家族性腺瘤性息肉病的外科治疗

为了提高家族性腺瘤性息肉病（ＦＡＰ）的外科治疗效果，对１６例ＦＡＰ患者的外科治疗情况进行了回顾性总结。１６例中除１例行全结肠直肠切除、回肠造口外，其余１５例均行全结肠直肠切除、回肠贮袋肛管吻合术。贮袋式中Ｊ型３例、Ｈ型１例，Ｓ型１１例，术后全部患者获１～５年随访，随访结果表明，病人排便功能均较满意，其中以Ｓ型贮袋者为好。笔者认为全结肠直肠切除是治疗ＦＡＰ唯一彻底有效的方法，而回肠贮袋肛管吻合则是减少术后排便次数、提高术后生活质量的良好术式，并讨论了手术方式的选择。

Risk of colorectal neoplasm in patients with acromegaly: A meta-analysis

AIM: To examine the risk of colorectal neoplasm in acromegalic patients by meta-analyzing all relevant controlled studies. METHODS: Extensive English language medical literature searches for human studies, up to December 2007, were performed using suitable keywords. Pooled estimates [odds ratio (OR) with 95% confidence intervals (CI)] were obtained using either the fixed or random-effects model as appropriate. Heterogeneity between studies was evaluated with the Cochran Q test whereas the likelihood of publication bias was assessed by constructing funnel plots. Their symmetry was estimated by the adjusted rank correlation test. RESULTS: For hyperplastic polyps the pooled ORs with 95% CI were 3.557 (2.587-4.891) by fixed effects model and 3.703 (2.565-5.347) by random effects model. The Z test values for overall effect were 7.81 and 6.984, respectively (P < 0.0001). For colon adenomas the pooled ORs with 95% CI were 2.486 (1.908-3.238) (fixed effects model) and 2.537 (1.914-3.364) (random effects model). The Z test values were 6.747 and 6.472, respectively (P < 0.0001). For colon cancer the pooled OR with 95% CI was identical for both fixed and random effects model (OR, 4.351; 95% CI, 1.533-12.354; Z = 2.762, P = 0.006]. There was no significant heterogeneity and no publication bias in all the above meta-analyses. CONCLUSION: Acromegaly is associated with an increased risk of colorectal neoplasm.

Hereditary non-polyposis colorectal cancer: The rise and fall of a confusing term

The term Hereditary Non-Polyposis Colorectal Cancer （HNPCC） is a poor descriptor of the syndrome described by Lynch. Over the last decade, the term has been applied to heterogeneous groups of families meeting limited clinical criteria, for example the Amsterdam criteria. It is now apparent that not all Amsterdam criteria-positive families have the Lynch syndrome. The term HNPCC has also been applied to clinical scenarios in which CRCs with DNA microsateUite instability are diagnosed but in which there is no vertical transmission of an altered DNA mismatch repair （MMR） gene. A term that has multiple, mutually incompatible meanings is highly problematic, particularly when it may influence the management of an individual family. The Lynch syndrome is best understood as a hereditary predisposition to malignancy that is explained by a germline mutation in a DNA MMR gene. The diagnosis does not depend in an absolute sense on any particular family pedigree structure or age of onset of malignancy. Families with a strong family history of colorectal cancer that do not have Lynch syndrome have been grouped as ‘Familial Colorectal Cancer Type-X＇. The first step in characterizing these cancer families is to distinguish them from Lynch syndrome. The term HNPCC no longer serves any useful purpose and should be phased out.

Capsule endoscopy

Capsule endoscopy(CE) is a simple,safe,non-invasive,reliable technique,well accepted and tolerated by the patients,which allows complete exploration of the small intestine.The advent of CE in 2000 has dramatically changed the diagnosis and management of many diseases of the small intestine,such as obscure gastrointestinal bleeding,Crohn's disease,small bowel tumors,polyposis syndromes,etc.CE has become the gold standard for the diagnosis of most diseases of the small bowel.Lately this technique has also been used for esophageal and colonic diseases.

Immunohistochemical localization of glutathione S-transferase-pi in human colorectal polyps

AIM:To investigate the distribution of the placental form of glutathione-S-transferase (GST) in colon polyps in order to evaluate the role of GST-pi in these tissues. METHODS: Sixteen polyp tissues removed at colonoscopy were examined. Tissues were investigated histologically and ultrastructurally. GST-pi expression was also analysed immunohistochemically, using peroxidase anti-peroxidase (PAP) method and immunogold labelling method, for light and electron microscope respectively. RESULTS: All polyp tissues examined were adenoma of low, mild and high-grade dysplasia as shown in the histopathological reports. Nevertheless, the examination of the above specimens with electron microscope revealed that 3 of 9 adenoma of mild dysplasia had ultrastuctural features similar to high-grade dysplasia adenoma. GST-pi was variably expressed in adenoma, with the lowest relative levels occurring in low-gradeadenoma and the highest levels found in high-grade adenoma. GST-pi was located mainly in undifferentiated epithelial cells. GST-pi positive particles were found in the cytoplasm and especially in the nucleus adjacent to the nuclear membrane of these cells. CONCLUSION:The overexpression of GST-pi in mildgrade adenomas with significant subcellular changes and in the majority of high-grade dysplasia adenoma suggests that this might be related to the carcinogenetic proceeding. Immunohistochemical localization of GST-pi in combination with ultrastructural changes indicate that GST-pi might be a sensitive agent for the detection of preneoplastic transformations in adenoma.

Three cases of Solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum

A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum is rare, and few reports have described its characteristic endoscopic features. We describe three cases of solitary Peutz-Jeghers-type hamartomatous polyp and their endoscopic findings in detail. The polyp in all of our three cases showed an irregularly lobular or nodular surface, whereas adenomas often show a regularly nodular or granular surface. The color of the polyp was whitish in all of our cases. In the present cases, close observation by endoscopy revealed that the solitary Peutz-Jeghers-type hamartomatous polyps looked whitish because of the presence of diffusely scattered white spots on the surface of the polyps. Duodenal polyps that exhibit the aforementioned endoscopic characteristics may be diagnosed as Peutz-Jeghers-type hamartomatous polyps and treated by polypectomy because of the malignant potential.

Heterogeneity of colorectal adenomas, the serrated adenoma, and implications for screening and surveillance

Current algorithms for screening and surveillance for colon cancer are valuable, but may be limited by the underlying nature of the targeted neoplastic lesions. Although part of the success of adenoma removal relates to interruption of so-called "adenoma-carcinoma sequence", an alternate serrated pathway to colon cancer may pose difficulties with the ultimate results achieved by traditional colonoscopic methods. The endpoint carcinoma in this unique pathway may be derived from a dysplastic serrated adenoma. These tend to be located primarily in the right colon, especially in females, and are frequently associated with co-existent colon cancer. Unfortunately, however, there are few, if any, other identifiable risk factors, including age or family history of colon polyps or colon cancer. Moreover, this alternate serrated pathway may itself also be quite biologically heterogeneous as reflected in sessile serrated adenomas (SSA) with virtually exclusive molecular signatures defined by the presence of either BRAF or KRAS mutations. Screening algorithms in the future may need to be modified and individualized, depending on new information that likely will emerge on the natural history of these biologically heterogeneous lesions that differs from traditional adenomatous polyps.

Evaluation of fecal occult blood test with reverse passive hemagglutination for colorectal neoplasm screen *

AIM To evaluate the one sampling and three sampling reverse passive hemagglutination fecal occult blood test (RPHA FOBT) for colorectal neoplasm screening.

Clinical predictors of colorectal polyps and carcinoma in a low prevalence region: Results of a colonoscopy based study

AIM: To estimate the prevalence of colorectal cancer (CRC) in patients with long lasting colonic symptoms undergoing total colonoscopy; and to establish clinical features predicting its occurrence. METHODS: This prospective study was carried out in Imam Hospital, Tabriz University of medical sciences, Iran. Continuous patients with long lasting lower gastrointestinal tract symptoms who had the criteria of a colonoscopy were included. The endoscopist visualized the caecum documented by a photo and/or a specimen from terminal ileum. RESULTS: Four hundred and eighty consecutive symptomatic patients [mean age (SD): 42.73 (16.21)] were included. The prevalence of colorectal neoplasia was 15.3% (34 subjects) and 37.7% (181 subjects) had a completely normal colon. Adenomatous polyps were detected in 56 (11.7%) patients, in 12.3% of men and 10.9% of women. The mean age of the patients with a polyp was significantly higher than the others (49.53 ± 14.16 vs 41.85 ± 16.26, P = 0.001). Most of the adenomatous polyps were left sided and tubular; only 22.5% of polyps were more than 10 mm. Cancer was detected in 16 (3.6%) of our study population, which was mostly right sided (57.2%). The mean age of patients with cancer was significantly higher than the others (60.25 ± 8.26 vs 42.13 ± 16.08, P < 0.005) and higher than patients with polyps [60.25 (8.26) vs 49.53 (1.91) (P < 0.0005)]. None of the symptoms (diarrhea, abdominal pain, rectal bleeding, constipation, altering diarrhea and constipation, history of cancer, known irritable bowel disease, history of polyp and fissure or family history of cancer) were predictors for cancer or polyps, but the age of the patient and unexplainedanemia independently predicted cancer. CONCLUSION: Less advanced patterns and smaller sizes of adenomas in Iran is compatible with other data from Asia and the Middle East, but in contrast to western countries. Prevalence of colonic neoplasia in our community seems to be lower than that in western population. Colonic symptoms are not predictors for polyps or cancer but unexplained anemia and elder age can predict CRC.

Defensin expression in chronic pouchitis in patients with ulcerative colitis or familial adenomatous polyposis coli

AIM. Pouchitis develops in ileoanal pouches in up to 50% of patients with ulcerative colitis during the first 10 years after pouch surgery while being rare in patients after proctocolectomy for familial adenomatous polyposis coil （FAP） syndrome. Defensins are major components of the innate immune system and play a significant role in gastrointestinal microbial homeostasis. Pouch defensin and cytokine expression were correlated with states of pouch inflammation to study their role in pouchitis.METHODS： Patients with ulcerative colitis and FAP syndrome were stratified into groups with pouches after surgery, pouches without or with pouchitis. Biopsies from terminal ileum from a healthy intestine or from normal terminal ileum of patients with ulcerative colitis served as controls, mRNA from pouches and controls was analysed for defensin and cytokine expression.RESULTS： Expression of defensins was increased in all pouches immediately after surgery, compared to ileum of controls. Initially, pouches in ulcerative colitis revealed higher defensin expression than FAP pouches. Defensin expression declined in both patient groups and increased again slightly in pouchitis in patients with ulcerative colitis. FAP pouches without pouchitis had strong expression of β-defensin hBD-1, while all other defensins remained at low levels. Cytokine expression in ulcerative colitis pouches was high, while FAP pouches showed moderately elevated cytokines only after surgery.CONCLUSION： Development of pouchitis correlates with decreased defensin expression in ulcerative colitis in addition to high expression of cytokines. The low incidence of pouchitis in FAP pouches correlates with increased expression of hBD-1 β- defensin in association with low cytokine levels.

Clinical features of familial adenomas polyps in Chinese and establishment of its immortal lymphocyte cell lines

AIM： To reserve the rare Chinese familial adenomas polyp （FAP） family resource and to investigate the clinical features of FAP in Chinese for its diagnosis. METHODS： Clinical features of patients with FAP were investigated. If there is any question, their medical records were verified. Blood sample was taken and lymphocyte immortal cell lines were established with modified EB-transformation methods. Congenital hypertrophy of retinal pigment epithelium （CHRPE） was checked by an experienced ophthalmologist. RESULTS： Twenty seven families including 21 classical FAP （CFAP） families, 3 attenuated FAP （AFAP） families, and 3 suspected AFAP families were investigated. A total of 116 lymphocyte immortal cell lines were established from 26 families. In all the FAP families, colorectal cancer occurred at the mean age of 42.84 years. Of the 16 families checked, 15 （93.75%） had CHRPE. The mean number of patients suffering from colorectal neoplasm was 3.14 in CFAP families and 2.0 in AFAP families （P 〈 0.01）. The mean oldest age at diagnosis of FAP was 41.75 years in CFAP families, and 58.67 years in AFAP families, respectively （P 〈 0.01）. Mean age of development of colorectal cancer was 42.23 in CFAP and 57.33 years old in AFAP （P 〈 0.01）. Mean of the earliest age at diagnosis of FAP was 29.95 years in the FAP families with a positive family history and 46.80 years in the FAP families with a negative family history （P 〈 0.01）. The ratio of extra-intestinal tumors to colorectal neoplasms was different in the two kinds of families with positive and negative family history （P 〈 0.01）. CONCLUSION： Additional use of ciclosporin will effectively improve to establish lymphocyte immortal cell lines with modified EB- transformation methods. In Chinese FAP, there was a high frequency of CHRPE, and a later age at diagnosis and a later age of development of colorectal cancer in AFAR And earlier age at diagnosis in FAP with positive family history was also found that will help to diagnose various kinds of FAP in Chinese.

Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden's disease

Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene was found in this case. It was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon). The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.

Diagnosis and treatment of Gardner syndrome with gastric polyposis: A case report and review of the literature

Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 23-year-old female patient with GS who presented with gastric polyposis and was successively treated with restorative proctocolectomy in combination with ileal pouch anal anastomosis (RPC/ IPAA), ileostomy, ileostomy closure operation, snare polypectomy during 8 mo. After operation, the patient took oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu for about 6 mo. The innutrition and anaemia of this patient were gradually improved. Gastroscopy showed that the remnant gastric polypi gradually decreased and finally disappeared 19 mo after the first operation. The patient had 2-3 times of solid stool per day at the time we wrote this paper.

BRAF inhibitor treatment of melanoma causing colonic polyps:An alternative hypothesis

Colonic polyps may arise from BRAF inhibitor treatment of melanoma, possibly due to paradoxical activation of the mitogen-activated protein (MAP)-kinase pathway. In an alternative evidence based scenario, tubular colonic adenomas with APC gene mutations have also been identified in the context of BRAF inhibitor treatment, in the absence of mutations of MAPK genes. A minority of colorectal cancers develop by an alternative “serrated polyp pathway”. This article postulates a novel hypothesis, that the established phenotypic and molecular characteristics of serrated colonic polyps/CRC offer an intriguing insight into the pathobiology of BRAF inhibitor induced colonic polyps. Serrated polyps are characterized by a CpG island methylation phenotype, MLH1 silencing and cellular senescence. They also have BRAF mutations. The contention is that BRAF inhibitor induced polyps mimic the afore-described histology and molecular features of serrated polyps with the exception that instead of the presence of BRAF mutations they induce C-RAF homodimers and B-RAF: C-RAF heterodimers.

Deficiency of Adenomatous Polyposis Coli protein in sporadic colorectal adenomas and its associations with clinical phenotype and histology

AIM： To evaluate the frequency of the loss of the Adenomatous Polyposis Coil （APC） protein and to compare the APC status with the characteristics of colorectal adenomas. METHODS： Immunohistochemical analysis of the APC protein was performed on 118 adenomas and the results were compared with parameters of malignant potential, location of adenomas, macroscopic appearance and age of the patients. RESULTS： A complete loss of the APC protein was found in 28 （24%） adenomas, while 90 （76%） were APC positive. The mean size of adenomas was 13.5± 14.2 mm （95% CI 10.5-16.5） in APC-positive, and 13.8 ±15.5 mm （95% CI 7.8-19.8） in APC-negative adenomas （P = 0.364）. Statistical analysis revealed no difference between APC-positive and negative adenomas as to the histological type （P = 0.327） and grade of dysplasia （P =0.494）. We found that even advanced adenomas did not differ in their APC status from the non-advanced tumors （P = 0.414）. Finally, no difference was found when the location （P = 0.157）, macroscopic appearance （P = 0.571） and age of patients （P = 0.438） were analysed and compared between both APC positive and negative adenomas. CONCLUSION： Most adenomas expressed full-length APC protein, suggesting that protein expression is not a reliable marker for assessment of APC gene mutation. Complete loss of APC protein did not influence morphology, location, or appearance of adenomas, nor was it affected by the patient＇s age.

A case of mucosa-associated lymphoid tissue lymphoma forming multiple lymphomatous polyposis in the small intestine

A 50-year old woman suffering from diabetes had a CT scan that revealed a diffuse thickening of small intestinal wall and swollen paraaortic lymph nodes. An esophago gastroduodenoscopy (EGD) confirmed multiple polypoid lesions in the duodenum and small intestine, and conventional histological testing revealed non-specific inflammatory changes. Further examinations including the immunohistochemical profiles of the biopsied specimens led us to diagnose the lesion as a marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue type, forming multiple lymphomatous polyposis sequentially spreading from duodenal bulb to terminal ileum. According to Lugano’s classification, its staging was clinically diagnosed as stage Ⅱ. Two courses of a standard CHOP (cyclophosphamide, doxorubicin hydrochloride, vincristine sulfate, and predonisolone) regimen with rituximab reduced the lesion and the patient had a almost complete response. A 5-year follow- up EGD and histological examinations detected no recurrence of the disease.

Importance of the surrounding colonic mucosa in distinguishing between hyperplastic and adenomatous polyps during acetic acid chromoendoscopy

AIM: To examine the characteristics of colonic polyps, where it is difficult to distinguish adenomatous polyps from hyperplastic polyps, with the aid of acetic acid chromoendoscopy. METHODS: Acetic acid spray was applied to colonic polyps smaller than 10 mm before complete excision. Endoscopic images were taken before and 15-30 s after the acetic acid spray. Both pre-and post-sprayed images were shown to 16 examiners, who were asked to interpret the lesions as either hyperplastic or adenomatous polyps. Regression analysis was performed to determine which factors were most likely related to diagnostic accuracy. RESULTS: In 50 cases tested by the 16 examiners, the overall accuracy was 62.4% (499/800). Regression analysis demonstrated that surrounding colonic mucosa was the only factor that was significantly related to accuracy in discriminating adenomatous from hyperplastic polyps (P < 0.001). Accuracy was higher for polyps with linear surrounding colonic mucosa than for those with nodular surrounding colonic mucosa (P < 0.001), but was not related to the shape, location, or size of the polyp. CONCLUSION: The accuracy of predicting histology is significantly related to the pattern of colonic mucosa surrounding the polyp. Making a histological diagnosis of colon polyps merely by acetic acid spray is helpful for colon polyps with linear, regularly patterned surrounding colonic mucosa, and less so for those with nodular, irregularly patterned surrounding colonic mucosa.

Inflammatory fibroid polyp occurring in the transverse colon diagnosed by endoscopic biopsy

A case of an inflammatory fibroid polyp occurring in the transverse colon and diagnosed by endoscopic biopsy is reported. The patient was an 82-year-old man who visited our hospital for further evaluation of occult blood in stool. The Colonoscopy revealed a small, red, and peduncular polyp, about 6 mm in diameter, in the transverse colon. Histological examination of the biopsy specimen obtained from the polyp revealed proliferation of fibroblasts and infiltration of inflammatory cells such as plasma cells and eosinophils. This polyp was diagnosed as an inflammatory fibroid polyp, which can appear in many different locations throughout gastrointestinal tract, though still rare in the transverse colon.

Gardner's syndrome:Genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas:A case report

We present a case of a 25-year-old female with diagnosed familial adenomatous polyposis and elevated carcinoembryonic antigen with negative family history. The suspicion of Gardner's syndrome was raised because extirpation of an osteoma of the left temporo-occipital region was made 10 years ago. Restorative procto-colectomy and ileal pouch anal anastomosis was made but histology delineated adenocarcinoma of the rectum (Dukes C stage). We conclude that cranial osteomas often precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome and such patients should be evaluated with genetic testing followed by colonoscopy if results are positive to prevent the development of colorectal carcinoma. If the diagnosis is positive all family members should be evaluated for familial adenomatous polyposis.