Peutz-Jeghers syndrome with small intestinal malignancy and cervical carcinoma

We report a case of 30-year-old woman with Peutz- Jeghers syndrome （PJS）. Because of small intestinal obstruction, she received the small intestinal polypectomy in 2001, and the pathological diagnosis was Peutz-Jeghers polyp canceration （mucinous adenocarcinoma, infiltrating full-thickness of the intestine）. The patient did not feel uncomfortable after 6 mo of chemotherapy and other management. We kept a follow-up study on her and found that she suffered from cervical cancer in 2007, with a pathological diagnosis of cervical adenosquamous carcinoma.The patient presented with typical features of PJS, but without a family history. The PJS accompanied with both small intestinal and cervical malignancies has not been reported so far in the world.     

Peutz-Jeghers syndrome： Diagnostic and therapeutic approach

Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions.Prevalence of PJS is estimated from 1 in 8300 to 1 in 280 000 individuals.PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors).Bleeding, obstruction and intussusception are common complications in patients with PJS.Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel.Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome.Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients.Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era.Both DBE and IOE facilitate exploration and treatment of the small intestine.DBE is less invasive and more convenient for the patient.Both procedures are generally safe and useful.An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men).Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.     

Long-Term Results of Polyp Clearance by Intraoperative Enteroscopy in the Peutz-Jeghers Syndrome

PURPOSE: Enteroscopy during laparotomy for Peutz-Jeghers syndrome was introduced in our unit in 1987. Its aim is to achieve more complete polyp clearance and thereby reduce the number of subsequent laparotomies for small intestinal polyps. METHODS: All patients with Peutz-Jeghers syndrome who had undergone intraoperative enteroscopy since its introduction into our unit in 1987 were identified. The numbers of polyps identified by palpation and transillumination and by enteroscopy were recorded. The timing of, indications for, and findings of all subsequent laparotomies were analyzed and compared with data from our unit before the introduction of intraoperative enteroscopy. RESULTS: Twenty-five patients (14 females) were studied. Enteroscopy identified 350 (median 12, range 0–35) polyps not detected by palpation and transillumination. All impalpable polyps were removed endoscopically by snare or biopsy. The median follow-up was 53 (interquartile range, 13–133) months. Six patients have had an additional laparotomy (1 urgent relaparotomy for small-bowel perforation after endoscopic polypectomy, 4 polypectomies, and 1 adhesion obstruction). No patient has required operative polypectomy within 4 years of polyp clearance by intraoperative enteroscopy, compared with registry data of 4 (17 percent) of 23 patients who had more than 1 laparotomy within 1 year. CONCLUSION: Intraoperative enteroscopy for Peutz-Jeghers syndrome improves polyp clearance without the need for additional enterotomies and may help to reduce the frequency of laparotomies.     

Capsule enteroscopy in small bowel transplantation

BACKGROUND: Enteroscopy plays a key role in the post-operative monitoring of patients with small bowel transplantation for the early detection of post-transplant complications and for the assessment of the graft's integrity. Routine surveillance enteroscopies (trans-stomal terminal ileoscopy or jejunoscopy) are invasive, may be unsafe in frail patients, and only allow incomplete exploration of the transplanted graft, which may be unsatisfactory. since the distribution of the lesions is often patchy or segmental. AIMS. To evaluate the potential of capsule enteroscopy, a new, minimally invasive technique which allows complete exploration of the small bowel. in small bowel transplant recipients. METHODS: Five small bowel transplanted patients underwent capsule enteroscopy with the GIVEN endoscopy system. The results of capsule enteroscopy were compared with those of trans-stomal ileoscopy. RESULTS: Capsule enteroscopy was better tolerated than ileoscopy and good quality images of the small bowel were obtained in four patients. The terminal ileum was normal both on ileoscopy and capsule enteroscopy. Mucosal changes in segments not reached by ileoscopy were detected by capsule enteroscopy in three of four patients. CONCLUSIONS: Capsule enteroscopy is better tolerated than ileoscopy, allows complete exploration of the transplanted graft and can detect mucosal changes in segments not reached by ileoscopy.     

P-J综合征并多次肠梗阻1例报告

1例13岁患有P-J综合征的男孩,于2010年由于肠梗阻就诊于解放军252医院消化科。后于2011年4月再次因小肠梗阻就诊于解放军252医院消化科,考虑反复梗阻是由于小肠息肉所致。后就诊于北京军区总院行小肠镜检查,发现大量小肠息肉,确诊为小肠息肉引起的肠梗阻。后患者反复发作肠梗阻,行手术治疗治愈。     

螺旋管式小肠镜临床应用价值初探

目的初步评估螺旋管式小肠镜在小肠疾病诊治中的应用价值。方法对2009年7月至9月间采用经口螺旋管式小肠镜诊治的8例患者的临床资料进行总结分析,包括内镜插入深度、检查时间、并发症发生情况以及活检与治疗结果等。结果2例诊断为小肠克罗恩病,活检病理提示为活动性炎症和肉芽组织;1例诊断为小肠肿瘤,活检病理提示为高级别上皮内瘤变;1例检出空肠溃疡;1例检出空肠术后吻合口及空回肠多发息肉,并行息肉氩离子凝固术（APC）治疗;3例未发现明显异常。螺旋管式小肠镜均成功插至屈氏韧带处,最深至屈氏韧带下3．6m处,平均插入深度为屈氏韧带下2．2m;检查时间为25～77min,平均41min。术中操作与气囊式内镜相同,APC治疗未遇任何困难。未发生相关并发症。结论螺旋管式小肠镜操作简便、安全,进镜速度快,具有较高的临床应用价值。     

Comparison of double balloon enteroscopy in adults and children

AIM: To compare results of double balloon enteroscopy (DBE) procedures in pediatric and adult patients. METHODS: The medical files of patients who underwent DBE at Gazi University School of Medicine, Ankara, Turkey between 2009 and 2011 were examined retrospectively. Adult and pediatric patients were compared according to DBE indications, procedure duration, final diagnosis, and complications. DBE procedures were performed in an operating room under general anesthesia by two endoscopists. An oral or anal approach was preferred according to estimated lesion sites. Overnight fasting of at least 6 h prior to the start of the procedure was adequate for preprocedural preparation of oral DBE procedures. Bowel cleansing was performed by oral administration of sennosides A and B solution, 2 mL/kg, and anal saline laxative en-ema. The patients were followed up for 2 h after the procedure in terms of possible complications. RESULTS: DBE was performed in 35 patients (5 pediatric and 30 adult). DBE procedures were performed for abdominal pain, chronic diarrhea, bleeding, chronic vomiting, anemia, and postoperative evaluation of anastomosis. Final diagnosis was diffuse gastric angiodysplasia (n = 1); diffuse jejunal angiodysplasia (n = 1); ulceration in the bulbus (n = 1); celiac disease (n = 1); low differentiated metastatic carcinoma (n = 1); PeutzJeghers syndrome (n = 1); adenomatous polyp (n = 1) and stricture formation in anastomosis line (n = 1). During postprocedural follow-up, abdominal pain and elevated amylase levels were noted in three patients and one patient developed abdominal perforation. CONCLUSION: With the help of technological improvements, we may use enteroscopy as a safe modality more frequently in younger and smaller children.     

Peutz-Jeghers syndrome: endoscopic detection and treatment of small bowel polyps by double-balloon enteroscopy

INTRODUCTION: Peutz-Jeghers syndrome (PJS) is characterised by a combination of hamartomatous gastrointestinal polyps and mucocutaneous melanin pigmentation. The polyps occur mainly in the small bowel and can lead to intestinal obstruction, intussusception and bleeding. Until only a few years ago, primary surgical resection and intraoperative endoscopy and polypectomy were the only available means of treating polyps in the mid-small bowel in these patients. With the introduction of double-balloon enteroscopy (DBE), we now have not only an improved diagnostic tool but also a non-surgical treatment option. METHODS: Between March 2003 and September 2006 a total of 16 patients with PJS were examined by DBE and treated endoscopically. The size, number and location of the diagnosed and endoscopically resected small-bowel polyps were documented as were all complications associated with the examination or treatment. RESULTS: A total of 47 DBE-procedures were performed (oral approach 39, anal approach 8). The examinations revealed a total of 178 polyps. 47 polyps were removed by endoscopic polypectomy on the grounds of their size and/or gross appearance. The largest small-bowel polyp resected was 50 mm (min. 15 mm, max. 50 mm). A total of four complications occurred (2 episodes of bleeding with a fall in Hb, 1 perforation, 1 propofol-associated decrease in oxygen saturation). CONCLUSION: DBE is a safe and reliable procedure for the diagnosis of small-bowel polyps in patients with PJS. In addition to macroscopic assessment and biopsy of suspicious areas, it permits the exact localisation as well as preoperative marking of polyps that are primary candidates for surgery. DBE revolutionises the therapeutic options for polyps in the region of the mid-small bowel and limits the indications for primary surgical management.     

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.     

黑斑息肉综合征的家系调查研究

目的 探讨黑斑息肉综合征(PJS)的临床特点及其家系调查的意义.方法对15例先证者及其高危亲属的一般资料、临床表现,以及消化道外的表现和内镜下表现进行调查观察,如确诊PJS,经内镜或外科治疗后,每年至少复查1次胃镜、结肠镜、全消化道钡餐及腹部B超、X线胸片.结果普查PJS患者亲属共63例,发现PJS患者34例.新发现的患者均有黑斑,其中伴有其他症状者18例,有5例患者合并恶性肿瘤,包括胃腺癌、小肠腺癌、大肠腺癌、官颈腺癌、左颈部淋巴结腺癌各1例.结论黑斑息肉综合征的部分患者早期临床表现无特异性,部分患者易出现恶变.对PJS患者及其亲属进行定期联系及普查,有利于对恶性肿瘤进行早期诊断和治疗.     

Rectal carcinoid tumor associated with the Peutz-Jeghers syndrome

A 16-year-old man who had been diagnosed with the Peutz-Jeghers syndrome at the age of 8 years presented with crampy abdominal pain. Thorough examinations revealed a large jejunal polyp causing intussusception, as well as multiple polyps in the small and large intestines. Preoperative proctoscopy demonstrated the coexistence of a submucosal tumor in the rectum. Proctoscopic mucosal resection was performed and histological and immunohistochemical examinations led to a diagnosis of carcinoid tumor. Additional transanal resection of the rectal wall showed no residual tumor and the patient has been well for 2 years to date. Although malignant tumors are increasingly reported in association with the Peutz-Jeghers syndrome, to our knowledge, there have been no previous reports of such an association in the English-language and Japanese literature. Received Jan. 21, 1998; accepted Mar. 27, 1998     

Peutz—Jeghers综合征中表达及临床意义Brgl蛋白的

目的探讨Peutz—Jeghers综合征（PJS）中Brgl蛋白的表达及其在PJS息肉发展过程中的作用。方法应用免疫组化法检测Brgl蛋白在72例PJS息肉组织、12例正常小肠黏膜组织、30例小肠癌组织中的表达,并探讨其与PJs息肉发生、发展及癌变的关系。结果Brgl蛋自在小肠癌组中的阳性表达率为76．67％,PJS息肉组织为54．17％,正常小肠黏膜组织为16．67％;PJS息肉组和正常小肠黏膜组Brgl蛋白阳性表达差异有统计学意义（P〈0．05）;PJS息肉组和小肠癌组Brgl蛋白阳性表达差异有统计学意义（P〈0．05）。结论Brgl蛋自在小肠癌组织中存在过高表达,在PJS息肉组织中存在高表达,且可能是PJS息肉癌变的关键因子之一。     

Small bowel polyps in Peutz-Jeghers syndrome: management by combined push enteroscopy and intraoperative enteroscopy

BACKGROUND: Polyps occur throughout the GI tract in Peutz-Jeghers syndrome; the major problem in the management of the syndrome lies in the small bowel. METHODS: From January 1979 to January 1998, seven patients with Peutz-Jeghers syndrome underwent surveillance. Between 1979 and 1992 they were managed with upper and lower endoscopy every 2 to 3 years and surgery when intestinal obstruction occurred. From 1993 they also underwent enteroclysis and, on the basis of radiologic findings, push enteroscopy and/or intraoperative enteroscopy. Push enteroscopy was then performed every 2 years in all patients. RESULTS: During the first period, 5 of 7 patients underwent emergency small bowel resection (2 operated twice). The patients were divided into 2 groups based on enteroclysis findings; the first comprised 4 patients with multiple polyps throughout the small bowel, and the second included 3 patients with polyps only in the proximal small bowel. Three of the 4 patients with diffuse polyposis underwent intraoperative enteroscopy during which on average 16 polyps per patient were removed (range 10 to 25 polyps; mean diameter 16 mm, range 3 to 50 mm). The remaining patient with diffuse polyposis had a single 25 mm polyp in the terminal ileum removed by retrograde ileoscopy; the more proximal polyps were removed by push enteroscopy. The patients with diffuse polyposis remained asymptomatic during follow-up (mean 50 months, range 47 to 57 months) and also underwent periodic push enteroscopy (mean 2.25 enteroscopies per patient, range 2 to 3) at which a mean of 8.5 polyps per patient (range 4 to 13 polyps) were removed (mean diameter 7.2 mm, range 3 to 15 mm). The 3 patients of the second group underwent periodic push enteroscopy alone (mean 3 per patient) during which a mean of 11.7 polyps per patient were removed (range 7 to 15 polyps: mean diameter 10.9 mm, range 3 to 40 mm). Enteroclysis was not repeated in these patients, who remained asymptomatic during follow-up (mean 47 months, range 46 to 48 months). CONCLUSIONS: More effective clearance of small bowel polyps via enteroscopy will help reduce the need for emergency surgery with extensive intestinal resection in patients with Peutz-Jeghers syndrome.