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 Fishers 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.Presented at the meeting of The American Society of Colon and Rectal Surgeons, Chicago, Illinois, June 4 to 8, 2002.Reprints are not available.     

Ileoanal Pouch Neoplasia in Familial Adenomatous Polyposis: An Underestimated Threat

PURPOSE Ileal pouch-anal anastomosis is one of the two main options available for the surgical treatment of patients with familial adenomatous polyposis. Its main advantage is the minimal risk of rectal cancer but a possible Achilles heel is the recurrence of epithelial neoplasia at the ileal pouch-anal anastomosis and within the ileal pouch. The significance of ileoanal anastomotic and ileal pouch adenomas is not yet fully appreciated, and there is a false sense of security about this operation. The consequences of worsening pouch polyposis are serious in that endoscopic treatment is unlikely to be an effective way of controlling it. This study has been done to alert those caring for patients with familial adenomatous polyposis to the looming danger of pouch polyposis and to suggest ways to deal with it.METHODS Studies reporting ileoanal pouch adenomas, ileal pouch-anal anastomotic cancers, and ileal pouch cancers in patients with familial adenomatous polyposis were reviewed. Reports of adenomas in Kock pouches and in Brooke ileostomies in the setting of familial adenomatous polyposis were included. The primary end points of the study were the time between pouch construction and the diagnosis of neoplasia, the age of the patients at the diagnosis of neoplasia, and the severity of the neoplasia.RESULTS There were 18 studies reporting pouch neoplasia, 15 with adenomas, and 3 with cancer. Ten were case reports, five were retrospective studies, and three were prospective studies. All three prospective studies showed that the incidence of pouch adenomas increases with time of follow-up and that the severity of the polyposis varies. The median time from pouch construction to diagnosis of pouch adenomas was 4.7 years and the range was 0.5 to 12 years. There were six studies reporting eight patients with cancer at the ileal pouch-anal anastomosis, diagnosed a median of 8 years after pouch construction (range, 3–20 years). One-half of the cancers were locally advanced (T4) and one-half were not (T1 or T2). One-half followed stapled anastomosis and one-half were after mucosectomy. There were eight case reports of cancer described in an ileostomy in patients with familial adenomatous polyposis. The median time from ileostomy construction to the ileostomy cancers was 25 (range, 9–40) years.DISCUSSION The combination of fecal stasis, adenomatous epithelium, and a germline APC mutation is a potent recipe for epithelial neoplasia. There is increasing evidence that this happens in an ileostomy but that the process is much faster in an ileal pouch. Endoscopic treatment of ileal adenomas is likely to be difficult, reducing the options for their control to excising the entire pouch or chemoprevention.Reprints are not available.     

Incidental Small Ampullary Somatostatinoma Treated with Ampullectomy 2 Years After Diagnosis

Somatostatinomas are rare tumors; ampullary somatostatinomas are very rare. We report a case of a small pure somatostatin-producing neuroendocrine tumor of ampulla of Vater in a 54-year-old woman with neither neurofibromatosis nor somatostatinoma syndrome, “incidentally” discovered during an abdominal computed tomography. The patient initially refused other adjunctive exams but after 2 years she was admitted, presenting with itch, night sweats, severe fatigue, and unintentional weight loss. The size of the tumor (1.5 cm) and the other radiologic findings had not changed since the abdominal CT scan 2 years before. The somatostatin, gastrin, glucagons, serotonin, vasoactive intestinal peptide, dopamine, norepinephrine, epinephrine, and calcitonin plasma levels were normal. ERCP-obtained biopsies revealed a neuroendocrine tumor with psammoma bodies; immunohistochemical profile was positive for chromogranin and somatostatin. The patient underwent surgery; intraoperative histologic examination of lymph nodes sampling of perihepatic and periduodenal lymph nodes was negative for metastasis. We performed, therefore, a transduodenal ampullectomy. The patient continues to do well at 3 years’ follow-up with no evidence of local or distance recurrence of disease.     

Diagnosis and management of ampullary adenoma: The expanding role of endoscopy

Ampullary adenoma is a pre-cancerous lesion arising from the duodenal papilla that is often asymptomatic.It is important to distinguish whether the adenoma is sporadic or arises in the setting of familial adenomatous polyposis as this has important implications with respect to management and surveillance.Multiple modalities are available for staging of these lesions to help guide the most appropriate therapy.Those that are used most commonly include computed tomography,endoscopic ultrasound,and endoscopic retrograde cholangiopancreatography.In recent years,endoscopy has become the primary modality for therapeutic management of the majority of ampullary adenomas.Surgery remains the standard curative procedure for confirmed or suspected adenocarcinoma.This review will provide the framework for the diagnosis and management of ampullary adenomas from the perspective of the practicing gastroenterologist.     

The Role of Chromoendoscopy in the Surveillance of the Duodenum of Patients with Familial Adenomatous Polyposis

Adenomas of the duodenum have been described in patients with familial adenomatous polyposis (FAP). Patients with FAP are at high risk for the development of periampullary cancer. The aim of our study was to evaluate if endoscopic visualization of small polyps, often overlooked at standard endoscopic examination, was improved by chromoendoscopy. Ten patients with FAP and previous colectomy underwent upper gastrointestinal endoscopy. Two skilled endoscopists were involved for each endoscopy. Evaluation of number and diameter of polyps was made before and after staining. After staining we detected a larger number of duodenal polyps than found at the standard endoscopic examination, the difference being statistically significant. This result seems to suggest that chromoendoscopy may improve diagnostic yield of endoscopy. Further studies are needed to suggest the best surveillance program and the appropriate therapeutic modality for these patients.     

Investigation of APCMutations in a Turkish Familial Adenomatous Polyposis Family by Heterodublex Analysis

PURPOSE Familial adenomatous polyposis is an autosomal dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis coli gene are primarily responsible for the development of this disease. This study was designed to investigation of adenomatous polyposis coli (APC) gene mutations in members of familial adenomatous polyposis family to identify individuals at risk of the disease.METHODS We examined one patient with familial adenomatous polyposis and 21 family members including one affected person from familial adenomatous polyposis and 20 nonsymptomatic persons. We studied E, D, F, and G segments of exon 15 of the adenomatous polyposis coli gene by heteroduplex analysis.RESULTS We used silver staining method for staining. We found a mutation for five persons at segment F of exon 15 of the adenomatous polyposis coli gene. Two of them were affected by colorectal cancer, one of whom was the proband, and the other three were nonsymptomatic family members. The pathogenetic mutation was a T deletion at codon 1172, causing a frameshift in the adenomatous polyposis coli gene, as a result of the sequencing analysis of these cases.CONCLUSIONS Investigation of adenomatous polyposis coli gene mutations is very important for the identification of genetic susceptibility to colorectal cancer and for the definition of tumor developing at an early stage. Furthermore, the identification of this mutation for the first time in a Turkish family will be useful to foster further studies on familial adenomatous polyposis in Turkey.     

Centralized Registration,Prophylactic Examination,and Treatment Results in Improved Prognosis in Familial Adenomatous Polyposis: Results from the Danish Polyposis Register

Background: Over the last few decades numerous regional and national registers have been established all over the world with the aim of improving survival in familial adenomatous polyposis (FAP). The Danish Polyposis Register was founded in 1971 and coordinates the screening and subsequent prophylactic colectomy of FAP patients. Methods: The crude cumulative survival in 321 patients (205 probands and 116 call-up cases) with verified FAP was calculated in accordance with the life-table method. Results: At the time of diagnosis of FAP only 2 of 116 (2%) had colorectal cancer versus 142 of 205 probands (69%). The 10-year cumulative survival was 94% (95% confidence limits, 89-99) in call-up cases compared with only 41% (34-49) in probands (p < 0.00001), and survival improved significantly (p < 0.00001) after the establishment of the Danish Polyposis Register. Conclusion: The establishment of a centralized polyposis register has resulted in a substantial improvement of the prognosis in FAP.     

Progressive Duodenal Adenomatosis in a Familial Adenomatous Polyposis Pedigree with APC Mutation at Codon 1556

PURPOSE: In familial adenomatous polyposis, genotype-duodenal phenotype correlations have not been clearly understood. We identified the adenomatous polyposis coli gene mutation in a family pedigree with severe duodenal adenomatosis. METHODS: Among 53 familial adenomatous polyposis families, we found a pedigree composed of five affected members with severe duodenal adenomatosis. Clinical manifestations of the family members were reviewed. The adenomatous polyposis coli gene of four members were screened by polymerase chain reaction-based single strand conformation polymorphism or protein truncation test. RESULTS: The family was characterized by sparse colorectal polyposis, osteomas, and epidermal cysts. However, there were intrafamilial variabilities in the occurrence of fundic gland polyposis, congenital hypertrophy of the retinal pigment epithelium, and desmoids. All the members had duodenal adenomatosis in their second or third decades, and the adenomatosis in three members progressed during surveillance. A frameshift mutation was found at codon 1556 of the adenomatous polyposis coli gene in two members, and the equivalent mutation was confirmed by protein truncation test in another two. CONCLUSIONS: Distal 3 mutation of the adenomatous polyposis coli gene seems to contribute to severe duodenal adenomatosis in familial adenomatous polyposis. Specification of the adenomatous polyposis coli gene mutation may be a clue for surveillance strategy for duodenal adenomatosis in patients with familial adenomatous polyposis.     

Staging Intra-Abdominal Desmoid Tumors in Familial Adenomatous Polyposis: A Search for a Uniform Approach to a Troubling Disease

INTRODUCTION Desmoid tumors are a clinical problem in 12 to 15 percent of patients with familial adenomatous polyposis. There is no predictably effective treatment for intra-abdominal desmoid tumors, which sometimes cause significant complications by their effects on the ureters or bowel. The relative rarity and the clinical heterogeneity of intra-abdominal desmoid tumors make randomized studies difficult to do. In this article a staging system is proposed to make multi-institutional studies easier.METHODS Intra-abdominal desmoid tumors can be staged according to their size, clinical presentation and growth pattern.CONCLUSION A way of staging intra-abdominal desmoid tumors is proposed to facilitate stratification by disease severity during collaborative studies of various treatments.This paper has not been previously presentedNo reprints will be available     

Quality of Life in Adults Diagnosed With Familial Adenomatous Polyposis and Desmoid Tumor

PURPOSE The purpose of this study was to examine the health-related quality of life in a sample of Canadian adults diagnosed with familial adenomatous polyposis and desmoid tumor.METHODS The study was conducted in two parts. Seven individuals participated in a focus group prior to a mail-out survey. A cross-sectional mail-out survey was administered to eligible individuals who were actively followed at the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital.RESULTS Forty-one individuals (25 female and 16 male) were available to be contacted by the registry coordinator and 23 questionnaire packages were completed, resulting in a 56.1 percent participation rate. The results of this study demonstrated a reduced health-related quality of life for individuals living with familial adenomatous polyposis and desmoid tumor for over 10 years. The main predictors of health-related quality of life in this analysis included marital status (married vs. not married), prior knowledge of desmoid tumor in the family, and current level of hopelessness (R ² = 0.856, df = 13, F = 26.8, P < 0.001). The qualitative content analysis of themes from the focus group indicated that ongoing medical uncertainty and lack of information from health care professionals, isolation, and family communication were the main challenges in living with desmoid tumors.CONCLUSIONS The findings from this study suggest that ongoing education of health care professionals is warranted and that information and support interventions may be beneficial to this clinical population.A Research Scientist Career Award from the National Cancer Institute of Canada with funds from the Canadian Cancer Society supports Mary Jane Esplen.     

<Emphasis Type="Italic">APC</Emphasis> Genotype Is Not a Prognostic Factor in Familial Adenomatous Polyposis Patients With Colorectal Cancer

PURPOSE Several studies have shown that the clinical phenotype of patients with familial adenomatous polyposis is influenced by the position of the associated germline mutation in the APC gene. The aim of this work was to assess whether the site of the APC mutation may also predict the survival of familial adenomatous polyposis patients with a confirmed diagnosis of colorectal cancer.METHODS A total of 387 familial adenomatous polyposis patients with colorectal cancer were examined. Of these, 287 (74 percent) belonged to families with an identified mutation, whereas 100 (26 percent) were from families in which no detectable APC mutation had been found by standard screening methods. The subjects were subdivided into four groups, according to the presence and localization of the identified mutation: with mutation before (a), at (b), or beyond codon 1309 (c), and without identified mutation (d).RESULTS The cumulative five-year survival estimate of all cases included in the study was 0.56 (95 percent confidence interval, 0.51–0.61). No difference was observed in survival probability among patients from families with mutations before (0.56; 95 percent confidence interval, 0.49–0.63), at (0.58; 95 percent confidence interval, 0.43–0.72), or beyond (0.52; 95 percent confidence interval, 0.31–0.73) codon 1309 or those from families that were mutation negative (0.58; 95 percent confidence interval, 0.48–0.68) (log-rank test, P = 0.9). Survival analysis did not reveal any significant advantage for patients carrying a mutation in a specific region of the APC gene, after adjustment for age, gender, site, and stage.CONCLUSION These data do not support the hypothesis that APC mutation may influence the outcome of familial adenomatous polyposis cases affected by colorectal cancer.Reprints are not available.Supported in part by grants from the Italian Association and Foundation for Cancer Research (AIRC/FIRC) and the Italian Ministry of Health (grant PF1999).Presented at the Third Joint Meeting of the Leeds Castle Polyposis Group and the International Collaborative Group for Hereditary Non-Polyposis Colorectal Cancer, April 26 to 28, 2001, Venice, Italy.     

Impact of Familial Adenomatous Polyposis on Young Adults: Quality of Life Outcomes

Purpose This study used a novel questionnaire to assess quality of life and psychologic adjustment among young adults aged 18 to 35 years with a diagnosis of, or at risk of, developing familial adenomatous polyposis. Methods Eighty-eight participants (25 males) were recruited through four Australian Hereditary Bowel Cancer Registries. Results The average age of participants was 28 years, and the average age of these participants at the time of their last genetic consultation was 23 years. Seventy-one participants (81 percent) had clinical familial adenomatous polyposis, of whom 57 had undergone an ileorectal anastomosis or formation of an ileal pouch with anal anastomosis to prevent colorectal cancer. The ileal-pouch-with-anal-anastomosis group had significantly more adverse outcomes for physical functioning, body image, sexual impact, and negative affect compared with the no-surgery group—and significantly more negative outcomes for physical functioning and negative affect compared with the ileorectal-anastomosis group. Among the total sample, a small proportion (11.4 percent) had avoidance scores indicative of a significant stress response, and being single was associated with higher levels of avoidance responses about familial adenomatous polyposis (z = −3.19; P = 0.001). Conclusions Familial adenomatous polyposis may have a negative impact across a broad range of life domains. Being single is an important risk factor for adverse psychologic outcomes. Delaying surgery, especially ileal pouch with anal anastomosis may minimize the negative impact on physical and psychologic functioning. Referral for psychologic intervention may be required for a small proportion of those affected by familial adenomatous polyposis, and ongoing access to genetic services may help to identify and address the needs of this group. Poster presentation at International Congress of Human Genetics, Brisbane, Australia, August 6 to 10, 2006; the International Meeting on Psychosocial Aspects of Genetic Testing for Hereditary Cancer, Philadelphia, Pennsylvania, June 9 to 10, 2005; and Australia Gastroenterology Week, Adelaide, Australia, October 11 to 14, 2006. Presented at the Kathleen Cuningham Consortium for Familial Aspects of Breast Cancer Meeting, Queensland, Australia, August 30 to September 3, 2005; and the Conference of the International Society for Gastrointestinal Hereditary Tumors, Newcastle, United Kingdom, June 14 to 17, 2005. Funded by the Cure Cancer Foundation of Australia. Bettina Meiser is supported by a Career Development Award from The National Health and Medical Research Council of Australia (ID 350989). Reprints are not available.     

An Evidence-Based, Multidisciplinary Approach to the Clinical Considerations, Management, and Surveillance of Adrenal Lesions in Familial Adenomatous Polyposis: Report of Three Cases

Adrenal masses are commonly discovered incidentally in patients with familial adenomatous polyposis, and adrenal malignancies have been rarely reported. Individuals with familial adenomatous polyposis frequently undergo abdominal CT-scan examinations for surveillance or symptoms. Adrenal lesions often are detected unexpectedly and are thus becoming a common clinical problem in this population. Adrenal lesions encompass a heterogeneous spectrum of pathologic entities, including primary adrenocortical and medullary tumors, benign or malignant lesions, hormonally active or inactive lesions, metastases, and infections. When an adrenal mass is detected, the clinician needs to address two crucial questions: 1) is the mass malignant? and 2) is it hormonally active? This article presents three new cases of incidental adrenal lesions in familial adenomatous polyposis, reviews the medical literature for this setting, and provides an overview of the diagnostic clinical approach and management of the adrenal findings in familial adenomatous polyposis patients.     

Large Villous Adenomas Arising in Ileal Pouches in Familial Adenomatous Polyposis: Report of Two Cases

A restorative proctocolectomy or ileal pouch procedure is one of the main surgical options for patients with familial adenomatous polyposis. The main premise underlying the recommendation of a pouch procedure rather than an ileorectal anastomosis is that it minimizes the risk of rectal cancer. Several studies have evaluated the risk of developing pouch adenomas. There also have been reports of pouch cancers, although the long-term risk of malignancy cannot yet be quantified. Most pouch polyps reported have been small tubular adenomas with mild dysplasia. A 19-year-old female with familial adenomatous polyposis had a colectomy and ileorectal anastomosis. Progressive rectal polyposis led to a restorative proctocolectomy at aged 38 years. Four years later, a large, 3-cm × 2-cm, villous adenoma was identified in the mid pouch, which was resected endoscopically. A 32-year-old male with familial adenomatous polyposis had a restorative proctocolectomy. Ten years after surgery, pouch endoscopy revealed several large, villous adenomas arising from the pouch mucosa. These advanced polyps may present a significant risk for cancer development and require close endoscopic surveillance. These findings strengthen the recommendation for careful regular endoscopic surveillance of familial adenomatous polyposis pouches and the evaluation of management and treatment strategies for pouch adenomas.     

Colectomy and Ileorectal Anastomosis is still an Option for Selected Patients with Familial Adenomatous Polyposis

Purpose  The risk of rectal cancer after colectomy and ileorectal anastomosis may be reduced in the last decades, as patients with severe polyposis now have an ileoanal pouch. We have reevaluated the risk of rectal cancer and proctectomy for all causes according to the year of operation. Methods  On the basis of the year of operation in 776 patients with ileorectal anastomosis and 471 pouch patients in Denmark, Finland, Holland, and Sweden, the “pouch period” was defined to start in 1990. Ileorectal anastomosis follow-up data was captured by May 31, 2006. The cumulative risk of rectal cancer and proctectomy was compared before and after 1990 by Kaplan-Meier analysis. Results  In the prepouch period 56/576 patients (10 percent) developed rectal cancer, vs. 4/200 (2 percent) in the pouch period. Neither the cumulative risk of rectal cancer (p = 0.07) nor the cumulative risk of proctectomy (p = 0.17) changed. However, in females the cumulative risk of rectal cancer (p = 0.04) and of proctectomy (p = 0.03) were lower in the pouch period. Conclusions  Since the introduction of the ileoanal pouch rectal cancer has decreased after ileorectal anastomosis, but only statistically significant in females. This indicates that ileorectal anastomosis may still be justified in selected patients with mild adenomatosis, especially in young females. Presented at the meeting of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), Yokohama, Japan, March 28 to 30, 2007. Reprints are not available.     

Familial Adenomatous Polyposis in Children Younger than Age Ten Years: A Multidisciplinary Clinic Experience

Purpose Children with familial adenomatous polyposis have a greater mortality and morbidity in the first decade of life compared with the general population. Some children with a more severe disease phenotype present early with colorectal adenomata and may require colectomy at an early age. We present our multidisciplinary clinic experience with familial adenomatous polyposis in children younger than age ten years at the time of presentation. Methods A cross-sectional analysis was performed on all patients with suspected or confirmed familial adenomatous polyposis presenting in the first decade of life and followed by the multidisciplinary Pediatric Hereditary Polyposis Clinic at our institutions. Analysis included demographics, clinical presentation and course, gene mutation testing, endoscopic-histologic findings, and surgical outcome. Results Twenty-two children (11 males) presented with suspected or confirmed familial adenomatous polyposis. Two were discharged from follow-up after negative adenomatous polyposis coli gene mutation testing. The rest underwent annual hepatoblastoma surveillance through age ten years with negative findings. Twelve patients presented with symptoms: six had de novo familial adenomatous polyposis. Seven had gastrointestinal hemorrhage and went on to colonoscopy. Four patients with adenomatous polyposis coli gene mutation at codon 1309 were referred for colectomy before age ten years. Referral to colectomy was earlier in patients with 1309 mutation and with de novo familial adenomatous polyposis. Conclusions Children with familial adenomatous polyposis younger than age ten years may present presymptomatically for disease surveillance. Familial adenomatous polyposis with adenomatous polyposis coli gene mutation at codon 1309 entails a risk of a more aggressive phenotype; early colectomy may be indicated in children harboring this gene mutation. Supported in part by the Edna Ittner Research Fund.     

Familial adenomatous polyposis

INTRODUCTION: Duodenal and periampullary cancer is the most common cause of cancer death in patients with familial adenomatous polyposis who have undergone colectomy. Endoscopic surveillance of upper gastrointestinal adenomas is recommended for patients with familial adenomatous polyposis but the timing and appropriate treatment of neoplasms is unknown. The purpose of this experiment was to report our experience with endoscopic and surgical treatment of advanced duodenal adenomas in patients with familial adenomatous polyposis. METHODS: The records of all patients with familial adenomatous polyposis who had undergone surgical or endoscopic treatment for duodenal adenomas were identified. Data including endoscopic surveillance findings, type of intervention, pathology, and follow-up of the lesions were reviewed. RESULTS: Ten neoplasms >1 cm were treated in eight patients (mean age at the time of diagnosis was 49 years). Nine lesions were histologically advanced. Five lesions involved the papilla. Endoscopic treatment was performed for six lesions. Four lesions recurred, and three were then treated surgically. Local resection was performed for five lesions. Four lesions recurred and two had further operative intervention. Pancreas-sparing duodenectomy was performed in three patients. At a mean follow-up period of 45.7 months, there has been no recurrence. CONCLUSIONS: Endoscopic eradication is an appropriate initial treatment for histologically advanced, noncancerous neoplasms or for patients who are not surgical candidates. Pancreas-sparing duodenectomy may be the treatment of choice for patients with carcinoma and those who have failed endoscopic therapy.     

Preoperative and Postoperative Quality of Life in Patients with Familial Adenomatous Polyposis

Purpose  This study was designed to prospectively examine functional outcome, quality of life, and patients’ personal experiences and adjustment to functional changes during the first year after prophylactic surgery. Methods  Twenty-one consecutive patients with familial adenomatous polyposis were examined before proctocolectomy (T0), on ileostomy reversal (T1), and 6 (T2) and 12 months (T3) after surgery by means of standardized questionnaires and interviews. Results  Average physical and mental health declined profoundly after proctocolectomy, followed by a steady improvement after 6 and 12 months. The majority of patients reported the ileostomy period as particularly distressing. After one year, 75 percent of patients reported complete recovery in terms of physical, emotional, and social functioning, whereas one-quarter of patients did not regain their former level of functioning. Despite substantial improvement in pouch functions, functional impairment persists because of frequent bowel movements, resulting mainly in restricted social activities. Ten percent of patients reported impaired sex life, irrespective of gender. Conclusions  The majority of patients with familial adenomatous polyposis were found to adjust favorably to functional impairment while maintaining satisfactory quality of life. Complementing standardized quality of life measures by patients’ personal experiences may help to identify vulnerable patients in need of psychosocial support. Presented at the Consortium for Psychooncology, Cologne, Germany, December 1 to 2, 2005, and at the German Cancer Congress, Berlin, Germany, March 22 to 26, 2006.     

Rare Coincidence of Familial Adenomatous Polyposis and a Retroperitoneal Fibromyxoid Sarcoma: Report of a Case

Purpose Familial adenomatous polyposis is an autosomal-dominant inherited disease with development of as many as thousands of adenomas within colon and rectum. All untreated patients will develop colorectal adenocarcinoma. A variety of extracolonic manifestations can occur, although malignant tumors are rare. An association of familial adenomatous polyposis and sarcomas was reported in a few cases only. Methods We present the exceptional case of a 24-year-old male with genetically verified familial adenomatous polyposis (deletion of 10 base pairs at position 228–237 of exon 15A). The patient underwent prophylactic subtotal proctocolectomy and ileal-pouch rectal anastomosis in 2003. Two years later, an obstruction of the left ureter caused by a retroperitoneal mass was diagnosed. Results Histopathologic findings after complete tumor resection showed a low-grade fibromyxoid sarcoma. CT scan and clinical follow-up through 15 months postoperatively revealed no recurrent tumor growth. Conclusions To our knowledge, this is the first reported case of familial adenomatous polyposis with metachronous retroperitoneal fibromyxoid sarcoma. Proctocolectomy or total colectomy and complete tumor resection is the treatment of choice in this case. In addition to more common semimalignant retroperitoneal desmoid tumors in familial adenomatous polyposis patients, a malignant soft-tissue tumor also has to be considered for differential diagnosis. Presented at the Cancer Congress of Saxony-Anhalt, Magdeburg, Germany, March, 23 to 24, 2007. Reprints are not available.