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Biomedical subjects

E McGannon

Publications and source records attributed to E McGannon.

At least 19 recordsLinked to original sources

Significance of incidental desmoids identified during surgery for familial adenomatous polyposis.

PURPOSE: The behavior of intra-abdominal desmoids in familial adenomatous polyposis is incompletely understood. Findings range from typical mass lesions to flat sheets, termed the desmoid reaction or desmoid precursor lesion. The latter often are incidental findings of uncertain significance. The study was designed to describe the natural history of incidental intra-abdominal desmoid tumors with particular reference to the desmoid reaction. METHODS: Patients who underwent laparotomy for familial adenomatous polyposis at the Cleveland Clinic Foundation were identified. The incidence of incidental intra-abdominal desmoid tumors was determined by review of operative records. Intra-abdominal desmoid tumors were classified as mass lesions if three-dimensional or desmoid reaction if two-dimensional. The incidence of clinically apparent intra-abdominal desmoid tumors (typical mass lesions on physical examination or cross-sectional imaging in symptomatic patients) was determined by chart review. The incidence of clinical intra-abdominal desmoid tumors between groups was compared by Fisher's exact test. RESULTS: A total of 266 patients (153 females; median age, 26 (range, 9-63) years) underwent abdominal surgery for familial adenomatous polyposis. Incidental intra-abdominal desmoid tumors were identified in 34 patients: 8 at the index surgery and 26 at relaparotomy. These lesions influenced the planned procedure in eight cases (26 percent), including preventing ileoanal pouch in 3 of 19 patients in whom this was intended. The median follow-up from the time of identification of intra-abdominal desmoids was 42 (range, 2-178) months at which point four patients (11 percent) had developed clinical intra-abdominal desmoid tumors. There was no significant difference in incidence of clinical intra-abdominal desmoid tumors between mass and desmoid reaction groups ( P = 0.27). CONCLUSIONS: Incidental intra-abdominal desmoid tumors are a common finding at relaparotomy in patients with familial adenomatous polyposis. These lesions influence planned surgery in a minority of cases. Desmoid reaction may have little bearing on the subsequent development of clinically significant intra-abdominal desmoid tumors.

Adenomatous Polyposis Coli↗

Predicting polyposis severity by proctoscopy: how reliable is it?

PURPOSE: Patients with familial adenomatous polyposis need prophylactic colectomy and ileorectal anastomosis or restorative proctocolectomy. Preoperative rectal polyp counts have been used as one factor to determine which operation should be done, triaging patients according to risk of rectal cancer or completion proctectomy after ileorectal anastomosis. This study was designed to examine the reliability of preoperative proctoscopy in predicting familial adenomatous polyposis severity and outcome after ileorectal anastomosis. METHODS: Familial adenomatous polyposis patients were categorized according to preoperative proctoscopy as follows: Group 1, 5 or fewer adenomas; Group 2, 6 to 19 adenomas; Group 3, 20 or more adenomas. Familial adenomatous polyposis severity was defined as mild if there were < 1,000 polyps in the colon at colectomy and severe if there were > 1,000 polyps. RESULTS: A total of 213 patients were reviewed, 80 in Group 1, 59 in Group 2, and 74 in Group 3. There was no difference among the groups in mean age at presentation. Patients with fewer than five rectal adenomas were predominately females. They rarely had symptoms (22.8 percent), had mostly mild polyposis (86.5 percent), and in 74 of 80 cases underwent ileorectal anastomosis. Only six underwent restorative proctocolectomy. Of those having an ileorectal anastomosis, five needed later proctectomy, none for cancer. Patients with 6 to 19 rectal polyps were a similar group to those with 5 or fewer. Most were asymptomatic (67.8 percent), most had mild polyposis (81.6 percent), and 54 of 59 underwent ileorectal anastomosis (5 had restorative proctocolectomy). Only 3 of the 54 having ileorectal anastomosis needed subsequent proctectomy, 2 for rectal cancer. The patients with 20 or more rectal polyps were different. They usually presented with symptoms (86 percent), the majority (56.6 percent) had severe polyposis, and only 50 percent (37/74) underwent ileorectal anastomosis, the other half having restorative proctocolectomy. Of the 37 patients with an ileorectal anastomosis, 13 needed later proctectomy (35.1 percent), 4 for cancer (10.8 percent). CONCLUSION: Fewer than five rectal adenomas at presentation almost always predicts mild disease, and patients do well after ileorectal anastomosis. Twenty or more adenomas usually means severe disease. Patients with 6 to 19 adenomas are often mildly affected, but their phenotype is less benign than that of patients with fewer than five polyps. Although not foolproof, proctoscopy is a useful test in triaging patients with familial adenomatous polyposis according to disease severity.

Adenomatous Polyposis Coli↗

Family history of colorectal cancer: how often and how accurately is it recorded?

PURPOSE: A family history of colorectal cancer is an important risk factor for the disease. A positive family history means that endoscopic screening should be recommended and a strongly positive family history raises the possibility of a dominantly inherited syndrome. This study was performed to find how often and how accurately a family history of colorectal cancer was recorded in the charts of patients on a colorectal surgical ward. A second aim was to see whether family history-taking could be improved. METHODS: The charts of 100 inpatients on a colorectal surgical floor were reviewed for the presence of a family history of colorectal cancer. Any chart documentation was compared with a family history obtained by a detailed interview. The chart review was repeated four years later. RESULTS: In the initial review, we found that a family history was recorded in 45 of 100 charts. It was accurate for colorectal cancer in 36 charts. Four years later, the rate of family history recording increased to 61 of 96, whereas the accuracy rate (45/61) did not change. Responses to a simple screening question asking about a family history of colorectal cancer were accurate in 77 percent of patients. CONCLUSIONS: Not all colorectal surgical patients have their family histories recorded, and even when it is recorded, it is not always correct. Despite improvement during a four-year period, there is still room for further improvement in the recording of a family history of colorectal cancer. Physicians should make an effort to ask this question and document the response in the hospital chart.

Adult↗

Prior pregnancy ameliorates the course of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis.

PURPOSE: Intra-abdominal desmoid tumors occur in 12 percent of patients with familial adenomatous polyposis. A minority grow quickly and are lethal, most are relatively inert, and some cause problems by obstructing adjacent organs. Desmoid tumors may be estrogen-dependent, and estrogen-blocking drugs are part of the usual treatment of these tumors. This study was performed to examine the effect of pregnancy on the course of patients with familial adenomatous polyposis and intra-abdominal desmoids. METHODS: All females with familial adenomatous polyposis and an intra-abdominal desmoid treated or followed up at this institution were eligible. Stable, asymptomatic desmoids were followed up yearly with examination and CT scan. Growing or symptomatic desmoids were followed up at least every six months. Maximum tumor size was grouped as follows: <10 cm, 10 to 20 cm, and >20 cm. A change in tumor size was defined as a change of +/-50 percent or more of maximum diameter. Stable tumors showed no change in diameter during the study period; variable growth was defined as a significant change in either direction that was followed by a return to previous dimensions or a stabilization of growth. Rapid growth was a doubling of diameter within three months. Pregnant females were compared with nonpregnant females. Subgroups of females were matched for age at diagnosis of desmoid. RESULTS: Twenty-two females had never been pregnant, whereas 25 had been pregnant at least once. Eleven pairs were matched for age. There were no differences between groups in the incidence of extracolonic manifestations of familial adenomatous polyposis, family history of desmoids, number or type of surgeries done for familial adenomatous polyposis, length of follow-up, or time from surgery to desmoid diagnosis. Desmoids in pregnant females had a significantly more benign course: 18 were stable (vs. 6 nonpregnant females), 2 had variable growth (vs. 10), 1 had rapid growth (vs. 5), and 4 disappeared (vs. 1). There were also trends to smaller, less symptomatic tumors requiring treatment less often in pregnant females. CONCLUSIONS: Pregnancy seems to ameliorate the course of abdominal desmoid tumors significantly in females with familial adenomatous polyposis. This finding raises questions about the most appropriate hormonal treatment for these tumors. Perhaps progesterone or prolactin therapy should be tried, alone or in combination with estrogen. If further studies confirm these findings, females with a family history of desmoid tumors should not be advised against pregnancy.

Adenomatous Polyposis Coli↗

Adrenal masses in patients with familial adenomatous polyposis.

PURPOSE: The aims of this study were 1) to report the characteristics and the clinical outcome of familial adenomatous polyposis (FAP) patients with adrenal masses in the FAP registry at the Cleveland Clinic Foundation and 2) to estimate the prevalence of adrenal masses detected by computed tomography in FAP patients compared with that expected in a normal population. METHODS: A retrospective review was undertaken of the FAP registry database at our institution. Only 738 patients treated at the Cleveland Clinic Foundation were included in the study. A meta-analysis was conducted to determine the relative risk of adrenal incidentaloma in this series of FAP patients and in a general population as reported in the four largest pertinent studies published in the past 15 years. RESULTS: Fifteen patients (11 females) were identified. Two patients had symptoms related to cortisol hypersecretion (arterial hypertension) and underwent surgery. The final pathology was adrenocortical carcinoma and bilateral nodular hyperplasia. Adrenal masses were found incidentally (incidentalomas) in 13 patients: 12 were detected by computed tomography and one during laparotomy for total abdominal colectomy. Only one patient underwent left adrenalectomy for a 5-cm mass. Pathologic report revealed adrenocortical adenoma. Among the 738 patients considered in this study, only 162 underwent abdominal computed tomographic scan, mainly for assessing intra-abdominal desmoid. The prevalence of incidentaloma in our series compared with that reported in the literature is significantly different (7.4 vs. 0.6-3.4 percent; P < 0.001 (chi-squared test)). DISCUSSION: Although the presence of other extracolonic manifestations represents a selection bias for computed tomographic study in our series, the incidence of incidentalomas in FAP patients seems to be higher than in a general population. However, incidental detection of an adrenal mass in FAP patients has probably a limited clinical relevance, and the management should be the same as that for the normal population.

Adenomatous Polyposis Coli↗

Results after restorative proctocolectomy and ileal pouch-anal anastomosis in patients with familial adenomatous polyposis and coexisting colorectal cancer.

Although the operation of choice for patients with familial adenomatous polyposis (FAP) is restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA), its place in the management of patients with FAP and cancer has not been defined. The authors have reviewed their experience with these patients to determine the safety of IPAA and its efficacy as a cancer operation. The records of 55 patients with FAP who had undergone IPAA were examined. Follow-up studies included an annual questionnaire and physical examination. Eight patients had FAP with coexisting colorectal cancer. Median age at diagnosis was 25 (range 13-46) years, and at operation 33 (range 22-36) years. Of the eight patients (four men), four had colonic cancer and four had rectal cancer. Synchronous colorectal carcinoma was found in two patients. Staging according to the tumor node metastasis classification showed that five patients had stage 1 tumour, two had stage 2 and one had stage 3. Tumours were well, moderately or poorly differentiated in one, five and two patients respectively. During a median follow-up of 56 (range 14-98) months, metastasis developed in the liver of one patient 66 months after surgery. Two patients suffered complications: one had small bowel obstruction and the other mucosal prolapse. Tubular adenomas were found in the pouch of two patients and in the anal transitional zone of one. Pouch function is good to excellent in all surviving patients. Restorative proctocolectomy for patients with FAP and coexisting colorectal cancer can be undertaken with a favourable prognosis and function. It is compatible with curative intent.

Adenomatous Polyposis Coli↗

Quality of life after prophylactic colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis.

BACKGROUND: Prophylactic colectomy or proctocolectomy is standard treatment for colorectal manifestation of familial adenomatous polyposis (FAP), a dominantly inherited disorder for which the risk of developing colorectal cancer in an untreated patient is close to 100 percent. Hereditary nonpolyposis colorectal cancer (HNPCC) is also dominantly inherited but has a lower risk of colorectal cancer than FAP and does not have a clinically obvious phenotype. The role of prophylactic colectomy in patients with HNPCC is controversial. PURPOSE: This study was performed to examine the outcome of colectomy and ileorectal anastomosis (IRA) so its use as a prophylactic procedure can be better evaluated. METHODS: Records of all patients undergoing IRA for FAP between 1985 and 1993 were reviewed. Demographic data and data about the operation were collected. Surgical outcome data included length of hospital stay, complications, bowel function, quality of life, and patient satisfaction. RESULTS: There were 51 patients with a median age of 28 years; 24 were male. All but eight patients were asymptomatic, and all had less than 1,000 polyps in the resected specimen. Mean surgery time was 3.5 hours, mean blood loss was 406 ml, and median length of hospital stay was seven days. There were no deaths, and eight patients (16 percent) had complications. Mean number of stools per day after median follow-up of 4.2 years was 3.6. Only 11 patients had nighttime stooling. Four patients reported seepage, 9 had some incontinence, and 16 had urgency. Quality of life, rated on a scale of 0 to 10, was 7 or above in 44 of 48 assessed patients. Quality of health was rated 7 or higher in all 48 patients, energy level was 7 or higher in 39 patients, and overall happiness with surgery was 7 or higher in 47 patients. CONCLUSIONS: Colectomy and IRA is a relatively safe operation that results in minimum disturbance of bowel function. Patient satisfaction is usually high. Prophylactic colectomy can be offered to HNPCC gene carriers with a greater understanding of the likely outcome of surgery.

Adenomatous Polyposis Coli↗

Surgery for the teenager with familial adenomatous polyposis: ileo-rectal anastomosis or restorative proctocolectomy?

Increasing numbers of polyposis registries have led to more young patients being diagnosed with familial adenomatous polyposis (FAP). To provide guidelines for selecting the appropriate surgical procedure in teenagers (10-19 years), we compared the results of colectomy and ileo-rectal anastomosis (IRA, n = 17 patients) to the results of restorative proctocolectomy and ileal pouch-anal anastomosis (IPAA, n = 7 patients). Charts were reviewed to obtain data on the operative technique, blood loss and transfusions, hospital stay (including the time for ileostomy closure), and early (within 30 days of surgery) and late complications. Functional results (bowel movements per 24 h, use of antidiarrheal drugs, seepage, and fecal incontinence) and quality of life were evaluated prospectively with a questionnaire and physical examination. The median follow-up time was 49 months (range, 6 to 95 months) after IRA, and 36 months after IPAA (range, 4 to 87 months). Although restorative proctocolectomy and IPAA, is a longer (5.75 vs 3.1 hours), more bloody (500 vs 300 mL blood loss), and more complex operation with a longer hospital stay (12 vs 7 days) than IRA (P = 0.008, P = 0.006, P = 0.02, respectively), no significant difference (P > 0.05) was found between groups concerning the complication rate or quality of life. For teenagers with FAP and rectal carpeting, large rectal adenomas, curable cancer in the upper two-thirds of the rectum, or who are unavailable for follow-up, we recommend a restorative proctocolectomy and IPAA. For the other patients, the decision whether to perform IRA or restorative proctocolectomy with IPAA depends on the patient's desire and the surgeon's skill.

Adenomatous Polyposis Coli↗

Noncytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis.

Forty of 416 patients with familial adenomatous polyposis were noted to have intra-abdominal desmoid tumors, and a subgroup of 16 were treated with noncytotoxic drug therapy. Drugs used were sulindac (14 patients), sulindac plus tamoxifen (3 patients), indomethacin (4 patients), tamoxifen (4 patients), progesterone (DEPO-PROVERA; Upjohn Co., Kalamazoo, MI) (2 patients), and testolactone (1 patient). Therapy with these drugs for continuous periods of six months or more resulted in three complete and seven partial remissions. When treated patients were compared with untreated patients (n = 12), there were significant benefits for the treated group, both in reduction of desmoid size and in improvement of symptoms, despite the inherent selection bias against this. Sulindac was the only drug used in enough patients to permit independent evaluation of its effect, with one complete and seven partial reductions of tumor size. Some patients had a delayed response to sulindac, with tumor shrinkage occurring after an initial period of tumor enlargement. When using sulindac for the treatment of desmoid tumors, this phenomenon should be considered.

Abdominal Neoplasms↗

Gastroduodenal polyps in patients with familial adenomatous polyposis.

A review of the endoscopy reports and pathology results from esophagogastroduodenoscopy (EGD) of all patients with familial adenomatous polyposis (FAP) undergoing such an examination was performed. Two hundred forty-seven patients were identified, with an overall prevalence of duodenal adenomas of 66 percent and of fundic gland polyps of 61 percent. Analysis of our more recent experience (1986 to 1990) shows the prevalence to be 88 percent and 84 percent, respectively. A normal-appearing papilla was adenomatous in 50 percent of cases. No case of periampullary carcinoma developed in patients under surveillance. Routine EGD is indicated for patients with FAP. Duodenal adenomas and fundic gland polyps will occur in the majority of patients.

Adenomatous Polyposis Coli↗

Evaluation of polymorphic genetic markers for linkage to the familial adenomatous polyposis locus on chromosome 5.

A gene associated with the inherited syndrome, familial adenomatous polyposis (FAP), has been localized to the long arm of chromosome 5 near the 5q21-22 region, and markers that identify genetic polymorphisms near this locus are now available. The authors evaluated several of these markers for linkage to the FAP trait in 11 families entered in the Cleveland Clinic Polyposis Registry. The original probe that established linkage to the FAP locus (C11p11) has limited utility for family studies because of low heterozygosity and distance from the FAP gene. Other probes, however, should be useful for assessing FAP inheritance by restriction fragment length polymorphism analysis, for presymptomatic diagnosis of the disease.

Adenomatous Polyposis Coli↗

Spontaneous mutation in familial adenomatous polyposis.

A retrospective review of the familial adenomatous polyposis registry at the Cleveland Clinic Foundation revealed an incidence of spontaneous mutation in familial adenomatous polyposis (FAP) of 22 percent of family kindreds. These patients were reviewed retrospectively and compared with the total FAP population followed at The Cleveland Clinic Foundation with respect to the onset of disease, the incidence of carcinoma in the resected colon, and incidence of extracolonic manifestations. Review of the characteristics and presentations of these patients suggested that these individuals may harbor a more severe form of FAP. This may be due, in part, to the delay in diagnosis and, therefore, a higher rate of development of colorectal carcinoma and possibly duodenal adenomas. There is also a demonstrable higher rate of extracolonic manifestations of FAP present in this subset of patients. When selecting the initial type of prophylactic colonic resection the surgeon should bear in mind the increased incidence of extracolonic manifestations of the disease in this group of patients and their potential for complications.

Adenomatous Polyposis Coli↗

Predictive value of congenital hypertrophy of the retinal pigment epithelium as a clinical marker for familial adenomatous polyposis.

One hundred forty-eight members of 53 kindreds with familial adenomatous polyposis (FAP) were examined for congenital hypertrophy of the retinal pigment epithelium (CHRPE) and extracolonic manifestations (ECM) to assess the value of CHRPE as a predictive marker for FAP. Based on eye examination results, the families were divided into 2 groups. In a first group of 34 families, all 61 members diagnosed as having polyps and 13 of the 33 patients at risk had 4 or more lesions distributed in both eyes. By contrast, in a second group of 18 families, all 32 polyposis patients and all 18 members at risk had less than 4 lesions. Extra-colonic manifestations were present in 26 of 34 families in the first group and in 11 of 18 families in the second group. Data on one family with ambiguous ancestry were reviewed separately. The existence of 4 or more CHRPE lesions distributed in both eyes seems to be a congenital marker for FAP, present in 65.4 percent of families. When present in a family: 1) it is found in all diagnosed patients in that family, 2) can therefore be considered predictive for the development of polyps in other family members who carry the trait, and 3) if confirmed by longer follow-up, may possibly preclude members without the trait from further evaluation and surveillance.

Adenomatous Polyposis Coli↗

Mortality in patients with familial adenomatous polyposis.

The authors identified 132 patients who died with a documented diagnosis of familial adenomatous polyposis (FAP). A review of the medical records, autopsy reports, and in-depth discussion with local physicians and well-informed family members was performed. It was impossible, even after the review, to ascertain the exact cause of death in 22 patients. In the remaining patients, the cause of death was as follows: metastatic colorectal carcinoma, 64 patients (58.2 percent), (colon, 49 [44.5 percent], rectal, 15 [13.6 percent]); desmoid tumors, 12 (10.9 percent); periampullary carcinoma, 9 (8.2 percent); brain tumors, 8 (7.3 percent); perioperative mortalities, 5 (4.5 percent); adrenal carcinoma, 1 (0.9 percent); and abdominal carcinomatosis, 1 (0.9 percent). Ten patients died of causes not related to FAP. The major causes of death in 36 patients who underwent prophylactic colectomy were desmoid tumor and periampullary malignancy. This finding underscores the importance of lifelong surveillance and periodic endoscopic evaluation in patients with FAP.

Abdominal Neoplasms↗

Brain tumors in familial adenomatous polyposis.

Familial adenomatous polyposis was always believed to be a colonic disease of genetic determination with a high risk of development of cancer of the large bowel. Over the years the list of extracolonic manifestations of this disease, both benign and malignant, has amplified. Brain tumors and, in particular, medulloblastoma have not become recognized as major malignant extracolonic manifestations of familial adenomatous polyposis. They are of particular significance because, unlike most of the other manifestations, they occur prior to or early in the development of the colonic manifestations of this disease. This report documents the investigation of 168 kindreds in The Cleveland Clinic Familial Adenomatous Polyposis Registry in a search for those at-risk individuals who developed brain tumors.

Adenomatous Polyposis Coli↗

Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis.

One hundred fifty-three members of 56 kindreds with familial adenomatous polyposis (FAP) underwent funduscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE). All patients underwent wide-angle fundus photography to document lesions, proctosigmoidoscopy to document polyps, and examination for extracolonic manifestations. Ninety-seven patients were diagnosed as having FAP and 56 patients were offspring of FAP patients and thus at 50% risk of inheriting the disease. In two thirds of the kindreds, CHRPE could be used as a congenital phenotypic marker to predict the presence or development of polyps. In these kindreds, all patients with diagnosed FAP and 39% of the patients at risk had at least four CHRPE lesions. In one third of the kindreds, CHRPE could not be used as a predictive congenital marker, and in these kindreds all patients had zero to three total lesions of CHRPE. The presence of CHRPE did not correlate with any other extracolonic manifestations. In kindreds without any other extracolonic manifestations, CHRPE can still be present and can be used as a predictive congenital phenotypic marker.

Adenomatous Polyposis Coli↗

Spontaneous resolution of rectal polyps in patients with familial polyposis following abdominal colectomy and ileorectal anastomosis.

One hundred sixteen patients were reviewed after abdominal colectomy and ileorectal anastomosis (IRA) for familial polyposis to determine the rate of postoperative spontaneous regression of rectal polyps. The failure of the IRA procedure was correlated with the preoperative number of rectal polyps and the degree of rectal polyp regression. Spontaneous resolution of rectal polyps occurred in 64 percent of the patients (complete 38 percent, partial 26 percent). In those patients initially having complete resolution, 55 percent redeveloped polyps during follow-up. With a mean follow-up of 9.3 years, seven patients have developed rectal cancer. Rectal cancer development was more common in those patients who had innumerable rectal polyps prior to IRA. Initial polyp regression did not preclude later development of rectal cancer. There were 11 deaths during the follow-up period, but only one of these was from rectal cancer. Abdominal colectomy and IRA is an effective treatment for familial polyposis. Spontaneous regression of polyps occurred in 64 percent of patients, but continuous and complete follow-up is necessary to fulgurate recurrent polyps and to screen for the development of cancer.

Adenomatous Polyposis Coli↗

Gastric and duodenal polyps in familial adenomatous polyposis: a prospective study of the nature and prevalence of upper gastrointestinal polyps.

One hundred patients with familial adenomatous polyposis have prospectively undergone gastroduodenoscopy to identify and characterise polyps found. Forty six patients had polyps in the stomach or duodenum. Thirty five patients had adenomas (33 in duodenum, two in stomach) and 26 patients had fundic gland polyps. Some of these patients had polyps in the stomach and the duodenum. Adenomas in the duodenum were present in 33% of patients studied with Gardner's syndrome variant (p = 0.04). Adenomas were also more common in older patients. As adenomas may be a precursor of adenocarcinoma, routine surveillance of the stomach and duodenum with gastroduodenoscopy is recommended in patients affected with familial adenomatous polyposis.

Adenomatous Polyposis Coli↗