Cancer in Patients With Familial Adenomatous Polyposis: A Nationwide Danish Cohort Study With Matched Controls.

BACKGROUND & AIMS: Familial adenomatous polyposis (FAP) is a hereditary disorder that predisposes patients to colorectal cancer (CRC). Prophylactic colectomy has greatly reduced the risk of CRC. However, new associations between FAP and the risk of other cancers have subsequently emerged. In this study, we assessed the risk of specific primary and secondary cancers among patients with FAP compared with matched controls. METHODS: All known patients with FAP up until April 2021 were identified in the nationwide Danish Polyposis Register and paired with 4 unique controls matched by birth year, sex, and postal code. The risk of overall cancers, specific cancer types, and risk of a second primary cancer was assessed and compared with controls. RESULTS: The analysis included 565 patients with FAP and 1890 controls. The overall risk of cancer was significantly higher for patients with FAP than for controls (hazard ratio [HR], 4.12; 95% confidence interval [CI], 3.28-5.17; P < .001). The increased risk was mainly due to CRC (HR, 4.61; 95% CI, 2.58-8.22; P < .001), pancreatic cancer (HR, 6.45; 95% CI, 2.02-20.64; P = .002), and duodenal/small-bowel cancer (HR, 14.49; 95% CI, 1.76-119.47; P = .013), whereas no significant difference was observed for gastric cancer (HR, 3.29; 95% CI, 0.53-20.23; P = .20). Furthermore, the risk of a second primary cancer was significantly higher for patients with FAP (HR, 1.89; 95% CI, 1.02-3.50; P = .042). Between 1980 and 2020, the risk of cancer among patients with FAP decreased by ∼50%. CONCLUSIONS: Despite an absolute reduction in the risk of developing cancer among patients with FAP, the risk remained significantly higher than for the background population due to colorectal, pancreatic, and duodenal/small-bowel cancers.

Stapled Anastomosis Versus Hand-Sewn Anastomosis With Mucosectomy for Ileal Pouch-Anal Anastomosis: A Systematic Review and Meta-analysis of Postoperative Outcomes, Functional Outcomes, and Oncological Safety.

PURPOSE: This systematic review and meta-analysis aimed to compare outcomes between stapled ileal pouch-anal anastomosis (IPAA) and hand-sewn IPAA with mucosectomy in cases of ulcerative colitis and familial adenomatous polyposis. METHODS: This systematic review and meta-analysis was performed according to the Preferred Reporting Items for Systematic Review and Meta-analysis) guidelines 2020 and AMSTAR 2 (Assessing the methodological quality of systematic reviews) guidelines. We included randomized clinical trials (RCTs) and controlled clinical trials (CCTs). Subgroup analysis was performed according to the indication for surgery. RESULTS: The bibliographic research yielded 31 trials: 3 RCTs, 5 prospective clinical trials, and 24 CCTs including 8872 patients: 4871 patients in the stapled group and 4038 in the hand-sewn group. Regarding postoperative outcomes, the stapled group had a lower rate of anastomotic stricture, small bowel obstruction, and ileal pouch failure. There were no differences between the 2 groups in terms of operative time, anastomotic leak, pelvic sepsis, pouchitis, or hospital stay. For functional outcomes, the stapled group was associated with greater outcomes in terms of seepage per day and by night, pad use, night incontinence, resting pressure, and squeeze pressure. There were no differences in stool Frequency per 24h, stool frequency at night, antidiarrheal medication, sexual impotence, or length of the high-pressure zone. There was no difference between the 2 groups in terms of dysplasia and neoplasia. CONCLUSIONS: Compared to hand-sewn anastomosis, stapled ileoanal anastomosis leads to a large reduction in anastomotic stricture, small bowel obstruction, ileal pouch failure, seepage by day and night, pad use, and night incontinence. This may ensure a higher resting pressure and squeeze pressure in manometry evaluation. PROTOCOL REGISTRATION: The protocol was registered at PROSPERO under CRD 42022379880.

Correlation Between the Severity of Adhesions and Desmoid Disease in Patients With Familial Adenomatous Polyposis: A Prospective Cohort Study.

BACKGROUND: Clinical experience teaches that intraperitoneal adhesions are more severe in patients with familial adenomatous polyposis than in patients without it. This impression may come from the common association of familial adenomatous polyposis with desmoid disease. OBJECTIVES: This study aimed to determine whether patients with familial adenomatous polyposis and desmoid disease develop more severe adhesions than those without desmoid disease. DESIGN: Prospectively collected data study. SETTINGS: Hereditary colorectal cancer center in a tertiary referral hospital. PATIENTS: Patients undergoing first reoperative intra-abdominal surgery for familial adenomatous polyposis; controls were those having their initial abdominal surgery. INTERVENTIONS: Surgery and adhesiolysis. MAIN OUTCOME MEASURES: Presence and type of desmoid disease; presence and severity of nondesmoid intraperitoneal adhesions. Where patients had multiple operations, only the first reoperative surgery was chosen. Desmoid disease was noted as reaction (sheet) or mass. Adhesions were graded as none, mild (<10 min for mobilization), average (10-30 min), and severe (>30 min or significant bowel damage). Patients having their first abdominal surgery for familial adenomatous polyposis were used as a control group. RESULTS: A total of 211 patients had no prior surgery; 5% had desmoids and 1% had adhesions. One hundred thirty-seven patients underwent reoperative surgery: 39% had desmoid disease ( p < 0.05 vs no prior surgery), the highest rate being in patients after IPAA (57%), and 45% had severe adhesions ( p < 0.01 vs no prior surgery), worst after Koch pouch (89%), and total proctocolectomy with ileostomy (82%). Thirty-six percent of patients without desmoid disease had severe adhesions. Desmoid reaction was associated with severe adhesions in 47% of cases and desmoid tumors in 66% of cases. LIMITATIONS: Possible limitations include the potential overlap between desmoid adhesions and nondesmoid adhesions and the potential for inaccuracy in defining the time of adhesiolyses. CONCLUSIONS: Familial adenomatous polyposis is associated with severe postoperative adhesions after reoperative abdominal surgery, especially in patients who develop desmoid disease. See Video Abstract . CORRELACIN ENTRE LA GRAVEDAD DE LAS ADHERENCIAS Y LA ENFERMEDAD DESMOIDEA EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR ESTUDIO PROSPECTIVO DE COHORTES: ANTECEDENTES:La experiencia clínica demuestra que las adherencias intraperitoneales son más graves en pacientes con poliposis adenomatosa familiar que en pacientes sin enfermedad desmoidea. Esta impresión puede provenir de la asociación común de poliposis adenomatosa familiar con enfermedad desmoidea.OBJETIVOS:Ver si los pacientes con poliposis adenomatosa familiar y enfermedad desmoidea desarrollan adherencias más graves que aquellos sin enfermedad desmoidea.DISEÑO:Estudio de datos recolectados prospectivamente.AJUSTES:Centro de cáncer colorrectal hereditario en un hospital de referencia terciario.PACIENTES:Pacientes sometidos a una primera cirugía intraabdominal de caracter reoperatorio por poliposis adenomatosa familiar: los controles fueron los que se sometieron a su cirugía abdominal inicial.INTERVENCIONES:Cirugía y adhesiolisis.PRINCIPALES MEDIDAS DE RESULTADO:Presencia y tipo de enfermedad desmoidea; presencia y severidad de adherencias intraperitoneales no desmoideas. Cuando los pacientes tenían múltiples operaciones, solo se eligió la primera cirugía reoperatoria. La enfermedad desmoidea se anotó como reacción (hoja filamentosa) o masa. Las adherencias se calificaron como ninguna, leve (<10 minutos para la movilización), promedio (10 a 30 minutos) y severa (>30 minutos o daño intestinal significativo). Los pacientes sometidos a una primera cirugía abdominal por poliposis adenomatosa familiar se utilizaron como grupo de control.RESULTADOS:211 pacientes no tenían cirugía previa: 5% desmoideos y 1% adherencias. 137 pacientes se sometieron a cirugía reoperatoria: 39% tenía enfermedad desmoidea ( p < 0,05 frente aquellos sin cirugía previa), la tasa más alta se presentó en aquellos pacientes después de una anastomosis ileoanal con reservorio (57%) donde el 45% tenía adherencias graves ( p < 0,01 frente aquellos sin cirugía previa), peores resultados se observaron después de la confección de un reservorio de Koch (89%) y luego de proctocolectomía total con ileostomía (82%). El 36% de los pacientes sin enfermedad desmoidea tenían adherencias graves. La reacción desmoidea se asoció con adherencias graves en el 47% de los casos, y los tumores desmoides se asociaron con adherencias graves en el 66% de los casos.LIMITACIONES:Superposición potencial entre adherencias desmoideas y adherencias no desmoideas. Posible inexactitud en la definición del tiempo de adhesiolisis.CONCLUSIONES:La poliposis adenomatosa familiar se asocia con adherencias postoperatorias graves después de una cirugía abdominal reoperatoria, especialmente en pacientes que desarrollan enfermedad desmoidea. (Traducción-Dr. Xavier Delgadillo ).

Risk of Proctectomy After Ileorectal Anastomosis in Familial Adenomatous Polyposis in the Modern Era.

BACKGROUND: Prophylactic surgery for familial adenomatous polyposis has evolved over several decades. Restorative proctocolectomy with IPAA provides an alternative to total abdominal colectomy with ileorectal anastomosis. We have previously shown that the rate of proctectomy and rectal cancer after total abdominal colectomy with ileorectal anastomosis in the "pre-pouch era" was 32% and 13%, respectively. OBJECTIVE: To determine the rate of proctectomy and rectal cancer among familial adenomatous polyposis patients and relative rectal sparing (fewer than 20 rectal polyps) selected for total abdominal colectomy with ileorectal anastomosis in the modern era. DESIGN: Retrospective cohort study. SETTING: Single tertiary care institution with a hereditary colorectal cancer registry. PATIENTS: Patients with familial adenomatous polyposis who underwent total abdominal colectomy with ileorectal anastomosis between 1993 and 2020. MAIN OUTCOME MEASURES: Incidence of proctectomy for any indication and rectal cancer. RESULTS: A total of 197 patients with a median age of 24 years (range, 10-67) were included. The median follow-up after total abdominal colectomy with ileorectal anastomosis was 13 years (interquartile range, 6-17). Sixteen patients (8%) underwent proctectomy. Indications included rectal cancer in 6 patients (3%; 2 stage I and 4 stage III), polyps with high-grade dysplasia in 4 (2%), progressive polyp burden in 3 (1.5%), defecatory dysfunction in 2 (1%), and anastomotic leak in 1 (0.5%). Among 30 patients (18%) with 20 or more rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis, 8 patients (26%) underwent proctectomy and 3 patients developed rectal cancer (10%). Among 134 patients (82%) with fewer than 20 polyps, 8 patients (6%) underwent proctectomy and 3 patients developed rectal cancer (2%). Number of rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis was associated with the likelihood of proctectomy (OR 1.1, p < 0.001) but not incident rectal cancer ( p = 0.3). LIMITATION: Retrospective data collection. CONCLUSIONS: Patients with familial adenomatous polyposis selected for total abdominal colectomy with ileorectal anastomosis by rectal polyp number have low rates of proctectomy and rectal cancer compared to historical controls. With appropriate selection criteria and surveillance, total abdominal colectomy with ileorectal anastomosis remains an important and safe treatment option for patients with familial adenomatous polyposis. See Video Abstract . RIESGO DE PROCTECTOMA DESPUS DE ANASTOMOSIS ILEORRECTAL EN POLIPOSIS ADENOMATOSA FAMILIAR EN LA ERA MODERNA: ANTECEDENTES:La cirugía profiláctica para la poliposis adenomatosa familiar (PAF) ha evolucionado durante varias décadas. La proctocolectomía restauradora con anastomosis anal con bolsa ileal (IPAA) proporciona una alternativa a la colectomía abdominal total con anastomosis ileorrectal (TAC/IRA). Anteriormente hemos demostrado que la tasa de proctectomía y cáncer de recto después de TAC/IRA en la era "pre-bolsa" era del 32% y el 13%, respectivamente.OBJETIVO:Determinar la tasa de proctectomía y cáncer de recto entre pacientes con PAF y pacientes con preservación rectal relativa (<20 pólipos rectales) seleccionados para TAC/IRA en la era moderna.DISEÑO:Estudio de cohorte retrospectivo.ÁMBITO:Institución única de atención terciaria con un registro de cáncer colorrectal hereditario.PACIENTES:Pacientes con PAF que se sometieron a TAC/IRA entre 1993 y 2020.MEDIDAS DE RESULTADO PRINCIPALES:Incidencia de proctectomía por cualquier indicación y cáncer de recto.RESULTADOS:Se incluyeron 197 pacientes con una mediana de edad de 24 años (rango 10-67). La mediana de seguimiento tras TAC/IRA fue de 13 años (RIC 6-17). 16 pacientes (8%) fueron sometidos a proctectomía. Las indicaciones incluyeron cáncer de recto en 6 (3%) (2 en estadio I y 4 en estadio III); pólipos con displasia de alto grado en 4 (2%); carga progresiva de pólipos en 3 (1,5%), disfunción defecatoria en 2 (1%); y fuga anastomótica en 1 (0,5%). Entre 30 pacientes (18%) con ≥20 pólipos rectales en el momento de TAC/IRA, 8 pacientes (26%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (10%). Entre 134 pacientes (82%) con <20 pólipos, 8 pacientes (6%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (2%). El número de pólipos rectales en el momento de TAC/IRA se asoció con la probabilidad de proctectomía (OR 1,1, p <0,001), pero no con la incidencia de cáncer de recto (p = 0,3).LIMITACIÓN:Recopilación de datos retrospectivos.CONCLUSIÓN:Los pacientes con PAF seleccionados para TAC/IRA por el número de pólipos rectales tienen tasas bajas de proctectomía y cáncer de recto en comparación con los controles históricos. Con criterios de selección y vigilancia adecuados, TAC/IRA sigue siendo una opción de tratamiento importante y segura para los pacientes con PAF. (Pre-proofed version ).

Histopathological Evaluation of Pouch Neoplasia in IBD and Familial Adenomatous Polyposis.

BACKGROUND: IPAA is often required for patients with ulcerative colitis or familial adenomatous polyposis after colectomy. This procedure reduces but does not completely eliminate the risk of neoplasia. OBJECTIVE: This study focuses on the histopathology of neoplasia in the ileal pouch, rectal cuff, and anal transition zone. DATA SOURCES: We performed a MEDLINE search for English-language studies published between 1981 and 2022 using the PubMed search engine. The terms "ileal pouch-anal anastomosis," "pouchitis," "pouch dysplasia," "pouch lymphoma," "pouch squamous cell carcinoma," "pouch adenocarcinoma," "pouch neoplasia," "dysplasia of rectal cuff," and "colitis-associated dysplasia" were used. STUDY SELECTION: Human studies of neoplasia occurring in the pouch and para-pouch were selected, and the full text was reviewed. Comparisons were made within and across studies, with key concepts selected for inclusion in this article. CONCLUSIONS: Neoplasia in the pouch is a rare complication in patients with IPAA. Annual endoscopic surveillance is recommended for familial adenomatous polyposis patients and ulcerative colitis patients with a history of prior dysplasia or carcinoma. In familial adenomatous polyposis, dysplastic polyps of the pouch are visible and readily amenable to endoscopic removal; however, glandular dysplasia in the setting of ulcerative colitis may be invisible on endoscopy. Therefore, random biopsies and adequate tissue sampling of the pouch and rectal cuff are recommended in this setting. The histological diagnosis of IBD-associated dysplasia can be challenging and should be confirmed by at least 1 expert GI pathologist. See video from the symposium.

Diagnosis and Treatment of Pouch Disorders in Children: A Systematic Review.

BACKGROUND: Restorative proctocolectomy and IPAA have become the surgical procedure of choice in pediatric patients with medically refractory colitis or familial adenomatous polyposis. OBJECTIVE: This systematic review aims to assess the diagnosis and treatment of pouch disorders in pediatric patients who undergo IPAA. DATA SOURCES: A literature search was performed using MEDLINE, Google Scholar, and Embase for all publications describing outcomes of pediatric IPAA. STUDY SELECTION: Studies between January 1, 2000, and September 7, 2022, published in English were included. Studies were excluded on the basis of title, abstract, and full-length review. INTERVENTIONS: IPAA. MAIN OUTCOME MEASURES: Pouch disorders described include anastomotic leaks, pouch strictures, pouch failure, pouchitis, cuffitis, and de novo Crohn's disease of the pouch. RESULTS: Thirty-three studies were included in this review, all of which were retrospective in nature. The outcomes of 2643 pediatric patients were included in the 33 studies. LIMITATIONS: Management is largely informed by clinical practices in adult patients with scant data on treatment efficacy in children. CONCLUSIONS: The reported incidence of disorders of the pouch in children varies widely and is likely attributable to differences in definitions and follow-up periods across studies. Pouchitis was the most frequently described outcome. The overall rate of pouch failure in children is relatively low, with de novo Crohn's disease of the pouch being the most significant risk factor. Multicenter prospective studies are needed in the pediatric population to accurately identify risk factors, standardize the assessment of pouch complications, and determine effective treatment strategies. See video from the symposium .

Long-term prognosis after stapled and hand-sewn ileal pouch-anal anastomoses for familial adenomatous polyposis: a multicenter retrospective study.

PURPOSE: The long-term prognosis of stapled and hand-sewn ileal pouch-anal anastomoses in familial adenomatous polyposis patients in Japan remains unknown. This study aimed to compare the overall survival in familial adenomatous polyposis patients who underwent stapled or hand-sewn ileal pouch-anal anastomosis. METHODS: This multicenter retrospective study was conducted at 12 institutions in Shizuoka Prefecture, Japan. The clinical outcomes of 53 eligible familial adenomatous polyposis patients who underwent stapled (n = 24) and hand-sewn (n = 29) ileal pouch-anal anastomosis were compared. RESULTS: The median follow-up duration was 171.5 months. The incidence of adenoma in the remnant rectum or anal transitional zone and metachronous rectal cancer was significantly more common in stapled ileal pouch-anal anastomosis (adenoma: stapled, 45.8%, vs. hand-sewn, 10.3%, p = 0.005; metachronous rectal cancer: 29.2%, vs. none, p = 0.002). The number of deaths was remarkably higher in stapled ileal pouch-anal anastomosis (p = 0.002). Metachronous rectal cancer was the most common cause of death. Overall survival was worse in stapled ileal pouch-anal anastomosis than in hand-sewn ileal pouch-anal anastomosis (120 months, 90.7% vs. 96.6%; 240 months, 63.7% vs. 96.6%; p = 0.044). Cox regression analysis revealed the independent effects of preoperative advanced colorectal cancer and stapled ileal pouch-anal anastomosis on overall survival. CONCLUSION: Stapled ileal pouch-anal anastomosis negatively affected the overall survival of familial adenomatous polyposis patients. Therefore, hand-sewn ileal pouch-anal anastomosis is recommended for better prognosis in these patients.

[Development of Cancer of the Remnant Colorectal Segment after Ileal-Pouch Anal Anastomosis/Ileorectal Anastomosis in Patients with Familial Adenomatous Polyposis].

PURPOSE: This retrospective study was performed to investigate the recent trend of occurrence of cancer of the remnant colorectal segment(RCRS)after ileal-pouch anal anastomosis(IPAA)/ileorectal anastomosis(IRA)and to consider the optimal surveillance methods in patients with familial adenomatous polyposis(FAP)undergoing(procto)colectomy. PATIENTS AND METHODS: The subject was a total of patients with FAP undergoing IPAA or IRA between 2005 and 2022. Clinicopathological data were extracted from medical charts and analyzed. Cumulative incidence of cancer in the RCRS and overall survival after treatment of such tumors were calculated by the Kaplan-Meier method. RESULTS: There were 45 male and 56 female. IPAA was performed in 49 patients(hand-sewn; n=33, stapled; n=16)and IRA was performed in 52 patients. The median age at initial colorectal surgery was 32 years old(range, 13-66 years old). Median postoperative follow-up was 11 years(range, 1-48 years). Eighty-one patients were confirmed to have pathogenic variant of APC by genetic test. The cumulative incidence of cancer of the RCRS did not differ between patients undergoing IPAA and those undergoing IRA(p= 0.73, 4.1% versus 1.9% at 10 years). The cumulative 5-year overall survival rate after additional surgery for the tumor of RCRS was 82%. CONCLUSION: This study has several limitations due to single institutional retrospective study with small cases and non-standardized postoperative endoscopic surveillance. However, our results seem to show satisfactory oncological outcomes of patients with FAP in terms of the control of cancer of the RCRS under postoperative periodic surveillance, regardless of the type of colorectal resection.

[A Case of Desmoid-Type Fibromatosis of the Mesentery of Small Intestine].

Desmoid-type fibromatosis is a relatively rare disease, often associated with familial adenomatous polyposis and a history of abdominal surgery. A 43-year-old male patient presented with abdominal pain and contrast-enhanced CT showed a mass in the lower abdomen. The mass was a 4×4×3 cm white, dense tumor with a wreath-like arrangement of eosinophilic spindle-shaped cells. Immunostaining showed KIT(-), CD34(-), desmin(-), ß-catenin(+), SMA(few+), and the diagnosis was desmoid-type fibrosis. Six months after surgery, there was no apparent recurrence.

Updates in endoscopic management of ampullary and duodenal adenomas.

PURPOSE OF REVIEW: Adenomas are the most common benign lesions of the gastrointestinal tract. The current review aims to summarize recent literature regarding risk factors, natural history, diagnostic and staging technique, and management strategies for ampullary and nonampullary duodenal adenomas. RECENT FINDINGS: Recent studies identified several possible risks factors for duodenal adenomas (e.g., cholecystectomy, proton pump inhibitor use), although these associations require corroboration. Chromoendoscopy and endocystoscopy may offer accuracy comparable to biopsies in expert hands. Recent publications underscore the reduction in morbidity with endoscopic resection for lesions without signs of malignancy with submucosal invasion. Submucosal injection did not improve safety of endoscopic ampullectomy. SUMMARY: Surveillance may be a reasonable strategy for sub-centimeter ampullary adenomas occurring in familial adenomatous polyposis, as they carry a relatively low risk of malignancy. Endoscopic resection is the preferred strategy over surgery in patients without lesions suggestive of invasive malignancy. For nonampullary duodenal adenomas, several endoscopic resection techniques are available, each with their unique advantages and trade-offs. In patients who are not operative candidates but have intraductal extension, endoscopic ablation is an emerging option.

Development of ileal adenomas after ileal pouch-anal anastomosis versus end ileostomy in patients with familial adenomatous polyposis.

BACKGROUND AND AIMS: Patients with familial adenomatous polyposis (FAP) undergo (procto)colectomy to prevent colorectal cancer from developing. Interestingly, after proctocolectomy with ileal pouch-anal anastomosis (IPAA), most patients develop adenomas in the pouch. This is not well described for patients with end ileostomy. We aimed to compare ileal adenoma development in patients with IPAA with those with end ileostomy. METHODS: This historical cohort study included FAP patients with IPAA or end ileostomy who underwent surveillance endoscopies between 2001 and 2021. Primary outcomes were the proportion of patients with ileal adenomas, location of adenomas, and proportion of patients undergoing surgical excision of pouch/end ileostomy. RESULTS: Overall, 144 patients with IPAA (n = 111) and end ileostomy (n = 33) were included. Five years after surgery, 15% of patients with IPAA had ileal adenomas versus 4% after ileostomy. At 10 years, these estimates were 48% versus 9% and at 20 years were 85% versus 43% (log-rank P < .001). Adenomas developed more often in the pouch body (95%) in the IPAA group and more often at the everted site of the ileostomy (77%) in the ileostomy group. Numbers for surgical excision of the pouch (n = 9) or ileostomy (n = 3) for polyposis or cancer were comparable. Taking into account potential confounders in a multivariable Cox regression analysis, having an IPAA was significantly associated with ileal adenoma development. CONCLUSIONS: After proctocolectomy, FAP patients with IPAA more often developed ileal adenomas than patients with end ileostomy. This could potentially affect long-term management, and patients with end ileostomy might benefit from less-frequent endoscopic surveillance.

Efficacy and safety of intensive downstaging polypectomy (IDP) for multiple duodenal adenomas in patients with familial adenomatous polyposis: a prospective cohort study.

BACKGROUND: Patients with familial adenomatous polyposis (FAP) risk developing multiple duodenal adenomas (MDAs), leading to duodenal cancer and death. We investigated the efficacy and safety of intensive downstaging polypectomy (IDP) for MDAs integrated with new-generation procedures. METHODS: This prospective phase II study, conducted at a tertiary cancer center, enrolled patients with FAP who had MDAs. We performed IDP including cold snare/forceps polypectomy (CSP/CFP) and underwater endoscopic mucosal resection (UEMR). The primary end point was the downstaging of Spigelman stage at 1-year follow-up. RESULTS: 2424 duodenal polyps in 58 patients with FAP underwent IDP, including 2413 CSPs in 57 patients, seven CFPs in one patient, and four UEMRs in four patients. Only one major adverse event was observed (grade 3 hyperamylasemia) without clinical manifestations. We performed additional UEMR, CSP, and CFP for one, 12, and 22 patients, respectively, during initial follow-up. Overall, 55 patients completed protocol examination; the Spigelman stage was significantly reduced at the 1-year follow-up endoscopy (P < 0.001), with downstaging observed in 39 patients (71 %). Among the 26 patients with Spigelman stage IV at initial examination and protocol completion, 23 (88 %) showed downstaging. There was no major change in Spigelman stages from 1-year follow-up esophagogastroduodenoscopy to a median of 37 months (range 3-56). CONCLUSIONS: IDP, including new-generation procedures, showed significant downstaging with acceptable adverse events for MDA in patients with FAP, even those with advanced-stage disease. Lesion selection for different resection techniques may be important for suitable and sustainable management of MDA in patients with FAP.

Intensive endoscopic resection for downstaging of polyp burden in patients with familial adenomatous polyposis (J-FAPP Study III): a multicenter prospective interventional study.

BACKGROUND: Total colectomy is the standard treatment for familial adenomatous polyposis (FAP). Recently, an increasing number of young patients with FAP have requested the postponement of surgery or have refused to undergo surgery. We aimed to evaluate the effectiveness of intensive endoscopic removal for downstaging of polyp burden (IDP) in FAP. METHOD: A single-arm intervention study was conducted at 22 facilities. Participants were patients with FAP, aged ≥ 16 years, who had not undergone colectomy or who had undergone colectomy but had ≥ 10 cm of large intestine remaining. For IDP, colorectal polyps of ≥ 10 mm were removed, followed by polyps of ≥ 5 mm. The primary end point was the presence/absence of colectomy during a 5-year intervention period. RESULTS: 222 patients were eligible, of whom 166 had not undergone colectomy, 46 had undergone subtotal colectomy with ileorectal anastomosis, and 10 had undergone partial resection of the large intestine. During the intervention period, five patients (2.3 %, 95 % confidence interval [CI] 0.74 %-5.18 %) underwent colectomy, and three patients died. Completion of the 5-year intervention period without colectomy was confirmed in 150 /166 patients who had not undergone colectomy (90.4 %, 95 %CI 84.8 %-94.4 %) and in 47 /56 patients who had previously undergone colectomy (83.9 %, 95 %CI 71.7 %-92.4 %). CONCLUSION: IDP in patients with mild-to-moderate FAP could have the potential to be a useful means of preventing colorectal cancer without implementing colectomy. However, if the IDP protocol was proposed during a much longer term, it may not preclude the possibility that a large proportion of colectomies may still need to be performed.

Endoscopic papillectomy for ampullary lesions in patients with familial adenomatous polyposis compared with sporadic lesions: a propensity score-matched cohort.

BACKGROUND: Familial adenomatous polyposis (FAP) is a rare inherited syndrome that predisposes the patient to cancer. Treatment of FAP-related ampullary lesions is challenging and the role of endoscopic papillectomy has not been elucidated. We retrospectively analyzed the outcomes of endoscopic papillectomy in matched cohorts of FAP-related and sporadic ampullary lesions (SALs). METHODS: This retrospective multicenter study included 1422 endoscopic papillectomy procedures. Propensity score matching including age, sex, comorbidity, histologic subtype, and size was performed. Main outcomes were complete resection (R0), technical success, complications, and recurrence. RESULTS: Propensity score matching identified 202 patients (101 FAP, 101 SAL) with comparable baseline characteristics. FAP patients were mainly asymptomatic (79.2 % [95 %CI 71.2-87.3] vs. 46.5 % [95 %CI 36.6-56.4]); P < 0.001). The initial R0 rate was significantly lower in FAP patients (63.4 % [95 %CI 53.8-72.9] vs. 83.2 % [95 %CI 75.8-90.6]; P = 0.001). After repeated interventions (mean 1.30 per patient), R0 was comparable (FAP 93.1 % [95 %CI 88.0-98.1] vs. SAL 97.0 % [95 %CI 93.7-100]; P = 0.19). Adverse events occurred in 28.7 %. Pancreatitis and bleeding were the most common adverse events in both groups. Severe adverse events were rare (3.5 %). Overall, 21 FAP patients (20.8 % [95 %CI 12.7-28.8]) and 16 SAL patients (15.8 % [95 %CI 8.6-23.1]; P = 0.36) had recurrence. Recurrences occurred later in FAP patients (25 [95 %CI 18.3-31.7] vs. 2 [95 %CI CI 0.06-3.9] months). CONCLUSIONS: Endoscopic papillectomy was safe and effective in FAP-related ampullary lesions. Criteria for endoscopic resection of ampullary lesions can be extended to FAP patients. FAP patients have a lifetime risk of relapse even after complete resection, and require long-time surveillance.

The Cumulative Incidence and Progression of Ileal Pouch Adenomas in Patients With Familial Adenomatous Polyposis.

BACKGROUND: Patients with familial adenomatous polyposis who have undergone restorative proctocolectomy can develop adenomas in the pouch. OBJECTIVE: To review experience with pouch surveillance and create a classification system for polyposis severity. DESIGN: A retrospective review of patients undergoing IPAA and follow-up at 1 institution. SETTING: A center for hereditary colorectal cancer within a quaternary referral center. PATIENTS: All patients undergoing IPAA and followed endoscopically after surgery by the center. INTERVENTIONS: Yearly pouchoscopy and treatment of polyps as required. MAIN OUTCOME MEASURES: Primary outcome measure was incidence and severity of pouch neoplasia and its changes with time. METHODS: A retrospective study of patients who had a restorative proctocolectomy for familial adenomatous polyposis at Cleveland Clinic. Severity of polyposis was classified on the basis of size, number, and histology. RESULTS: One hundred sixty-five patients were analyzed. The median age at IPAA was 31 years and 52% were male. The median follow-up was 10.1 years; the median number of pouchoscopies per patient was 4. The median interval between pouchoscopies was 21.9 months. Overall, the incidence of pouch adenomas was found in 47 patients (28.5%). The median time from pouch to first pouch adenoma diagnosis was 10.3 years. The estimated cumulative incidence rates of pouch adenoma at 5, 10, 15, 20, and 30 years after IPAA were 5.9%, 21.7%, 40%, 54.8%, and 69.9%, respectively. At the first diagnosis of pouch adenoma, 25 patients had stage 1, 10 had stage 2, 8 had stage 3, and 4 had stage 4. Twenty of 47 patients progressed to a higher stage. No patient developed cancer. LIMITATIONS: Genotype was not available for all patients. CONCLUSIONS: There is an increasing incidence of pouch neoplasia after restorative proctocolectomy, reaching a plateau at 25 years. The polyposis is usually mild but sometimes increases in severity. LA INCIDENCIA ACUMULADA Y LA PROGRESIN DE LOS ADENOMAS DE LA BOLSA ILEAL EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR: ANTECEDENTES:Los pacientes con poliposis adenomatosa familiar que se han sometido a una proctocolectomía restauradora pueden desarrollar adenomas en la bolsa.OBJETIVO:Revisamos nuestra experiencia con la vigilancia de la bolsa y creamos un sistema de clasificación para la gravedad de la poliposis.DISEÑO:Una revisión retrospectiva de pacientes sometidos a anastomosis de bolsa ileoanal y seguimiento en una institución.ESCENARIO:Un centro para el cáncer colorrectal hereditario dentro de un centro de referencia cuaternarioPACIENTES:Todos los pacientes sometidos a anastomosis reservorio ileoanal y seguidos por vía endoscópica tras la cirugía por el centro.INTERVENCIONES:Bolsascopia anual y tratamiento de pólipos según sea necesarioPRINCIPALES MEDIDAS DE RESULTADO:Primaria: Incidencia y gravedad de la neoplasia del reservorio y sus cambios con el tiempo.MÉTODOS:Un estudio retrospectivo de pacientes que se sometieron a una proctocolectomía restauradora por poliposis adenomatosa familiar en la Clínica Cleveland. La gravedad de la poliposis se clasificó según el tamaño, el número y la histología.RESULTADOS:Se analizaron 165 pacientes. La mediana de edad del IPAA fue de 31 años y el 52% eran hombres. La mediana de seguimiento fue de 10,1 años; número medio de reservorioscopias por paciente = 4. El intervalo medio entre reservorioscopias fue de 21,9 meses. Incidencia global de adenomas de reservorio = 47/165 (28,5%). Tiempo mediano desde el reservorio hasta el primer diagnóstico de adenoma en reservorio = 10,3 años. La tasa de incidencia acumulada estimada de adenoma de bolsa a los 5, 10, 15, 20, y 30 años después de la IPAA es del 5,9%, 21,7%, 40%, 54,8%, y 69,9%, respectivamente. En el primer diagnóstico de adenoma de la bolsa, 25 pacientes tenían estadio 1, 10 estadio 2, 8 estadio 3 y 4 estadio 4. 20/47 pacientes progresaron a un estadio superior Ningún paciente desarrolló cáncer.LIMITACIONES:Genotipo no disponible para todos los pacientesCONCLUSIONES:Hay una incidencia creciente de neoplasia de la bolsa después de la proctocolectomía restauradora, alcanzando una meseta a los 25 años. La poliposis suele ser leve, pero a veces aumenta en severidad. (Traducción-Dr. Yesenia Rojas-Khalil ).

Incidental cancer in colectomy specimens from patients with familial adenomatous polyposis: single centre experience and literature review.

BACKGROUND: Since cancer development is inevitable in patients with familial adenomatous polyposis (FAP), we aimed to determine the incidence of incidental malignancy in prophylactic colectomy specimens. METHODS: The files of patients who underwent prophylactic surgery for FAP between 2010 and 2020 were retrospectively reviewed. The incidence of incidental malignancy in histopathological specimens was examined and a comprehensive literature review was made. RESULTS: Fifty-five patients were included in the study, of whom 30 patients had a diagnosis of primary malignancy. Prophylactic colectomy was performed on 25 patients. The pathology results indicated that the specimens were benign in 12 patients (48%) and revealed carcinoma in situ in 11 patients (44%). Incidental malignancy was detected in 2 patients (8%). In the literature review, there were 243 patients who underwent prophylactic colectomy and incidental cancer was detected in 25 patients (10.3%) with the stages of 1 (7.4%), 2 (2.1%), and 3 (0.8%), respectively. CONCLUSIONS: Incidental cancer is not rare in patients who have undergone prophylactic colectomy for FAP. Hopefully. they are usually at early stages and unexpected advanced cancers are seen rarely.

Quality of life after prophylactic surgery for colorectal adenomatous polyposis.

PURPOSE: Colorectal adenomatous polyposis is characterized by the onset of tens to thousands of adenomas in the colorectal epithelium and, if not treated, leads to a lifetime increased risk of developing colorectal cancer compared to the general population. Thus, prophylactic surgery is recommended. This study aims to investigate the quality of life of colorectal adenomatous polyposis patients following prophylactic surgery and indirectly compares these findings with those of healthy adults of the normative sample. METHODS: All patients who underwent prophylactic surgery for polyposis and were in follow-up at the hereditary digestive tract tumors outpatient department of our institute were eligible for the study. The Short Form-36 questionnaire and 21 ad hoc items were used at the time of clinical evaluation. RESULTS: A total of 102 patients were enrolled. For the SF-36 domains, mean values ranged from 64.18 for vitality to 88.49 for physical functioning, with the highest variability for role-physical limitations; the minimum value of functioning was reached for role-physical limitations, role-emotional limitations, and social functioning. The maximum value of functioning was reached for role-emotional limitations (73.96%) and role-physical limitations (60.42%). In total, 48.96% and 90.63% of patients reported no fecal or urinary incontinence episodes, respectively; 69.79% of patients did not have problems in work/school resumption or the personal sexual sphere. CONCLUSION: Quality of life following prophylactic surgery for these patients seems to be good when indirectly compared to HP-normative samples'. Young adult patients appear to quickly manage and adapt to changes in bowel functioning. A minority of patients may experience social and sexual issues.

Intensive endoscopic resection strategy for multiple duodenal polyposis associated with familial adenomatous polyposis.

BACKGROUND AND AIM: Multiple duodenal polyposis associated with familial adenomatous polyposis (FAP) is a high risk of duodenal cancer development. We evaluated the feasibility of intensive endoscopic resection that is a comprehensive treatment strategy combining multiple kinds of endoscopic treatments. METHODS: This is a retrospective observational study. From January 2012 to July 2022, a total of 28 consecutive patients in FAP who underwent endoscopic resection for multiple duodenal polyposis more than twice were included. Various endoscopic treatments, such as cold polypectomy (CP), endoscopic mucosal resection (EMR), underwater EMR (UEMR), endoscopic submucosal dissection (ESD), and endoscopic papillectomy (EP), were applied depending on lesions size and location. We evaluated individual information from patients' medical records, including patient characteristics, lesion characteristics, details of endoscopic treatment, pathologic findings, and Spigelman index (SI). We compared the differences in the number of treatments and observation periods with and without SI decrease. RESULTS: A total of 1040 lesions were removed by 138 sessions of endoscopic resections. The median follow-up period was 3.2 years. At the beginning of the endoscopic intervention, median SI was 9 (6-11) and the proportion of Spigelman stage (SS) IV was 61%. Repeated endoscopic treatments finally reduced SI in 26 patients (93%), and the proportion of SS IV significantly decreased to 13% with every endoscopic treatment. The mean SI change was -4.2 points per year (95% confidence interval: -0.6 to -5.9). There were no patients required surgical duodenectomy during the follow-up period. CONCLUSION: Intensive resection has a potential of downstaging duodenal lesions associated with FAP.

Temporal changes in functional outcomes of stapled and hand-sewn ileal pouch-anal anastomosis for ulcerative colitis and familial adenomatous polyposis.

AIM: Little is known about how ileal pouch-anal anastomosis (IPAA) influences anorectal manometric data. This study aimed to clarify temporal changes in anorectal manometric data and faecal incontinence in IPAA. METHODS: We examined 32 patients with ulcerative colitis (UC) or familial adenomatous polyposis (FAP) undergoing restorative proctocolectomy with stapled or hand-sewn IPAA. Maximum resting pressure (MRP) and maximum squeezing pressure (MSP) were analysed before and 1-3, 6-9, and 12-24 months after IPAA. Cleveland Clinic Florida-Faecal Incontinence Score (CCF-FIS) was measured 6-9 and 12-24 months after IPAA. RESULTS: Fourteen patients underwent stapled IPAA and 18 patients underwent hand-sewn IPAA. MRP decreased 1-3 months after stapled IPAA (median: 42.3 mmHg vs. 60.0 mmHg at preoperative value, p = 0.039), but recovered afterwards. In hand-sewn IPAA, the median MRP decreased to 29.5 mmHg at 1-3 months after IPAA (baseline: 64.8 mmHg, p < 0.0001), and remained unchanged thereafter. Stapled IPAA did not affect MSP; however, hand-sewn IPAA caused a reduction in the median MSP from 191.3 mmHg to 141.3 mmHg at 1-3 months (p = 0.035), which gradually increased afterwards. The median CCFFIS was 5.5 points at 6-9 months and 2 points at 12-24 months after stapled IPAA. The score was high (11 points) at 6-9 months but decreased to 5 points at 12-24 months after hand-sewn IPAA (p = 0.022). CONCLUSION: We present time trends in functional outcomes of IPAA. MRP showed a transient decrease after stapled IPAA, whereas it remained low after hand-sewn IPAA. CCFFIS was high only at 6-9 months after hand-sewn IPAA.

Mucosectomy of the anal canal via transanal minimally invasive surgery combined with transanal total mesorectal excision for familial adenomatous polyposis: A technical note.

AIM: Total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the standard surgical treatment modality for familial adenomatous polyposis (FAP). It is challenging to perform proctectomy and preserve anal sphincter function. In this video, precise mucosectomy of the anal canal via transanal minimally invasive surgery (MAC-TAMIS) is reported. METHODS: An asymptomatic 35-year-old man was found to have a positive faecal occult blood test in routine screening examination and was diagnosed with FAP on colonoscopic examination. The patient was scheduled for total proctocolectomy with IPAA using the TAMIS approach combined with transanal total mesorectal excision. MAC-TAMIS was performed to preserve the internal anal sphincter during laparoscopy. RESULTS: The total duration of surgery was 543 min, blood loss was minimal, and the postoperative course was uneventful. The postoperative hospital stay was 12 days. The pathological findings demonstrated no evidence of malignancy. Gastrographic imaging from the ileostomy showed sufficient size of the J pouch and good tonus of the anus at 6 months after surgery. The Wexner scores at 1, 3 and 6 months after ileostomy closure were 5, 3 and 0, respectively. CONCLUSION: The MAC-TAMIS technique is safe and feasible during total proctocolectomy with IPAA in patients with FAP. This technique allows us to precisely preserve the internal anal sphincter using a laparoscopic approach.