A Constellation of Rare Gynecological Malignancies and Familial Adenomatous Polyposis Gastrointestinal Adenocarcinoma: A Case Report.

Ovarian microcystic stromal tumors (MST) are a rare subtype of sex-cord stromal tumors. We are presenting a case of a MST arising in a patient with familial adenomatous polyposis (FAP) and concurrent colonic adenocarcinoma. During the patient's workup of an ampullary adenoma associated with her FAP, she was found to have an enlarged uterus with a thickened endometrium and an incidental pelvic mass on the fundus of the uterus. Subsequent imaging identified heterogenous bulky ovaries. This patient underwent surgical resection including a total abdominal hysterectomy, bilateral salpingo-oophorectomy, omentectomy, bilateral pelvic sentinel lymph node biopsy during her planned total proctocolectomy and transduodenal ampullectomy. Extensive histologic and immunohistochemical investigations were completed and the final pathology report revealed a unique compilation of International Federation of Gynecology and Obstetrics Stage II, grade 1 endometrioid endometrial adenocarcinoma, bilateral ovarian MST, a sperate pedunculated mass favoring a diagnosis of uterine tumor resembling ovarian sex cord tumor (UTROSCT), 2 distinct adenocarcinomas of the colon (T2N0 and T1N0) and a tubular adenoma of the ampulla. The pathology showed the endometroid adenocarcinoma was ß-catenin negative while the MST and UTROSCT both showed nuclear positivity with ß-catenin. To our knowledge this is the first reported case of a UTROSCT with concurrent endometrial adenocarcinoma presenting with bilateral ovarian MST's and adenomatous polyposis coli gene positive FAP colon adenocarcinoma.

Use of the Xi robotic platform for total abdominal colectomy: a step forward in minimally invasive colorectal surgery.

BACKGROUND: The use of the da Vinci robotic platform for total colectomy has been limited by the need to reposition the patient-side surgical cart from one side of the patient to the other, which increases operative time. In this study, we examined the feasibility of robotic total colectomy using the da Vinci Xi model, which offers a rotating boom-mounted system and laser-targeted trocar positioning. METHODS: The study cohort consisted of 23 patients who underwent minimally invasive total colectomy for cancer or polyposis syndromes at a comprehensive cancer center between 2015 and 2017. Of the 23 colectomies, 15 were robotic and eight were laparoscopic. For the robotic colectomies, trocars were placed in the supraumbilical region and all four quadrants. The da Vinci Xi robot was placed between the patient's legs, and the boom was rotated from left to right and then to the middle in order to work sequentially on the right colon, the left colon, and the pelvis. Operating time and short-term outcomes were compared between the patients who underwent robotic surgery and the patients who underwent laparoscopic surgery. RESULTS: The two groups of patients were comparable in age, gender, BMI, physical status, and disease types. In the robotic group, median length of stay (4 vs. 6 days, p = 0.047) was significantly shorter and median operative time (243 vs. 263 min, p = 0.97) and median estimated blood loss (50 vs. 100 ml; p = 0.08) were similar between the groups. CONCLUSIONS: With the da Vinci Xi boom-mounted system, total abdominal colectomy can be performed without the need to move the patient-side surgical cart and is associated with shorter length of stay and similar operative time compared to the laparoscopic approach.

The role of the defaecating pouchogram in the assessment of evacuation difficulty after restorative proctocolectomy and pouch-anal anastomosis.

AIM: Restorative proctocolectomy (RPC) with ileal pouch-anal anastomosis (IPAA) is the most frequently performed operation for intractable ulcerative colitis (UC) and for many patients with familial adenomatous polyposis (FAP). It can be complicated by a functional evacuation difficulty, which is not well understood. We aimed to evaluate the role of defaecating pouchography in an attempt to assess the mechanism of evacuation difficulty in pouch patients. METHOD: All RPC patients who had had a defaecating pouchogram for evacuation difficulty at one hospital between 2006 and 2014 were retrospectively reviewed. The findings and features were correlated with the symptoms. Demographic, clinical and radiological variables were analysed. RESULTS: Eighty-seven [55 (63%) female] patients aged 47.6 ± 12.5 years (mean standard ± SD) were identified. Thirty-five had a mechanical outlet obstruction and 52 had no identified mechanical cause to explain the evacuation difficulty. The mean age of these 52 [33 (63%) female] patients was 48.2 ± 13 years. Of these 52 patients, significantly more used anti-diarrhoeal medication (P = 0.029), complained of a high frequency of defaecation (P = 0.005), experienced a longer time to the initiation of defaecation (P = 0.049) and underwent pouchoscopy (P = 0.003). Biofeedback appeared to improve the symptoms in 7 of 16 patients with a nonmechanical defaecatory difficulty. The most common findings on defaecating pouchography included residual barium of more than 33% after an attempted evacuation (46%, n = 24), slow evacuation (35%, n = 18) and mucosal irregularity (33%, n = 17). Correlation between radiological features and symptoms showed a statistically significant relationship between straining, anal pain, incontinence and urgency with patterns of anismus or pelvic floor descent or weakness seen on the defaecating pouchogram. Symptoms of incomplete evacuation, difficulty in the initiation of defaecation, high defaecatory frequency and abdominal pain were not correlated with the radiological features of the pouchogram. CONCLUSION: Defaecating pouchography may be useful for identifying anismus and pelvic floor disorders in pouch patients who have symptoms of straining, anal pain or incontinence. In patients with a high frequency of defaecation and abdominal pain it does not provide clinically meaningful information. Patients who complain of straining, incontinence, anal pain or urgency and have anismus or pelvic floor disorders may benefit from behavioural therapy.

Eviendep® reduces number and size of duodenal polyps in familial adenomatous polyposis patients with ileal pouch-anal anastomosis.

AIM: To evaluate if 3 mo oral supplementation with Eviendep® was able to reduce the number of duodenal polyps in familial adenomatous polyposis (FAP) patients with ileal pouch-anal anastomosis (IPAA). METHODS: Eleven FAP patients with IPAA and duodenal polyps were enrolled. They underwent upper gastrointestinal (GI) endoscopy at the baseline and after 3 mo of treatment. Each patient received 5 mg Eviendep twice a day, at breakfast and dinner time, for 3 mo. Two endoscopists evaluated in a blinded manner the number and size of duodenal polyps. Upper GI endoscopies with biopsies were performed at the baseline (T0) with the assessment of the Spigelman score. Polyps > 10 mm were removed during endoscopy and at the end of the procedure a new Spigelman score was determined (T1). The procedure was repeated 3 mo after the baseline (T2). Four photograms were examined for each patient, at T1 and T2. The examined area was divided into 3 segments: duodenal bulb, second and third portion duodenum. Biopsy specimens were taken from all polyps > 10 mm and from all suspicious ones, defined by the presence of a central depression, irregular surface, or irregular vascular pattern. Histology was classified according to the updated Vienna criteria. RESULTS: At baseline the mean number of duodenal detected polyps was 27.7 and mean sizes were 15.8 mm; the mean Spigelman score was 7.1. After polypectomy the mean number of duodenal detected polyps was 25.7 and mean sizes were 7.6 mm; the mean Spigelman score was 6.4. After 3 mo of Eviendep bid, all patients showed a reduction of number and size of duodenal polyps. The mean number of duodenal polyps was 8 (P = 0.021) and mean size was 4.4 mm; the mean Spigelman score was 6.6. Interrater agreement was measured. Lesions > 1 cm found a very good degree of concordance (kappa 0.851) and a good concordance was as well encountered for smaller lesions (kappa 0.641). CONCLUSION: Our study demonstrated that short-term (90 d) supplementation with Eviendep® in FAP patients with IPAA and with recurrent adenomas in the duodenal mucosa, resulted effective in reducing polyps number of 32% and size of 51%.

Nuclear orphan receptor NR4A2 confers chemoresistance and predicts unfavorable prognosis of colorectal carcinoma patients who received postoperative chemotherapy.

BACKGROUND: NR4A2, an orphan nuclear receptor essential in neuron generation, has been recently linked to inflammatory and metabolic pathways of colorectal carcinoma (CRC). However, the effects of NR4A2 on chemo-resistance and postoperative prognosis of CRC remain unknown. METHODS: NR4A2 was transfected into CRC cells to investigate its effects on chemo-resistance to 5-fluorouracil and oxaliplatin and chemotherapeutics-induced apoptosis. We also investigated prostaglandin E2 (PGE2)-induced NR4A2 expression and its effect on chemo-resistance. Tissue microarrays including 51 adenoma, 14 familial adenomatous polyposis with CRC, 17 stage IV CRC with adjacent mucosa and 682 stage I-III CRC specimens were examined immunohistochemically for NR4A2 expression. Median follow-up time for stage I-III CRC patients was 53 months. RESULTS: Ectopic expression of NR4A2 increased the chemo-resistance, and attenuated the chemotherapeutics-induced apoptosis. Transient treatment of PGE2 significantly up-regulated NR4A2 expression via protein kinase A pathway and increased the chemo-resistance. NR4A2 expression in epithelials consecutively increased from adenoma, adjacent mucosa to CRC (P(trend)<0.001). In multivariate Cox regression analyses, high NR4A2 expression in cancer nuclei (immunoreactive score ≥ 4) significantly predicted a shorter disease-specific survival (DSS) of CRC patients (hazard ratio [HR]=1.88, P=0.024). High NR4A2 expression specifically predicted a shorter DSS of colon cancer patients (dichotomisation, HR=2.55, log-rank test P=0.011), especially for those who received postoperative 5-fluorouracil/leucovorin plus oxaliplatin (FOLFOX) chemotherapy (3-score range, HR=1.86, log-rank test P=0.020). CONCLUSION: High expression of NR4A2 in CRC cells confers chemo-resistance, attenuates chemotherapeutics-induced apoptosis, and predicts unfavorable prognosis of colon cancer patients, especially for those who received postoperative chemotherapy. NR4A2 may be prognostic and predictive for colon cancer.

Considerations and complications in patients undergoing ileal pouch anal anastomosis.

Total proctocolectomy with ileal pouch anal anastomosis (IPAA) preserves fecal continence as an alternative to permanent end ileostomy in select patients with ulcerative colitis and familial adenomatous polyposis. The procedure is technically demanding, and surgical complications may arise. This article outlines both the early and late complications that can occur after IPAA, as well as the workup and management of these potentially morbid conditions.

Macroscopic and histologic regression of duodenal polyposis with FOLFOX4 chemotherapy for an ileal pouch adenocarcinoma in a patient with familial adenomatous polyposis.

Severe (stage IV) duodenal polyposis is difficult to manage in patients with familial adenomatous polyposis (FAP), with no effective medical treatment, complex endoscopic treatment modalities, and a high morbidity and mortality from pancreaticoduodenectomy. We present the case of a 44-year-old woman with FAP, stage IV duodenal polyposis, and with an ileal pouch adenocarcinoma that required surgery and adjuvant chemotherapy. Her duodenal polyposis regressed to stage II after four sessions of FOLFOX4 adjuvant chemotherapy, which avoided the need for aggressive endoscopic therapy or pancreatoduodenectomy in this patient.

Permanent ostomy after ileoanal pouch failure: pouch in situ or pouch excision?

BACKGROUND: The risks and benefits of pouch excision and end ileostomy creation when compared to the alternative option of a permanent diversion with the pouch left in situ when restoration of intestinal continuity is not pursued for patients who develop pouch failure after IPAA have not been well characterized. OBJECTIVE: This study aimed to compare the early and long-term outcomes after permanent diversion with the pouch left in situ vs pouch excision with end ileostomy creation for pouch failure. DESIGN: This study is a retrospective review of prospectively gathered data. SETTINGS: This investigation was conducted at a tertiary center. PATIENTS: Patients with pouch failure who underwent a permanent ileostomy with the pouch left in situ and those who underwent pouch excision were included in the study. MAIN OUTCOME MEASURES: The primary outcomes measured were the perioperative outcomes and quality of life using the pouch and Short Form 12 questionnaires. RESULTS: One hundred thirty-six patients with pouch failure underwent either pouch left in situ (n = 31) or pouch excision (n = 105). Age (p = 0.72), sex (p = 0.72), ASA score (p = 0.22), BMI (p = 0.83), disease duration (p = 0.74), time to surgery for pouch failure (p = 0.053), diagnosis at pouch failure (p = 0.18), and follow-up (p = 0.76) were similar. The predominant reason for pouch failure was septic complications in 15 (48.4%) patients in the pouch left in situ group and 39 (37.1%) patients in the pouch excision group (p = 0.3). Thirty-day complications, including prolonged ileus (p = 0.59), pelvic abscess (p = 1.0), wound infection (p = 1.0), and bowel obstruction (p = 1.0), were similar. At the most recent follow-up (median, 9.9 y), quality of life (p = 0.005) and health (p = 0.008), current energy level (p = 0.026), Cleveland Global Quality of Life score (p = 0.005), and Short Form 12 mental (p = 0.004) and physical (p = 0.014) component scales were significantly higher after pouch excision than after pouch left in situ. Urinary and sexual function was similar between the groups. Anal pain (n = 4) and seepage with pad use (n = 8) were the predominant concerns of the pouch left in situ group on long-term follow-up. None of the 18 patients with pouch in situ, for whom information relating to long-term pouch surveillance was available, developed dysplasia or cancer. LIMITATIONS: This study was limited by its retrospective nature. CONCLUSIONS: Although technically more challenging, pouch excision, rather than pouch left in situ, is the preferable option for patients who develop pouch failure and are not candidates for restoration of intestinal continuity. Because pouch left in situ was not associated with neoplasia, this option is a reasonable intermediate or long-term alternative when pouch excision is not feasible or advisable.

Chemoprevention in familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) predictably leads to adenomas and eventual adenocarcinomas in the lower gastrointestinal tract and less frequently, the upper gastrointestinal tract. Chemopreventive strategies have been studied in FAP patients to delay the development of adenomas in the upper and lower gastrointestinal tract, as well as to prevent recurrence of adenomas in the retained rectum of patients after prophylactic surgery with colectomy and ileorectal anastamosis (IRA). The nonsteroidal anti-inflammatory drug (NSAID) sulindac and selective cyclooxygenase-2 (COX-2) inhibitor celecoxib reduce polyposis of the retained rectum after colectomy with IRA. Reports of cardiovascular risks of some NSAIDs and selective COX-2 inhibitors have led to promising studies of lower doses in combination with ursodeoxycholic acid, statin, and difluoromethylornithine. Curcumin and eicosapentaenoic acid show efficacy in small clinical trials of FAP chemoprevention. This article will review the concept of chemoprevention and the current clinical literature in FAP chemoprevention.

[Familial adenomatous polyposis: a follow-up of the extracolonic manifestations]. / Poliposis adenomatosa familiar: seguimiento de las manifestaciones extracolónicas.

INTRODUCTION: Total colectomy is the only effective treatment for prophylaxis against colon cancer in patients with familial adenomatous polyposis (FAP). We present our experience with 4 children colectomized for FAP, with a particular focus on the long-term surveillance to detect extracolonic manifestations. PATIENTS AND METHODS: We review the clinical histories of 4 patients from 10 to 16-years-old, with family histories of FAP. Performed for each patient were: genetic testing, colonoscopy, double contrast enema, gastro-oesophageal duodenoscopy, thyroid and abdominal ultrasound, fundus oculi, and tumour markers (CEA, CA 19.9). They underwent total colectomy with ileoanal anastomosis and anorectal mucosectomy with an ileal J-pouch. During follow-up, they were monitored regularly with imaging techniques (including a video capsule in one patient) and endoscopy. Also evaluated were faecal continence, food intake, and height-weight development. RESULTS: All had multiple polyps in the colon, and mutation of the APC gene. Hypertrophy of the retinal pigment epithelium was observed in three. Immediately postoperative, there were abundant diarrhoeic stools, two presented an episode of "pouchitis", and one moderate undernourishment. One patient had an intraperitoneal haemorrhage that was resolved by blood transfusion. All 4 have normal faecal continence. During the first months postoperative, two patients showed considerable weight loss. In the follow-up (> 3 years), moderate undernourishment was observed in one patient. Duodenal polyps were found in two patients--in one by duodenoscopy, and in the other with the video capsule. CONCLUSIONS: After colectomy, FAP patients may develop extracolonic clinical manifestations, some of which may be malignant such as thyroid and periampullary cancer. Careful surveillance of these patients is therefore very important, with annual checks using gastroduodenoscopy and thyroid and abdominal ultrasound.

Nutrition considerations surrounding restorative proctocolectomy.

Restorative proctocolectomy with ileal pouch-anal anastomosis has become the surgical treatment of choice for patients with ulcerative colitis and familial polyposis coli syndromes. Pouch construction uses the distal 30-40 cm of ileum, and there exists a potential for postoperative nutrition consequences. These include vitamin B(12) deficiency, iron deficiency, bile acid malabsorption, and abnormalities of trace elements, fluids, and electrolytes. Patients who have undergone an ileal pouch-anal anastomosis procedure often describe specific food sensitivities that may require diet alteration, even more so than do patients with permanent ileostomy. There may be roles for postoperative probiotic supplementation in an attempt to decrease the rate of "pouchitis" and appropriate preoperative nutrition support to minimize the risk of perioperative complications.

Poliposis adenomatosa familiar: seguimiento de las manifestaciones extracolónicas / Familial adenomatous polyposis: a follow-up of the extracolonic manifestations

Introducción. La colectomía total es el único tratamiento eficaz para prevenir el cáncer de colon en pacientes con Poliposis Adenomatosa Familiar (PAF). El objetivo es exponer nuestra experiencia con 4niños colectomizados por PAF con especial atención al seguimiento a largo plazo para la detección de manifestaciones extracolónicas. Pacientes y métodos. Revisamos las historias clínicas de 4 pacientes de entre 10 y 16 años, con antecedentes familiares de PAF. En cada paciente se realiza: estudio genético, colonoscopia, enema de doble contraste, esófago-gastro-duodenoscopia, ecografías abdominal y tiroidea, fondo de ojo y marcadores tumorales (CEA, Ca 19.9). Se les practica (..) (AU)

Introduction. Total colectomy is the only effective treatment for prophylaxis against colon cancer in patients with familial adenomatous polyposis (FAP). We present our experience with 4 children colectomized for FAP, with a particular focus on the long-term surveillance to detect extracolonic manifestations. Patients and methods. We review the clinical histories of 4 patients from 10 to 16 years old, with family histories of FAP. Performed for each patient were: genetic testing, colonoscopy, double contrast enema, gastro-œsophageal duodenoscopy, thyroid and abdominal ultrasound, fundus oculi, and tumour markers (CEA, CA 19.9). They underwent total colectomy with ileoanal anastomosis and anorectal mucosectomy with an ileal J-pouch. During follow-up, they were monitored regularly with imaging techniques (including a video capsule in one patient)and endoscopy. Also evaluated were (..) (AU)

Serum nutrients and habitual dietary intake in colectomized FAP patients in Norway.

BACKGROUND: Patients with familial adenomatous polyposis (FAP) are colectomized in young age in order to avoid development of colorectal cancer. Because colectomy radically changes gastrointestinal physiology, and food avoidance may be present, colectomized patients may be at risk for nutritional deficiency. AIM OF THE STUDY: to evaluate: (1) serum biochemical levels as compared to reference; (2) dietary intake as compared to the recommendations. METHODS: Blood samples, interviews and food frequency questionnaire were collected from 38 colectomized FAP patients with duodenal adenomas (mean age 40 years, range: 24-70). They were recruited from the Norwegian database on FAP. RESULTS: Serum albumin was significantly higher (P < or = 0.0001), and Mg (P = 0.02), ferritin (P < or = 0.001), and cholesterol (P = 0.03) significantly lower, than reference levels. Compared to recommendations, a low intake was seen for folate and fiber (<50%), iron, thiamin, riboflavin (< 25%), and omega-3 fatty acids (8%). Sugar intake exceeded the recommendation, mainly due to a high intake of soft drinks. Food avoidance was reported by 53%. CONCLUSIONS: We would suggest that the nutrient intake among FAP patients should at least meet the recommendations for healthy subjects. Their risk of metachronous cancers should also cause special attention to dietary factors that may prevent nutritional deficiency and carcinogenesis.

Hand-assisted laparoscopic colorectal surgery: an evidence-based review.

Despite its increasing use by practitioners, laparoscopic colorectal surgery remains technically challenging. Hand-assisted laparoscopic colorectal surgery may represent a viable hybrid alternative approach to standard laparoscopy. Although few high-quality studies have been carried out, hand-assistance appears to reduce operative time when compared to straight laparoscopy for both left-sided segmental colonic and total colorectal resections. Moreover, hand-assistance appears to maintain the short-term benefits of laparoscopy, while affording the surgeon with the ability to carry out complex cases in a minimally invasive fashion. Data pertaining to the use of hand-assistance for rectal cancer surgery are currently lacking. One the whole, hand-assisted laparoscopic colorectal surgery appears to be a useful tool for the minimally invasive surgeon, one that is perhaps best thought of as an adjunct to simple laparoscopy.

Assessment of dietary intake and trace element status in patients with ileal pouch-anal anastomosis.

PURPOSE: Panproctocolectomy and ileal pouch-anal anastomosis is the operation of choice for patients with ulcerative colitis and familial polyposis. The long-term nutritional consequences after pouch surgery are unknown. We have assessed the nutritional status of the essential trace elements-zinc, copper, manganese, and selenium-in patients several years (median, 10 (range, 2-15) years) after surgery. METHODS: Fifty-five patients with uncomplicated ileal pouch-anal anastomosis and 46 healthy control subjects were studied. A dietary assessment of trace element intake was undertaken by using a semiquantitative food frequency questionnaire. The patients' trace elements status for zinc, copper, manganese, and selenium was assessed by measuring their concentrations in blood. RESULTS: The dietary intake of individual trace elements was similar in both groups (all P values > 0.4). There was no significant difference in the concentrations of plasma copper, zinc, and selenium between patients and healthy control subjects (all P values > 0.07). The concentration of whole blood manganese was significantly higher (P = 0.004) in patients (median, 178.5 nmol/l; range, 59-478 nmol/l) compared with healthy control subjects (median, 140 nmol/l; range, 53-267 nmol/l). Four (7 percent) patients had manganese concentrations more than three standard deviations of the mean of control group (>255 nmol/l). CONCLUSIONS: This study shows that patients who have had uncomplicated pouch surgery have a normal dietary intake of trace elements and do not develop deficiencies in copper, zinc, manganese, and selenium. However, these patients may be at increased risk of manganese toxicity.

Familial adenomatous polyposis complicated with an invasive colo-rectal adenocarcinoma in a 26-year-old Nigerian male - a rare finding.

Familial adenomatous polyposis is very rare in our environment. This condition occurring with a complication of a colorectal cancer has never been reported to the best of our knowledge. We present a case of a 26-year-old Nigerian man who came to us in February this year with a 10-year history of watery stool, which is also mucoid with tenesmus. There was also associated weight loss and colicky abdominal pains. He had also previously had a previous proctoscopy and rectal biopsy that showed numerous adenomatous polyps with dysplastic changes confirmed by histology. Barium enema revealed multiple polyps up to the right side of the transverse colon. Repeat histology after panproctocolectomy confirmed foci of invasive adenocarcinoma of the colon up to the muscle coat. The patient post-operatively is alive and well.

Current approaches in familial colorectal cancer: a clinical perspective.

Individuals with a family history of colorectal cancer or colorectal adenomas have an increased risk for colorectal cancer. When no hereditary syndrome is evident, screening is based on empiric risk estimates. The risk is greatest for individuals with specific inherited cancer-predisposing disorders. When conditions such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer are diagnosed, specific neoplasm risk estimates can usually be performed based on advances in molecular genetics. These estimates lead to more straightforward and cost-effective approaches to surveillance and management. The National Comprehensive Cancer Center Network (NCCN) and other groups have provided detailed guidelines for evaluating patients based on recognition of clinical syndrome characteristics, followed by appropriate genetic counseling, genetic testing, and optimal surveillance. The NCCN guidelines are used as a frame of reference for this discussion of selected recent advances in human cancer genetics as they apply to clinical practice.

[Treatment of Familial Adenomatous Polyposis and family screening]. / Poliposis familiar: alternativas terapéuticas y estudio de los familiares.

BACKGROUND: To reduce the mortality associated to Familial Adenomatous Polyposis (FAP), screening of close relatives of patients with the disease is crucial. AIM: To analyze the results of the surgical treatment of patients with FAP, and to evaluate the family screening. PATIENTS AND METHODS: Clinical records of patients operated in our institution since 1977, were reviewed analyzing surgical and pathological results, and follow up. In their family members, we evaluated and analyzed the performance of screening tests, former surgeries, history of disease-related cancer and mortality, all due to FAP. RESULTS: Between January 1977 and August 2002, 15 patients were operated on. Of these, only 33% consulted on the setting of a familial screening. A proctocolectomy and terminal ileostomy was performed in 27% of patients; 20% had a proctocolectomy and ileal pouch, and 53% underwent a total colectomy with ileo-rectal anastomosis. Morbidity and mortality were 7% and 0%, respectively. Twenty percent had a colorectal cancer. During a median of 68 months follow-up, the disease-related survival was 92%; no cancer of the rectal stump was detected. Of the 122 family members identified, only 33% with clear indication of screening underwent a colonoscopy. Twenty-nine percent had a confirmed FAP and were operated: in 61% of them a colorectal cancer was found, and 91% of these died. CONCLUSIONS: The results of the surgical treatment of FAP are satisfactory. Nevertheless, family screening should be improved to reduce the high rates of mortality revealed in the study of other family members.

Laparoscopic-assisted vs. open ileal pouch-anal anastomosis: functional outcome in a case-matched series.

PURPOSE: Functional outcomes in laparoscopic-assisted ileal pouch-anal anastomosis have been incompletely studied. More than one-year follow-up has rarely been reported in these patients. This study was designed to assess operative, functional, and quality of life outcomes in patients with ulcerative colitis or familial adenomatous polyposis a minimum of one year after. METHODS: Thirty-three laparoscopic-assisted ileal pouch-anal anastomosis and 33 open ileal pouch-anal anastomosis patients, with a median of 13 months and minimum of 12 months follow-up, were identified from a prospective, laparoscopic database. Functional outcome was prospectively assessed by using a standardized survey. These cohorts were matched by individual patient for year of surgery, age, gender, body mass index, and indication. RESULTS: Median age was 27 years (open) and 28 years (laparoscopic). There were 27 females and 6 males in each group. All operations occurred between 1999 and 2001. Median body mass index was 22.3 (open) and 21.7 (laparoscopic) groups. There were no significant differences in diagnosis, use of diversion, and anastomotic technique. Postoperative morbidity occurred in 6 percent of the laparoscopic cases and 12 percent of the open cases. Functional outcome after a minimum of one year revealed equivalent median day and median nocturnal number of stools of six to seven and one to two respectively. Consistency of stool, medication usage, and continence were no different between groups. Daytime and nocturnal incontinence was similar. Quality of life in regard to social, home life, family, travel, sports, recreation, and sex life were equivalent. CONCLUSIONS: The function and quality of life outcomes for patients undergoing laparoscopic-assisted ileal pouch-anal anastomosis seem to be equivalent to our open experience. Laparoscopic-assisted ileal pouch-anal anastomosis offers selected patients a safe, feasible, and durable alternative.

Poliposis familiar: Alternativas terapéuticas y estudio de los familiares / Treatment of familial adenomatous polyposis and family screening

Background: To reduce the mortality associated to Familial Adenomatous Polyposis (FAP), screening of close relatives of patients with the disease is crucial. Aim: To analyze the results of the surgical treatment of patients with FAP, and to evaluate the family screening. Patients and Methods: Clinical records of patients operated in our institution since 1977, were reviewed analyzing surgical and pathological results, and follow up. In their family members, we evaluated and analyzed the performance of screening tests, former surgeries, history of disease-related cancer and mortality, all due to FAP. Results: Between January 1977 and August 2002, 15 patients were operated on. Of these, only 33 percent consulted on the setting of a familial screening. A proctocolectomy and terminal ileostomy was performed in 27 percent of patients; 20 percent had a proctocolectomy and ileal pouch, and 53 percent underwent a total colectomy with ileo-rectal anastomosis. Morbidity and mortality were 7 percent and 0 percent, respectively. Twenty percent had a colorectal cancer. During a median of 68 months follow-up, the disease-related survival was 92 percent; no cancer of the rectal stump was detected. Of the 122 family members identified, only 33 percent with clear indication of screening underwent a colonoscopy. Twenty-nine percent had a confirmed FAP and were operated: in 61 percent of them a colorectal cancer was found, and 91 percent of these died. Conclusions: The results of the surgical treatment of FAP are satisfactory. Nevertheless, family screening should be improved to reduce the high rates of mortality revealed in the study of other family members (Rev Méd Chile 2005; 133: 1043-50).