Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Until the advent of capsule endoscopy (CE) and device-assisted enteroscopy (DAE) coupled with the advances in radiology, physicians had limited diagnostic examination for small bowel examination. CE and new radiologic imaging techniques have made it easier to detect small bowel tumors. DAE allows more diagnosis and deeper reach in small intestine. CT enteroclysis/CT enterography (CTE) provides information about adjacent organs as well as pictures of the intestinal lumen side. Compared to CTE, Magnetic resonance enteroclysis/enterography provides the advantage of soft tissue contrast and multiplane imaging without radiation exposure. Treatment and prognosis are tailored to each histological subtype of tumors.
Adenomatous Polyposis Coli ; Capsule Endoscopy ; Diagnosis ; Gastrointestinal Tract ; Intestinal Polyposis ; Intestine, Small ; Peutz-Jeghers Syndrome ; Prognosis ; Radiation Exposure

Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.
Adenomatous Polyposis Coli ; Child ; Diagnosis ; Endoscopy, Gastrointestinal ; Epidermal Cyst* ; Gardner Syndrome* ; Humans ; Intestinal Polyposis* ; Jaw ; Male ; Maxilla ; Odontoma ; Osteoma* ; Radiography, Dental ; Scalp ; Stomach ; Tooth, Impacted ; Upper Gastrointestinal Tract

Hereditary syndromes cause approximately 5 to 15% of overall colorectal cancer (CRC) cases. Hereditary CRC is conventionally divided into two major categories: hereditary non-polyposis colorectal cancer (HNPCC) and those related to polyposis syndromes including familial adenomatous polyposis (FAP), Peutz-Jegher syndrome (PJS), and juvenile polyposis (JP). The screening for the cancer and methods of treatment applied to patients with hereditary CRC are quite different from those applied to the general population. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become the most important determining factor in clinical decisions. Germ-line mutation of the APC gene induces FAP, an autosomal dominant disorder, characterized by the development of hundreds to thousands of colonic adenomas. CRC appears in almost all affected individuals by the time they are 50 years of age. An affected individual should undergo colectomy by his/her late teens. Furthermore, according to the findings of genetic testing, at-risk family members also need endoscopic surveillance and surgery. Recently, a mutation on the MYH gene is increasingly being investigated in patients with multiple polyps, and autosomal recessive MYH polyposis is considered to be a new category of polyposis. More common than FAP, HNPCC is caused by germ-line mutations in DNA mismatch repair genes, mainly MLH1 and MSH2. Although there is no polyposis, polyps seem to be more villous and dysplastic and appear to grow rapidly into CRCs. The aggregate lifetime risk of CRC is about 80% for mutation carriers. The risk for other types of cancer, such as endometrial, ovarian, small bowel, and transitional cell cancer, is also increased. The Amsterdam criteria and Bethesda guidelines are the best-known tools for diagnosis and genetic testing, and colectomy followed by endoscopic follow-up is the standard treatment. PJS and JP are reported to be characterized by hamartomatous polyps throughout the GI tract and germ-line mutations in the STK11 gene (PJS) and the DPC4/BMPR1A gene (JP).
Adenomatous Polyposis Coli/*genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis/*genetics ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Intestinal Polyposis/diagnosis/*genetics ; Peutz-Jeghers Syndrome/diagnosis/*genetics

BACKGROUND/AIMS: The clinical spectrum, histology, and endoscopic features of colonic polyps in the pediatric age group were studied to evaluate the role of colonoscopy in children suspected of having colonic polyps. METHODS: Seventy-six patients with colorectal polyps were studied. Investigations included barium enema (n=6), sigmoidoscopy (n=17), and colonoscopy (n=53) at the initial visit. Colonoscopy was also performed in 23 patients who received barium enema or sigmoidoscopy. Data related to age, gender, family history, signs, symptoms, size, location, polyp types, and associated diseases were collected and analyzed. RESULTS: Among the 76 patients, juvenile polyps were detected in 58 (76.3%), potentially premalignant polyposis in 17 (22.4%), familial adenomatous polyposis in 11 (14.5%), Peutz-Jegher syndrome in 4 (5.3%), and juvenile polyposis syndrome in 2 (2.6%). Twenty-two patients (28.9%) had polyps in the upper colon. All patients with potentially malignant polyps had polyps in both the upper colon and rectosigmoid colon. CONCLUSIONS: Although most of the children with colorectal polyps had juvenile polyps, a significant number of cases showed multiple premalignant and proximally located polyps. This finding emphasizes the need for a colonoscopy in such patients. Thus, the risk of malignant change, particularly in children with multiple polyps, makes surveillance colonoscopy necessary.
Adenomatous Polyposis Coli ; Barium ; Child ; Colon ; Colonic Polyps ; Colonoscopy ; Enema ; Humans ; Intestinal Polyposis ; Neoplastic Syndromes, Hereditary ; Peutz-Jeghers Syndrome ; Polyps ; Sigmoidoscopy

PURPOSE: Colonic polyposis is less common in children than in adults. The clinical data pertaining to colonic polyposis in children are limited. Children with colonic polyposis have complications associated with numerous polyps, malignant transformation of the polyps, and extraintestinal neoplasms. We studied the clinical spectrum, endoscopic characteristics, and histologic findings of colonic polyposis in Korean children. METHODS: We reviewed the clinical data of 37 children with multiple colonic polyps between 1987 and 2009. The mean age at the time of diagnosis of colonic polyposis was 8.0+/-3.2 years. RESULTS: Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis (FAP), and lymphoid polyposis was diagnosed in 22, 7, 6, and 2 children, respectively. The most common clinical presentation in children with colonic polyposis was hematochezia. A family history of colonic polyposis was noted in 7 children. The colonoscopic findings of colonic polyposis varied with the size and number of polyps. The majority of polyps were multi-lobulatd and pedunculated in children with Peutz-Jeghers syndrome. The polyps in children with juvenile polyposis syndrome were primarily round and pedunculated. For the children with FAP, the colon was carpeted with small, sessile polyps. There were multiple sessile polyps in the patients with lymphoid polyposis. Surgical polypectomy was performed in 14 children (38%). Intestinal segmental resection was performed in 13 children (35%). Four patients with FAP underwent total colectomy. Four children with Peutz-Jeghers syndrome had extraintestinal neoplasms. No malignant transformation of polyp was identified. CONCLUSION: Children with colonic polyposis should undergo a careful initial evaluation and require periodic re-evaluation.
Adenomatous Polyposis Coli ; Adult ; Child ; Colectomy ; Colon ; Colonic Polyps ; Endoscopy ; Floors and Floorcoverings ; Gastrointestinal Hemorrhage ; Humans ; Intestinal Polyposis ; Neoplastic Syndromes, Hereditary ; Peutz-Jeghers Syndrome ; Polyps

PURPOSE: Colonic polyposis is less common in children than in adults. The clinical data pertaining to colonic polyposis in children are limited. Children with colonic polyposis have complications associated with numerous polyps, malignant transformation of the polyps, and extraintestinal neoplasms. We studied the clinical spectrum, endoscopic characteristics, and histologic findings of colonic polyposis in Korean children. METHODS: We reviewed the clinical data of 37 children with multiple colonic polyps between 1987 and 2009. The mean age at the time of diagnosis of colonic polyposis was 8.0+/-3.2 years. RESULTS: Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis (FAP), and lymphoid polyposis was diagnosed in 22, 7, 6, and 2 children, respectively. The most common clinical presentation in children with colonic polyposis was hematochezia. A family history of colonic polyposis was noted in 7 children. The colonoscopic findings of colonic polyposis varied with the size and number of polyps. The majority of polyps were multi-lobulatd and pedunculated in children with Peutz-Jeghers syndrome. The polyps in children with juvenile polyposis syndrome were primarily round and pedunculated. For the children with FAP, the colon was carpeted with small, sessile polyps. There were multiple sessile polyps in the patients with lymphoid polyposis. Surgical polypectomy was performed in 14 children (38%). Intestinal segmental resection was performed in 13 children (35%). Four patients with FAP underwent total colectomy. Four children with Peutz-Jeghers syndrome had extraintestinal neoplasms. No malignant transformation of polyp was identified. CONCLUSION: Children with colonic polyposis should undergo a careful initial evaluation and require periodic re-evaluation.
Adenomatous Polyposis Coli ; Adult ; Child ; Colectomy ; Colon ; Colonic Polyps ; Endoscopy ; Floors and Floorcoverings ; Gastrointestinal Hemorrhage ; Humans ; Intestinal Polyposis ; Neoplastic Syndromes, Hereditary ; Peutz-Jeghers Syndrome ; Polyps

Hyperplastic polyps occur either sporadically or as a symptom of polyposis syndrome. When individuals exceed 50 polyps, they are diagnosed with hyperplasic polyposis. Moreover, since such cases are even more sporadic than hyperplastic polyps, the course toward this occurrence has not been properly evaluated. A change to malignancy in hyperplastic polyps is rare; however, when multiple lesions are present, the tendency increases. Colorectal polyposis syndromes with gastric polyps include familial adenomatous polyposis, Gardners syndrome, Peutz-Jeghers syndrome, juvenile polyposis and others with a non-genetic origin. Three cases of multiple colorectal hyperplastic polyposis with gastric hyperplastic polyposis have been reported worldwide; however, a case associated with multiple colonic adenomas has not yet been reported. This study reviews the existing literature and reports our recent experience of a case, in which a 53 year-old man with colorectal and gastric hyperplastic polyposis with associated multiple colonic adenomas.
Adenoma* ; Adenomatous Polyposis Coli ; Colon* ; Gardner Syndrome ; Humans ; Hyperplasia ; Middle Aged ; Peutz-Jeghers Syndrome ; Polyps

Hyperplastic polyps are a benign epithelial proliferation and a common type of colorectal and gastric polyps. Malignant change of hyperplatic polyps is rare. Patients with multiple lesions however, tend to have a high frequency of malignancy. Colorectal polyposis syndromes with gastric polyps include familial adenomatous polyposis, Gardners syndrome, Peutz-Jeghers syndrome, juvenile polyposis and others. But the case of colorectal hyperplastic polyposis with multiple gastric hyperplastic polyps has not been reported until now. A case was recently experienced involving a 32 year old women with both colorectal and gastric hyperplastic polyposis. Multiple hyperplastic polyps were found in the lower part of the body and the antrum of the stomach, rectosigmoid, transverse and ascending colon.
Adenomatous Polyposis Coli ; Adult ; Colon, Ascending ; Female ; Gardner Syndrome ; Humans ; Peutz-Jeghers Syndrome ; Polyps* ; Stomach*

BACKGROUND/AIMS: A flexible spectral imaging color enhancement system was installed in new capsule software for video capsule endoscopy. Contrast image capsule endoscopy (CICE) is a novel technology using light-emitting diodes selected for the main absorption range of hemoglobin. We assessed the feasibility and diagnostic effi cacy for small bowel surveillance in patients with polyposis syndromes. METHODS: Six patients with polyposis syndromes, four with familial adenomatous polyposis and one each with Cowden syndrome (CS) and Cronkhite-Canada syndrome (CCS) were examined using CICE. We conducted three evaluations to assess the effect on the numbers of the detected polyps; compare polyp diagnostic rates between adenoma and hamartoma; and assess polyp visibility. RESULTS: The numbers of detected polyps and diagnostic accuracy did not differ signifi cantly between pre-contrast and contrast images. However, 50% of the adenomatous polyps displayed enhanced visibility on contrast images. CICE contrast images exhibited clearly demarcated lesions and improved the visibility of minute structures of adenomatous polyps. Hamartomatous polyp micro-structures in patients with CS and CCS were more clearly visualized on contrast than pre-contrast images. CONCLUSIONS: CICE is an effective tool for enhancing the visibility of polyps in patients with polyposis syndrome.
Absorption ; Adenoma ; Adenomatous Polyposis Coli ; Adenomatous Polyps ; Capsule Endoscopes ; Capsule Endoscopy ; Hamartoma Syndrome, Multiple ; Hemoglobins ; Humans ; Intestinal Polyposis ; Polyps

No abstract available.
Intestinal Polyposis*