Familial Polyposis Of Colon Research Articles

2934 Thermal Ablation Is Effective for Recurrent Papillary Adenomas After Endoscopic Resection

INTRODUCTION: Endoscopic papillectomy (EP) has been regarded as a safe and effective treatment for benign or premalignant ampullary tumors. There were many studies about indications, techniques, short-term and long-term complications, and prognosis. However, 5%-24% of cases of complete resection by EP have been recurred within 6-24 months. Proper treatment for recurrent cases depends on the individual features. Because papilla changed to flat fibrous scar after EP, 2nd EP is usually impossible or induces severe complications. Thermal ablation with electrocautery or argon plasma coagulation, approved as an effective and safe procedure for recurrent papillary adenomas. However, there were few data about long-term effects of thermal ablation for recurred ampullary neoplasm. We retrospectively analyzed the cases of papillary tumors treated by conventional EP and followed for more than 5 years. For recurrent papillary adenomas, we treated with thermal ablation with bipolar electrocautery and followed for more than 3 years. METHODS: Twenty cases with papillary mass who underwent EP over a 10 year were reviewed. Endoscopic papillectomy was performed for benign or premalignant papillary tumors. Surveillance after EP was performed at 3, 9 months and yearly thereafter with side-viewing endoscopy. During follow-up, recurrent cases were treated depending on pathological diagnosis and long-term outcomes were analyzed. Mean duration of follow-up was 52 months. RESULTS: Pathologic diagnosis were low grade dysplasia (n = 11), high grade dysplasia (n = 3), adenomyoma (n = 3), inflammatory lesion (n = 2), and paraganglioma (n = 1). Complete resection achieved in 19 cases by en block in 18 cases (90%) and additional endoscopic thermal ablation in one case with low grade dysplasia. One case of incomplete resection revealed high grade dysplasia and was treated with surgical ampullectomy. Three sporadic cases and one familial colonic polyposis recurred at 16, 18, 24, and 36 months after surgery, respectively. Three low grade dysplasia and one high grade dysplasia diagnosed by papillectomy pathology revealed low grade dysplasia by surveillance biopsy. Four cases were treated with one or multiple sessions of electrocoagulation. During follow up period after 2nd treatment, recurrence did not occurred. CONCLUSION: Recurrence occurred frequently in ampullary adenomas after complete resection. However, they can be safely treated with thermal ablation. Careful surveillance more than 3 years is needed after EP for ampullary adenomas.

Clinicopathological characteristics and prognosis analysis of colorectal synchronous multiple primary cancer

To investigate the clinicopathological features and prognosis of colorectal synchronous multiple primary cancer(SMPC). From January 2008 to June 2011, 51 patients diagnosed with colorectal SMPC underwent surgery at Department of General Surgery of Peking University First Hospital. Their clinicopathological features, diagnosis, treatment and prognosis were summarized and analyzed. SMPC was diagnosed according to the following criteria: each tumor must have a definite pathologic picture of malignancy; metastasis or recurrence from another colorectal cancer was excluded; tumors must be distinctly separated by at least 5 cm of all intact bowel wall from each other; SMPC has abnormal cells between tumor and normal mucosa and abnormal gland of transitional zone; each cancer is infiltrating carcinoma except the carcinoma in situ; all the cancers are detected at the same time or within 6 months. Multiple primary colorectal cancer originated from familial colonic polyposis or ulcerative colitis was excluded. These 51 colorectal SMPC patients accounted for 3.5% of 1 452 colorectal cancer patients in the same period at our hospital, with 32 males and 19 females, and mean age of (63±13)(29 to 82) years. Of 51 cases, 46(90.2%) had 2 original carcinoma, 3(5.9%) had 3 original carcinoma and 2(3.9%) had 4 carcinoma; 23(45.1%) complicated with colon polyps, 4(7.8%) complicated with malignancy outside the colorectum. In TNM staging, 7(13.7%), 15(29.4%), 24(47.1%) and 5(9.8%) patients were stage I(, II(, III( and IIII( respectively. Among 51 patients undergoing surgery by different procedures, 16 were subtotal colon resection, 8 were extended right colon resection, 5 were extended left hemicolon resection, 8 were right hemicolon resection plus Dixon procedure, 10 were Dixon, and 4 were right hemicolon resection plus sigmoid colon resection. Adjuvant chemotherapy and support treatment were given according to the condition after operation. A total of 105 tumors were found, including 25(23.8%) tumors in sigmoid colon, 24(22.9%) in rectum, 22(21.0%) in ascending colon and 4 in organs outside the colorectum. Tubular adenocarcinoma (86/105, 81.9%) was the main pathological type in these colorectal SMPC patients. During the follow-up of median 43.5 months, 10 cases presented local recurrence and 6 cases had liver metastasis. Multivariable analysis showed that ≤65 years old (OR=22.757, 95%CI: 1.562-331.543, P=0.002),undifferentiated carcinoma or mucous adenocarcinoma (OR=27.174, 95%CI: 2.834-260.512, P=0.004), stage III(-IIII( (OR=29.626, 95%CI: 3.216-272.884, P=0.003) were independent risk factors of postoperative 5-year recurrence and metastasis, but the number of SMPC lesions and the surgical method were not associated with postoperative 5-year recurrence and metastasis (P=0.564, P=0.513). The 3-year and 5-year survival rates of colorectal SMPC patients were 76.5% and 64.7%. Two-original carcinoma is the most common in colorectal SMPC patients, which mainly distributes in sigmoid colon and rectum. Postoperative monitoring should be strengthened for those patients with younger age, poor pathological types and advanced staging to prevent recurrence and metastasis.

Giant desmoid tumor of the abdominal wall in a patient with Gardner Syndrome

Gardner syndrome (GS) is a rare entity characterized by a triad of familial colonic polyposis, multiple osteomas and soft tissue tumors, including desmoid tumor (DT). This is a case report of a 30 year-old patient with GS who developed giant DT in the abdominal wall after undergoing several laparotomies. The patient has taken a long time to search for medical care, and at first he saw another team that refused to operate him by judging the lesion unresectable. The surgery in our department was performed in three steps. Initially, we resected the lesion with macroscopic margins, and as there were small bowel adhesions in the tumor, we performed enterectomy and closed using the "Bogotá" technique, with skin closure on the bag. On the fourth postoperative day (POD), we reoperated the abdomen without identifying any signs of fistula. On the seventh POD there was another surgical intervention, this time to insert a double-sided mesh. The patient recovered well, and had no debilitating motor deficit, despite the extensive resection of the abdominal muscles. Curative treatment of DT is based on surgical resection and only sequential surveillance allows us an early diagnosis, when the lesion is still resectable.

Tumor desmoide intraabdominal simulando una tumoración pancreática en una paciente con poliposis colónica familiar

Introduction Fibromatosis consists of a benign fibroblastic proliferation with local infiltrative growth. Two types are recognized: a superficial and a deep form, also known as desmoid tumor. The latter may occur sporadically or in association with familial adenomatous polyposis and Gardner's syndrome. Pancreatic presentation is exceptional and only eight cases have been described in the literature. Case report We report the case of a 29-year-old woman with a history of familial colonic polyposis and two pancreatic lesions. In the surgical specimen, two poorly defined pancreatic lesions were observed with infiltration of neighboring organs. Histologically, the lesions corresponded to mesenchymal proliferation with a fusocellular pattern without cytological atypica, which were diagnosed as desmoid tumors. Discussion The etiology of fibromatosis is unknown. In patients with familial colonic polyposis, the most common localization of desmoid tumor is intra-abdominal. Pancreatic presentation is unusual, requiring differential diagnosis with other pancreatic neoplasms.

Ileoanal pouch procedures in children

Purpose: The aim of this study was to review the long-term experience with colectomy and the ileoanal pouch procedure (IAPP) in children from one hospital. Methods: Between 1977 and 2001, 168 children under 18 years of age underwent colectomy and IAPP. One hundred thirty-one had ulcerative colitis (UC). Twenty-six had familial colonic polyposis (FP), 9 had Hirschsprung's disease (HD), and 2 had colonic inertia. Ninety-seven had a J-pouch, 62 had a lateral pouch, and 9 had a straight pull-through (SP). The mean age was 13.9 years. Results: Complications within 2 years included pouchitis (16%), ileoanal strictures (14%), and adhesions (7%). There were no deaths. Fifty-six patients (33%) required reoperation, including 20 revisions of large pouches and 8 conversions of SP to pouches because of stool frequency. Six children (3.6%) had later pouch removal (3 had Crohn's disease). Stool frequency at 6 months was 3.8 (mean). At 6 months 5% had occasional soiling. Eighty-four percent can delay defecation over 1½ hours; 82% can urinate without a bowel movement. With a mean follow-up of 11.2 years, 94.6% are functioning well. Conclusions: Colectomy with IAPP is the preferred operation for children with UC, FP, and selected HD. The J-pouch is the preferred technique because of simplicity of construction and sparsity of complications. J Pediatr Surg 36:1689-1692. Copyright © 2001 by W.B. Saunders Company.

E-Cadherin Gene (CDH1) Mutations for Detection of Familial Occult Gastric Cancer

This article has no abstract.

Familial adenomatous polyposis

A 41-year-old female was admitted into Nan Fang Hospital for severe abdominal pain with bloody-mucoid stool for a month. The symptoms started a year ago without obvious causes and she did not have any systemic treatment. The patient felt fatigue and loss of weight for the last three months and increased frequency of bloody-mucoid discharge from 2-4 times/day to 10 times/day for the last month. Two weeks ago the patient had a proctoscope with biopsy in Pan Yu people's Hospital. The pathological diagnosis was rectal villous adenoma with focal malignant changes. Rectal examination in this hospital found a rectal mass, 4 cm from the anus, longitudinal growing and occupying a quarter of the circumference. Further colonofiberscope diagnosis was familial polyposis of colon. Family history showed that her father died of lung cancer, her mother died of colonic cancer and her brother and sister were healthy. A total colo-rectectomy with ileostomy was performed.

Reconstruction for chronic dysfunction of ileoanal pouches.

A retrospective review was performed to determine the results after surgical reconstruction for chronic dysfunction of ileal pouch-anal procedures for ulcerative colitis and familial colonic polyposis at a university medical center. During the 20-year period from 1978 to 1998, 601 patients underwent colectomy and ileal pouch-anal anastomosis (IPAA) for ulcerative colitis, familial colonic polyposis, or Hirschsprung's disease. A J pouch was used for 351 patients, a lateral pouch for 221, an S pouch for 6, and a straight pull-through for 23. Acute complications after pouch construction have been detailed in previous publications and are not included in this study. Chronic pouch stasis with diarrhea, frequency, urgency, and soiling gradually became more severe in 164 patients (27.3%), associated with pouch enlargement, an elongated efferent limb, and obstruction to pouch outflow, largely related to the pouch configuration used during the authors' early clinical experience. These patients were sufficiently symptomatic to be considered for reconstruction (mean 68 months after IPAA). Transanal resection of an elongated IPAA spout was performed on 58 patients; abdominoperineal mobilization of the pouch with resection and tapering of the lower end (AP reconstruction) and ileoanal anastomosis on 83; pouch removal and new pouch construction on 7; and conversion of a straight pull-through to a pouch on 16. Good long-term results (mean 7.7 years) with improvement in symptoms occurred in 98% of transanal resections, 91.5% of AP reconstructions, 86% of new pouch constructions, and 100% of conversions of a straight pull-through to a pouch. The average number of bowel movements per 24 hours at 6 months was 4.8. Complications occurred in 11.6% of reconstructed patients. Five of the 164 patients (3.1%) required eventual pouch removal and permanent ileostomy. The high rate of pouch revision in this series of patients undergoing IPAA is due to a policy of aggressive correction when patients do not experience an optimal functional result, or have a progressive worsening of their status. Although occasionally a major undertaking, reconstruction of ileoanal pouches with progressive dysfunction due to large size or a long efferent limb has resulted in marked improvement in intestinal function in >93% of patients and has reduced the need for late pouch removal.

A false-positive diagnosis of C-cell hyperplasia in a member of a family with multiple endocrine neoplasia type 2A and familial colonic polyposis

Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal-dominant inherited disease. More than 90% of gene carriers with MEN 2A have medullary thyroid carcinoma (MTC), which is also the main cause of death. Approximately 50% of patients have pheochromocytoma and 10% to 20% have hyperparathyroidism.1

Tumor Susceptibility Genes.

Cancer develops and progresses as the result of accumulated genetic damage or mutations. These mutations are most commonly described as either oncogenes, which positively regulate cell growth, or tumor suppressor genes, which negatively regulate cell growth. When oncogenes are mutated, cell growth signals are enhanced; mutations in tumor suppressor genes lead to a reduction in the level of growth retarding activities. While it was hypothesized that advances in molecular genetics would lead to the identification of specific mutations that cause common solid tumors, progress was relatively slow until approximately 20 years ago. The first genetic mutations were identified in patients with hereditary tumors such as retinoblastoma and familial colonic polyposis. With the development of positional cloning techniques and the discovery of polymerase chain reaction methodology, the identification of genetic mutations in familial tumors increased such that newly identified mutations in familial cancer syndromes are now commonplace. Some of the genetic mutations identified in hereditary cancer are shown in the Table. This review focuses on examples of molecular genetic discoveries in solid tumors, and their importance in the diagnosis and treatment of patients with two malignancies, retinoblastoma and familial colon carcinoma.

Colonic polyps and acrochordons (skin tags) do not correlate in familial colonic polyposis kindreds.

Brief Reports1 February 1986Colonic Polyps and Acrochordons (Skin Tags) Do Not Correlate in Familial Colonic Polyposis KindredsGORDON D. LUK, M.D.GORDON D. LUK, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-104-2-209 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe incidence of colon cancer and survival after surgical resection have not improved in the last 40 years (1). Evidence supports the belief that adenomatous tissue transforms to colorectal cancer tissue (2). The identification of colonic polyps can help in monitoring persons at high risk for developing colon cancer, and polyp removal can result in a decreased incidence of colon cancer (1).An association between the presence of acrochordons—simple skin tags—and colonic polyps has been reported in patients with acromegaly (3, 4), and in a general hospital patient population with colonic disorders who were referred for colonoscopy (5). This association prompted...

Ornithine decarboxylase as a biologic marker in familial colonic polyposis: G.D. Luk and S.B. Baylin. N Eng J Med 311:80–83, (July 12), 1984

Ornithine decarboxylase as a biologic marker in familial colonic polyposis: G.D. Luk and S.B. Baylin. N Eng J Med 311:80–83, (July 12), 1984

Ornithine decarboxylase as a biologic marker in familial colonic polyposis.

We investigated whether the activity of ornithine decarboxylase might serve as a diagnostic test for detecting the presence of the genotype for familial polyposis. This rate-limiting enzyme in the polyamine biosynthetic pathway is essential for intestinal mucosal proliferation. In colonic mucosa from 16 normal controls, ornithine decarboxylase activity was less than 2.5 nmol per milligram per hour. In contrast, it was higher than 2.5 nmol per milligram per hour in the normal-appearing areas of colonic mucosa from 11 of 13 patients with familial polyposis and in all polyps biopsied from these same subjects (P less than 0.05 for specimens from both sites, as compared with controls). Mucosa from dysplastic polyps showed higher mean ornithine decarboxylase activity than mucosa from polyps that were not dysplastic (P less than 0.05). In colonic mucosa from clinically unaffected, first-degree relatives of patients with familial polyposis, there was a bimodal distribution of ornithine decarboxylase activity, with one peak at the mean for normal controls and the other near the mean for normal-appearing mucosa from affected patients. Our study suggests that ornithine decarboxylase activity in colonic mucosa may reflect the abnormal proliferative state in familial polyposis and identify clinically normal family members who carry the genotype.

Interface between pathology and epidemiology in carcinogenesis.

The bottom line here is how or whether our toxicological studies relate to ourselves, to human neoplasia--but the latter is, in important ways, imperfectly defined by the best that can so far be arranged using morphological and epidemiologic methods. There are at least three basic questions: 1) with what precision can the histopathologist define and diagnose cancer in humans--hence emphasis here upon human cancer models, 2) to what extents can difficulties be resolved using animal models, where some similar difficulties are met, and 3) to what extents can epidemiology resolve these difficulties. Not all these problems can be resolved, and the investigator is left with a residue of questions for which no answers are presently available. Some of these are exemplified or precipitated by inconclusive or mistaken diagnoses. In the future awaits practical help from specific biochemical markers and morphometry, but in the present, vigilance and consultation should limit error to a small fraction of observations. In the meantime, existing methods and data are perfectly adequate for study and action in various clinical problems, eg. transmission of familial polyposis of colon, definition and control of various adverse drug reactions.

Complementary role of CT and ultrasonography in the diagnosis of desmoid tumor of abdominal wall

Seven desmoid tumors of anterior abdominal wall in three patients were scanned with ultrasound. These include one tumor in each of two patients and five tumors in another patient who had familial colonic polyposis (i.e. Gardner's syndrome). The tumors were echo-free and sharply and smoothly defined simulating cysts. CT on the patient with multiple masses, however, showed the density of the masses to be that of soft tissue. Combined ultrasonography and CT, a homogeneous tumor of abdominal wall such as desmoid can be suggested.

Das Gardner-Syndrom

An exact history was taken and clinical, endoscopic and histologic studies were performed in 14 family members of a case of Gardner's syndrome with triple symptomatology documented with biopsy and autopsy findings. Among the symptom-free probands five cases of colonic polyposis and three cases with gastric polyps were found. All polyps were histologically adenomatous. Dysplasias grade I and II were found repeatedly, in one 16-year-old adolescent there was already severe dysplasia within the gastric mucosal polyps. A warning is given against sub-classification of familial colonic polyposis and other syndromes within the definition of Gardner's syndrome. In future during diagnostic investigations for cases of Gardner's syndrome isolated gastric polyposis should be sought for as well as monosymptomatic colonic polyposis. Diagnostic procedures and treatment should depend on endoscopic and histological findings. Regular follow-up with endoscopic biopsies are to be encouraged not only in the diseased cases but also in all family members available.

Epithelial cell kinetics in the crypts of familial polyposis of colon.

Epithelial cell kinetics were examined in the uninvolved part of the rectal mucosa in nine cases of familial polyposis of colon, six cases of their first degree relatives, and six control cases. The biopsied specimen were incubated for two hours in the culture medium containing H3-thymidine. In the control cases, the proliferating zone was confined to the lower two thirds of the crypt in all except one case. Six of the nine cases of familial polyposis of colon had crypts with altered proliferating zone, i.e., incorporation of H3-thymidine was observed in the upper one third of the crypt as in the case of adenomatous polyps. Three of the six cases of the first degree relatives showed such change. There were significant differences in the incidence of such change between controls and familial polyposis of colon or their first degree relatives, whereas no significant differences between familial polyposis of colon and their first degree relatives.

4. Re-Evaluation of Clinico-Histopathological Determination on Malignancy, on the Evidence of Exaggerated Survery over the Entire Polyps, in Two Cases of Familial and Non-Familial Diffuse Colonic Polyposis with Partial Malignant Changes

In order to re-analyze the quality (anaplasia)—quantity (dimension, portion)—interrelationship in judging malignancy for final diagnosis, an exaggerated histological survey throughout the entire polyps of 920 pieces in a familial and of 2, 333 pieces in a non-familial diffuse colonic polyposis with partial malignant transformation was attempted with special remarks on borderline type (carcinoma in situ).Some notes were drawn from the consideration of correlation among the polyp site, their sizes and the atypism. Only one unquestoinable polyp-carcinoma in each case was found in rectum and S-romanum, respectively.On the basis of the exhaustive observation over the whole polyps with their quality-quantity relations, the control of subjective (personal or individual) factors is prepossessed for discrepancy between histological dicision (a doctrine) and an undetermined aspect of each polyp (a real existence).Thus, a simple classification of cancer or non-cancer group, abandonning the grading system I to V, practically contributory toward clinical fields was newly proposed after the elucidation of our criteria.

A family with familial colonic polyposis and cancerization

I wish to present 1 family 2 sisters with familial colonic polyposis.Case 1 is a 25-year-old woman, complaining of diarrhea with massive blood coagula. She was found to have diffuse colonic polyposis with rectal cancer and was performed total colectomy. Her father had died of rectal cancer. Her eldest sister, that is, case 2 was also found by laparatomy to have diffuse colonic polyposis with sigmoid cancer. Her youngest sister was found by sigmoidscopy to have rectal polyposis (3 polyps were found in the rectum). So, I can say to have a family of familial colonic polyposis.In order to determine whether there was a presence of precancerous lesions, a patho-histological study of all polyps was carried out on the numerous polyps of the colon and rectum of case 1. These results were as follows:1) The total number of polyps was 920 and they were pathohistologically all sessil adenomatous polyps except for one which was pedunculated.2) These polyps were classified into five groups according to their degree of malignancy from atypia 0, atypia 1, atypia 2, atypia 3 and cancer. The result was atypia 0-260 (28.2 %), atypia 1-234 (25.4 %), atypia 2-256 (27.8 %), atypia 3-137 (14.9 %) and cancer-33 polyps (3.6 %).3) The highest incidence of site for malignant polyps was found in the order of descending colon, sigmoid colon, rectum, rectosigmoid, and transverse colon.4) Most of the malignant polyps were large in size, but 75 polyps (8.1 %) were less than 2 mm. in diameter.5) The polyps were equally distributed among the colon.Cass 2 is a sister of case 1. She was also founb to have colonic polyposis with sigmoid cancer. Only sigmoidectomy was carried out and 42 polyps surrounding a sigmoid cancer were removed. None of 42 polyps were cancerous, but 18 of them were of the atypia 2 type.The electron microscopic findings of a few of case 2 patient's polyps showed slight atypia such as gathering of chromatin, irregularly shaped nucleolus, and very few microvilli. There were relatively few Goblet Cells in the polyps. The findings of another one showed a more severe degree of malignacy such as almost no microvilli and slightly increased in number of endoplasma reticulum.

ROENTGENOGRAPHIC FINDINGS IN GARDNER'S SYNDROME.

THE ASSOCIATION of small intestinal polyps with characteristic pigmentation of the oral mucosa, lips, and digits (Peutz-Jeghers syndrome)1is a fairly well-known entity, but the association of true multiple colonic polyposis with other specific pathological findings is less well known. Although a few previous isolated reports had noted such an association, it remained for Gardner et al, in a series of articles from 1950 to 1953,2-5to bring to the attention of the medical profession the relationship between (1) familial multiple colonic polyposis, (2) multiple osteomatosis, and (3) various cutaneous and soft-tissue tumors. Since that time, the association of these disorders has been commonly referred to as Gardner's syndrome. The case reported below illustrates the roentgenographic findings in Gardner's syndrome. Report of a Case A 23-year-old single white salesman (204972) was seen at the surgical clinic. He first noticed a lump on the left side of his jaw