonography. However, evidence shows that other modalities such as endoscopic ultrasound may improve diagnostic accuracy. These are discussed in turn during the course of this review. Current guidelines recommend cholecystectomy for gallbladder polyps sized 10 mm and greater, although this threshold is lowered when other risk factors are identified. The evidence behind this practice is relatively low quality. This review identifies current gaps in the available evidence and highlights the necessity for further research to enable better decision making regarding which patients should undergo cholecystectomy, and/or radiological follow-up.     

Clinical Features and Outcomes of Gallbladder Polyps in Children

Background:Gallbladder polyps are rare lesions protruding into the gallbladder lumen with variable clinical presentation. No standard treatment algorithm has been developed for pediatric gallbladders, and the malignant potential of the gallbladder is not clear in children. Therefore, a retrospective study was performed to evaluate the clinical features and treatment options of gallbladder polyps in children.Methods:Between 2014 and 2020, children diagnosed with gallbladder polyps were evaluated for age, gender, clinical features, results of follow-up with ultrasound findings, and treatment options retrospectively.Results:The records of 15 patients with a mean age of 13.2 years (2-20 years) were included. The male: female ratio was 7 : 8. Gallbladder polyps was detected incidentally in 73.3% (n = 11) of the patients. Four (20%) of the patients were symptomatic (26.7%) and complained about abdominal pain. Laboratory tests were normal except in 3 patients who showed slightly increased liver function tests. Two of the patients had 3 polyps on admission. The polyps were 2-10 mm in size. The size of the polyp increased in 5 patients (33.3%) and disappeared in 4 patients (26.6%) in follow-up ultrasound examinations. Five of the patients underwent cholecystectomy and 1 of them was scheduled for surgery. Five of the asymptomatic patients who have polyps less than 10 mm in size are still on follow-up. In patients with cholecystectomy, the histopathology of gallbladders revealed cholesterol polyps (n = 2) and hyperplastic polyps (n = 2). One of the patients with cholecystectomy showed no polyps in histopathological evaluation.Conclusion: Despite the lack of a standardized algorithm, our data suggested that multiple polyps, polyps with increased in size or greater than 10 mm, and the presence of symptoms might require cholecystectomy in children. Asymptomatic patients with small-sized polyps can be identified using ultrasound, and the polyps may disappear during the subsequent follow-up.     

Update on imaging of Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disease linked to a mutation of the STK 11 gene and is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract in association with a hyperpigmentation on the lips and oral mucosa. Patients affected by PJS have an increased risk of developing gastrointestinal and extra-digestive cancer. Malignancy most commonly occurs in the small-bowel. Extra-intestinal malignancies are mostly breast cancer and gynecological tumors or, to a lesser extent, pancreatic cancer. These polyps are also at risk of acute gastrointestinal bleeding, intussusception and bowel obstruction. Recent guidelines recommend regular small-bowel surveillance to reduce these risks associated with PJS. Small-bowel surveillance allows for the detection of large polyps and the further referral of selected PJS patients for endoscopic enteroscopy or surgery. Video capsule endoscopy, double balloon pushed enteroscopy, multidetector computed tomography and magnetic resonance enteroclysis or enterography, all of which are relatively new techniques, have an important role in the management of patients suffering from PJS. This review illustrates the pathological, clinical and imaging features of small-bowel abnormalities as well as the role and performance of the most recent imaging modalities for the detection and follow-up of PJS patients.     

胆囊息肉样病变直径对判断息肉性质的价值分析*

目的 探讨胆囊息肉直径对判断息肉性质的价值。方法 2010年1月～2019年3月我科诊治的胆囊息肉患者420例,接受开放或腹腔镜胆囊切除术治疗。采用多因素Logistic回归分析胆囊癌发生的危险因素,绘制受试者工作特征曲线(ROC曲线),计算不同胆囊息肉直径预测息肉恶变的曲线下面积(AUC)、敏感性和特异性。结果 经术后组织病理学检查,诊断良性胆囊息肉388例,恶性胆囊息肉32例;良性胆囊息肉患者年龄为(46.6±8.7)岁,显著小于恶性胆囊息肉患者;良性胆囊息肉直径为6(2,27)mm,显著小于恶性胆囊息肉直径;良恶性息肉患者性别构成、胆囊息肉数目、胆囊结石、癌胚抗原、CA19-9和空腹血糖等均无显著性统计学差异(P>0.05);经多因素分析,发现胆囊息肉直径是胆囊癌发生的独立危险因素(P<0.05,OR=1.52,95%CI:1.36～1.69);绘制胆囊息肉直径ROC曲线,得出AUC为0.89(0.85～0.93),即当息肉直径为13 mm时,诊断胆囊癌的敏感性和特异性分别为91.0%和71.8%。结论 胆囊息肉直径预测胆囊癌的价值较高,当息肉直径>13 mm时,因恶变风险增大,建议手术治疗。     

Laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis for Peutz-Jeghers syndrome with synchronous rectal cancer

We report on a patient diagnosed with PeutzJeghers syndrome(PJS) with synchronous rectal cancer who was treated with laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis(IPAA). PJS is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation, and increased risks of gastrointestinal and nongastrointestinal cancer. This report presents a patient with a 20-year history of intermittent bloody stool, mucocutaneous pigmentation and a family history of PJS, which together led to a diagnosis of PJS. Moreover, colonoscopy and biopsy revealed the presence of multiple serried giant pedunculated polyps and rectal adenocarcinoma. Currently, few options exist for the therapeutic management of PJS with synchronous rectal cancer. For this case, we adopted an unconventional surgical strategy and ultimately performed laparoscopic restorative proctocolectomy with IPAA. This procedure is widely considered to be the first-line treatment option for patients with ulcerative colitis or familial adenomatous polyposis. However, there are no previous reports of treating PJS patients with laparoscopic IPAA. Since the operation, the patient has experienced no further episodes of gastrointestinal bleeding and has demonstrated satisfactory bowel control. Laparoscopic restorative proctocolectomy with IPAA may be a safe and effective treatment for patients with PJS with synchronous rectal cancer.     

Conservative approach in Peutz-Jeghers syndrome: Single-balloon enteroscopy and small bowel polypectomy

AIM: To assess the usefulness of the balloon assisted enteroscopy in preventing surgical intervention in pa-tients with Peutz-Jeghers syndrome (PJS) having a small bowel large polyps. METHODS: Seven consecutive asymptomatic pts(age 15-38 years) with PJS have been collected; six under-went polypectomy using single balloon enteroscopy(Olympus SIF Q180) with antegrade approach using push and pull technique. SBE system consists of the SIF-Q180 enteroscope, an overtube balloon control unit(OBCU Olympus Balloon Control Unit) and a dispos-able silicone splinting tube with balloon(ST-SB1). All procedures were performed under general anesthesia. Previously all pts received wireless capsule endos-copy(WCE). Prophylactic polypectomy was reservedmainly in pts who had polyps 15 mm in diameter. The balloon is inflated and deflated by a balloon control unit with a safety pressure setting range from-6.0 kPa to +5.4 kPa. Informed consent has been obtained from pts or parents for each procedure.RESULTS: Six pts underwent polypectomy of small bowel polyps; in 5 pts a large polyp 15 mm(range 20-50 mm in diameter) was resected; in 1 patient with WCE negative, SBE was performed for previous surgi-cal resection of gastrointestinal stromal tumors. In 2 pts endoscopic clips were placed due to a polypectomy. No surgical complication have been reported. SBE with resection of small bowel large polyps in PJS pts was useful to avoid gastrointestinal bleeding and emergency laparotomy due to intestinal intussuscep-tions. No gastrointestinal tumors were found in sub-sequent enteroscopic surveillance in all seven pts. In order surveillance, all pts received WCE, upper en-doscopy, ileocolonoscopy every 2 years. No pts had extraintestinal malignant lesions. SBE was performed when WCE was positive for significant polyps( 15 mm).CONCLUSION: The effective of prophylactic polyp-ectomy of small bowel large polyps( 15 mm) could be the first line treatment for conservative approach in management of PJS patients.     

Peutz-Jeghers综合征的诊治进展和预防性治疗

Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)以皮肤黏膜色素斑、胃肠道错构瘤息肉和遗传性为临床特征.PJS胃肠道息肉可产生梗阻、出血、套叠、恶变等严重并发症,目前其临床治疗以手术和内镜治疗为主,其中双气囊电子小肠镜对于PJS胃肠道息肉的诊断和治疗具有重要的临床意义.随着转化医学...     

Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management

AIM: To explore mutations in serine/threonine kinase 11 (STK11) gene in Peutz-Jeghers syndrome (PJS) with gastrointestinal (GI) hamartomatous polyps.METHODS: Six Japanese PJS patients in 3 families were enrolled in this study. Each of the cases had hamartomatous polyposis in the gastrointestinal tract, including the small intestine, along with mucocutaneous hyperpigmentation. Narrow-band imaging (NBI)-magnification endoscopy was employed to detect microvascular and microsurface irregularities in the GI lesions. NBI magnification findings could be classified into three groups (type A, type B, or type C). Endoscopic polypectomy was performed using double-balloon enteroscopy or colonoscopy. Genomic DNA was extracted from a whole blood sample from each subject. All of the coding exons of STK11 gene, its boundary regions, and the promoter region containing the polymorphic regions were amplified by polymerase chain reaction, and direct sequencing was performed to assess the germline mutations.RESULTS: NBI-magnification endoscopic observation could detect the abnormalities in microvessels and microsurface structures of GI polyps. Overall, we found 5 cases of type A and one case without the examination for the gastric polyps, while there were 4 cases of type B and 2 case of type A for the colorectal polyps. Seventy-nine small-bowel and 115 colorectal polyps over 27 sessions for each were resected endoscopically without significant complications. The only delayed complication included the occurrence of bleeding in a case, and this was successfully managed with hemoclips. Resected polyps contained no malignant components. Based on mutation analysis, all 3 cases in Family I exhibited the +658C>T nonsense mutation in exon 5, which resulted in the production of a truncated protein (Q220X). In Family II, a case had -252C>A and -193C>A in the promoter region. In Family III, a case was found to have the +1062C>G (F342L) mutation in exon 8.CONCLUSION: We found two novel mutations of STK11 in association with PJS. Endoscopic polypectomy of GI polyps in PJS patients appears to be useful to prevent emergency laparotomies and reduce the cancer risk.     

Clinical relevance of gallbladder polyps; is cholecystectomy always necessary?

BackgroundGallbladder polyps are common incidental findings during abdominal ultrasonography. Cholecystectomy is recommended for polyps equal or greater than 10 mm on ultrasound due to their malignant potential. However, the majority of lesions appear to be pseudopolyps with no malignant potential. Our aim was to determine the correlation between ultrasonographic findings and histopathological findings after cholecystectomy for gallbladder polyps in two institutions.MethodA retrospective analysis was performed at two Dutch institutions of patients who underwent cholecystectomy. All cholecystectomies for suspected gallbladder polyps between January 2010 and August 2017 were included. Ultrasonographic and histopathological reports were analyzed.ResultsA total of 108 patients underwent cholecystectomy for gallbladder polyps. At abdominal ultrasound sixty-five patients (60.2%) were diagnosed with multiple gallbladder polyps. The mean diameter of the polyps was 11 mm. On pathological examination after cholecystectomy, only three specimens harbored true polyps. No anomalies were found in 48 (44%) patients and 51 (47%) had cholesterolosis.ConclusionThe prevalence of true gallbladder polyps was much lower in this study than reported in literature. After cholecystectomy for gallbladder polyps diagnosed by ultrasound, 97% of patients had non-neoplastic or not identifiable lesions in the gallbladder. These findings question the usefulness of current guidelines for management of suspected gallbladder polyps.     

内镜下黏膜切除术治疗Peutz-Jeghers巨大十二指肠息肉71例临床研究北大核心CSCD

目的评估内镜下黏膜切除术(EMR)治疗Peutz-Jeghers综合征(PJS)巨大十二指肠息肉的安全性及有效性。方法收集2013年2月至2020年8月在空军特色医学中心确诊为PJS十二指肠息肉并经EMR治疗的病例资料,统计EMR治疗PJS十二指肠巨大息肉的完整切除率、并发症发生率。比较巨大息肉组(直径≥3 cm)与普通息肉组(直径<3 cm)患者EMR手术完整切除率和并发症发生情况,并分析EMR治疗PJS十二指肠息肉手术并发症发生的影响因素。结果共71例患者纳入研究,男44例,女27例,中位年龄为26岁(5~58岁)。内镜下切除息肉最大中位直径为2.0 cm(0.6~13.0 cm),所有患者均成功实施EMR手术,63例患者EMR治疗PJS十二指肠息肉实现完整切除(63/71,88.7%),巨大息肉组EMR手术完整切除率低于普通息肉组(77.4%比97.5%),差异有统计学意义(P=0.023)。EMR手术相关并发症总发生率5.6%(4/71),1例患者同时存在术中创面渗血和术后胰腺炎。巨大息肉组与普通息肉组间并发症发生率(9.7%比2.5%)差异无统计学意义(P>0.05)。内镜下EMR切除十二指肠息肉有无并发症发生在患者性别、年龄、有无PJS家族史、手术史、息肉数量、切除方式上的差异均无统计学意义(P值均>0.05),而息肉位于乳头部位者并发症发生率(50%,3/6)显著高于非乳头部位者(1.5%,1/65),差异有统计学意义(P=0.001)。结论EMR治疗PJS巨大十二指肠息肉总体安全有效的,可作为PJS十二指肠息肉的首选治疗方案。息肉部位是EMR手术相关并发症发生的重要影响因素。     

小切口开腹术中内镜治疗 Peutz-Jeghers 综合征患者小肠息肉——附7例分析

背景: Peutz-Jeghers综合征(PJS)患者的小肠多发息肉可引起出血、肠梗阻、肠套叠、息肉恶变等严重并发症,传统外科手术治疗创伤大、术后并发症多,且多次小肠切除术可致短肠综合征。目前关于小切口开腹术中内镜治疗PJS患者小肠息肉的报道较少。目的: 探讨小切口开腹术中内镜治疗PJS患者小肠多发息肉的疗效和可能优势。方法: 回顾性分析南通市第一人民医院1998年9月～2008年10月7例接受小切口开腹术中内镜治疗的PJS患者的息肉切除情况、手术相关并发症和长期随访结果。结果: 7例PJS患者术中共切除929枚小肠息肉,直径≤10mm 492枚,11～30mm 377枚,≥30mm 60枚,最大者45mm×38mm。术后2例患者分别出现肠功能障碍和少量便血,1例术后1年内腹部偶有隐痛不适,经治疗后均好转,无严重并发症和死亡病例。随访1～8年,无患者出现需考虑外科手术治疗的病情变化。结论: 小切口开腹术中内镜治疗能安全有效地切除小肠多发息肉,可反复治疗而无须切除肠段,对PJS患者具有重要临床应用价值。     

Peutz-Jeghers综合征预防性治疗的研究

Peutz-Jeghers综合征(PJS)又称黑斑息肉病,以皮肤黏膜色素斑、消化道错构瘤息肉和遗传性为临床特征。PJS消化道息肉可产生梗阻、出血、套叠、恶变等严重并发症;目前其临床治疗以手术和内镜治疗为主,都是局部、被动的治疗手段,而无法达到预防息肉发生发展的作用。随着针对PJS的转化医学的进步,针对细胞信号通路及其关键酶的分子靶向药物使PJS消化道息肉的预防性治疗成为可能,其代表是环氧合酶-2的选择性抑制剂和哺乳动物雷帕霉素靶蛋白抑制剂。而以"济生乌梅丸"为代表的中药也为PJS息肉的预防性治疗提供另一个选择。本文总结近年来国内外学者在PJS研究中所取得的共识与进展的基础上,结合自身临床诊治经验,提出了中西医结合预防性治疗PJS胃肠道息肉的思路和方法。以提高临床医生对PJS胃肠道息肉的诊治能力,从而使PJS患者能得到最大的临床获益。     

Course and follow-up of solitary Peutz-Jeghers polyps: a case series

BACKGROUND AND AIMS: Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disease characterized by hamartomatous polyps of the alimentary tract, hyperpigmentation of the skin, and family history of PJS. Rarely, solitary Peutz-Jeghers polyps (PJP) arise in patients without other features of PJS. PATIENTS AND METHODS: We reviewed eight patients since 1979 with solitary PJP, six men and two women. RESULTS: The average age at diagnosis was higher (56+/-13 years) than that of PJS patients in the literature. Polyps were found in the sigmoid colon ( n=4), cecum ( n=1), stomach ( n=1), and duodenum ( n=2). The colonic polyps were diagnosed and removed endoscopically. Indications for colonoscopy included routine screening ( n=4) or rectal bleeding ( n=1). The duodenal and gastric polyps were diagnosed and removed during gastroduodenoscopic examinations, which were performed for nonspecific dyspepsia ( n=2) or gastrointestinal bleeding ( n=1). The median size was 20 mm (range 2 mm-25 mm). Patients were followed for a median of 11.5 years (range 3-22) without another PJP or cancer. Three patients died of causes unrelated to PJP. Five patients are alive and polyp free. CONCLUSION: Solitary PJP do not carry a risk of gastrointestinal cancer and are not an indication for specific high-risk screening.     

Mucosal prolapse in the pathogenesis of Peutz-Jeghers polyposis

Germline mutations in LKB1 cause the rare cancer prone disorder Peutz-Jeghers syndrome (PJS). Gastrointestinal hamartomatous polyps constitute the major phenotypic trait in PJS. Hamartomatous polyps arising in PJS patients are generally considered to lack premalignant potential although rare neoplastic changes in these polyps and an increased gastrointestinal cancer risk in PJS are well documented. These conflicting observations are resolved in the current hypothesis by providing a unifying explanation for these contrasting features of PJS polyposis. We postulate that a genetic predisposition to epithelial prolapse underlies the formation of the polyps associated with PJS. Conventional sporadic adenomas arising in PJS patients will similarly show mucosal prolapse and carry the associated histological features.     

腹腔镜保胆取石术和息肉切除术临床分析53例

目的:探讨腹腔镜下保胆取石和取息肉的手术适应证、方法和疗效.方法:2009-01/2011-09我们完成了53例腹腔镜下保胆取石和取息肉术.单纯胆囊结石患者39例,其中12例为单发结石,27例为多发胆囊结石;胆囊息肉患者8例,其中3例为腺瘤性息肉,5例为胆固醇性息肉;胆囊结石合并息肉患者6例,均为胆固醇性息肉;胆囊结石合并肝硬化2例,合并肝癌1例;胆囊结石伴急性胆囊炎3例.39例结石患者中37例行胆囊底部切开取石,2例行胆囊颈部切开取石成形术;8例胆囊息肉患者中5例胆固醇性息肉行胆囊底部切开取息肉术,3例腺瘤性息肉患者行息肉周围胆囊部分切除术;6例胆囊结石合并息肉的患者均行胆囊底部切开取石(息肉)术,其息肉均为胆固醇性息肉.胆囊切口采用4-0prolene缝线连续缝合10例,采用3-0可吸收线间断缝合或连续缝合43例.术中使用胆道镜33例,20例未用胆道镜,用腹腔镜代替胆道镜查看胆囊内结石或息肉是否取净.术后放置腹腔引流管19例,其余均未放置腹腔引流管.胆囊结石(包括合并胆囊息肉)患者术后服用利胆药物者33例,服药时间为1wk-1mo不等,另12例未服利胆药物.结果:53例保胆患者手术均获成功,没有1例中转剖腹手术.手术时间80-200min,平均109min±33min.1例颈部切开取石患者术后出现上腹疼痛,腹腔引流管每日引出约15mL淡黄色腹水,超声检查显示小网膜腔少量积液,考虑少量胆漏所致,术后5d腹痛缓解,腹腔引流管无液体引出,拔除腹腔引流管后无不适.其余患者术后均恢复顺利,术后住院2-10d,平均3.8d±2.2d,均治愈出院.所有患者均获随访,随访时间3-36mo,1例患者术后12mo胆囊泥沙样结石复发,给予利胆排石药物治疗1mo后复查腹部超声显示胆囊结石消失.结论:腹腔镜下保胆取石和取息肉术保留了胆囊及胆囊功能,有利于维护患者消化系统的正常功能.只要胆囊大小基本正常、胆囊壁增厚不明显、胆囊功能基本正常,排除了胆囊恶性病变,并且患者及家属保胆愿望强烈,均可进行腹腔镜保胆取石(息肉)术.     

Endoscopic treatment of colorectal benign-appearing lesions 3 cm or larger

PURPOSE: Colonoscopic polypectomy is the preferred technique to remove the majority of polyps. The authors evaluate feasibility, safety, and the effectiveness of endoscopic treatment of colorectal benign-appearing polyps equal to or larger than 3 cm. METHODS: Ninety-seven patients with 104 giant polyps underwent polypectomy within a nine-year period. The majority of these procedures were performed on an outpatient basis, all on unsedated patients. Gross appearance, size, location, histologic characteristics, synchronous lesions, modality, and adequacy of removal of giant polyps were analyzed. The follow-up was achieved in 89 percent of patients during a period ranging from 6 to 96 months (median, 38). RESULTS: Of the 104 removed polyps, 75 (72 percent) were adenomatous, 2 (2 percent) were hyperplastic, and 27 (26 percent) were malignant polyps. Six patients had more than one giant polyp. Several additional smaller polyps were found in 52 patients and a synchronous cancer in 4. Twenty-one (20 percent) giant polyps were equal to or larger than 4 cm. Forty-nine were pedunculated, 20 were short-stalked, and 35 were sessile. Sixty-one polyps were excised in one piece, and forty-three were excised using a piecemeal technique. Only four complications (3.8 percent) were recorded; all cases were treated endoscopically. Fifty-eight (75 percent) adenomas and eighteen (67 percent) malignant polyps were completely excised. Surgery was performed in 7 of 27 patients (27 percent) with malignant polyps, where there was a doubtful, infiltrated margin or poorly differentiated cancer. Post-polypectomy surveillance permitted the detection and treatment of 25 metachronous or recurrent polyps and a metachronous cancer. CONCLUSIONS: This study shows that polypectomy of giant colorectal polyps, performed by an expert endoscopist, is feasible, effective, and safe, even on an outpatient basis. The authors confirm that malignant polyps with incomplete excision, lymphovascular invasion, and poor differentiation require bowel resection. Post-polypectomy surveillance is useful for all patients who have undergone colonoscopic resection of giant adenomatous or malignant polyps.Supported by the University of Parma, Parma, Italy.     

Cronkhite—Canada syndrome associated with perianal condyloma acuminatum with malignant transformation: A case report

Rationale:Cronkhite-Canada syndrome (CCS) is a rare non-familial polyposis syndrome characterized by multiple gastrointestinal polyps with the ectodermal triad. To date, many complications of CCS have been reported in the literature, but perianal condyloma acuminatum with malignant transformation has not been included.Patient concerns:This report presents the case of a 52-year-old Chinese man who presented with diarrhea, loss of appetite, and weight loss. He developed skin pigmentation and atrophy of the fingernails and toenails. Upper gastrointestinal endoscopy, colonoscopy, capsule endoscopy, and enteroscopy revealed diffuse polyps along the entire digestive tract. Histopathological examination revealed polyps of different pathological types dominated by hamartoma. Physical examination revealed a crissum cauliflower-like neoplasm (2.5 × 2.0 cm). After perianal tumor resection, pathology suggested that this was a perianal condylomatous lesion with malignant transformation, as well as well-differentiated squamous cell carcinoma.Diagnoses:These clinical features and endoscopic findings were consistent with CCS which associated with perianal condyloma acuminatum with malignant transformation.Intervention:Clinical remission was achieved with glucocorticoid, azathioprine, and nutritional support.Outcome:At the 4-year follow-up, the patient had no diarrhea or loss of appetite, had gained 13 kg in weight, and the perianal tumor had not recurred.Lessons:No previous report has described CCS in a patient with perianal condyloma acuminatum with malignant transformation. As both conditions are related to immune disorders, their occurrence may be correlated.     

Peutz-Jeghers polyps, dysplasia, and K-ras codon 12 mutations

Background—Peutz-Jeghers syndrome (PJS) is a rare,autosomal dominant, polyposis syndrome, associated with an increasedrisk of gastrointestinal and extragastrointestinal malignancy.Occasionally dysplasia occurs in PJS polyps.
Aims—In colorectal carcinomas, mutations in codon12 of the K-ras oncogene are common and are found atsimilar frequency in precursor adenomas. Therefore, K-rascodon 12 point mutations in PJS polyps were evaluated.
Materials and methods—Fifty two PJS polyps,including four with dysplasia, collected from 19 patients with PJS,were analysed for mutations in the K-ras codon 12 by amutant enriched polymerase chain reaction procedure, followed by allelespecific oligodeoxynucleotide hybridisation.
Results—A K-ras codon 12 mutation wasidentified in one colonic polyp with dysplasia. The mutation was foundin the non-neoplastic epithelial cells and not in the dysplasticcomponent of the polyp.
Conclusions—K-ras codon 12 pointmutations are very rare in PJS polyps, by contrast with colorectaladenomas. The findings support previous evidence that there seems to beno intrinsic relation between K-ras codon 12 mutation and dysplasia.

Keywords:Peutz-Jeghers syndrome; polyps; dysplasia; K-ras codon 12 mutations