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Ileal pouch surgery is the surgical gold standard treatment for patients with ulcerative colitis (UC) and familial adenomatous polyposis (FAP). However, ileal pouch surgery is a technically challenging procedure and is associated with high morbidity. Clinical presentations of pouch complications are often nonspecific but imaging can identify many of these complications and is essential in clinical management. This paper will focus on magnetic resonance imaging (MRI) of the ileal pouch, including recommended MRI protocol and approach to imaging interpretation with an emphasis on those ileal pouch complications particularly well evaluated with MRI., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

For over 40 years, restorative proctocolectomy has been used in patients with ulcerative colitis or familial adenomatous polyposis undergoing proctocolectomy. Radiologists are now encountering an increasing number of patients with an ileal pouch and therefore need to understand the clinical issues and concerns in these patients. This review is the introduction of a special issue on the ileal pouch and was written with both surgeon and gastroenterology input. The intent is to assist the radiologist in understanding the clinical questions posed by both the patients and their physicians. Subsequent sessions will address specific imaging modalities and techniques, how the gastroenterologists and surgeons address issues with these patients, and a final session summarizing the sessions and speculating on future investigations and approaches., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Abstract: A 57-year-old man with familial adenomatous polyposis (FAP) and newly diagnosed colonic adenocarcinoma was referred to 18 F-FDG PET/CT for staging and 68 Ga-FAPI-04 PET/CT for ongoing trial. 18 F-FDG PET/CT showed equal intense 18 F-FDG uptake in the tumor and multiple hypermetabolic polypoid lesions in the entire colorectum. 68 Ga-FAPI-04 PET/CT showed intense 68 Ga-FAPI-04 uptake only at the colonic tumor, without uptake at polypoid lesions., Competing Interests: Conflicts of interest and sources of funding: none declared., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Introduction: Ultrasound screening for thyroid cancer is recommended in familial adenomatous polyposis (FAP). This study investigated the prevalence of thyroid neoplasia in children with FAP., Methods: Cross-sectional study of children with FAP at an academic hospital. Clinical and ultrasound data were analyzed for the prevalence of thyroid nodules and cancer., Results: Of 37 children with FAP, 8 (22%) had thyroid nodules and 2 (5%) had thyroid cancer. Nodules (30%) and cancer (9%) were more common among female subjects and rare among male subjects., Discussion: Thyroid ultrasound screening in adolescence may benefit female subjects with FAP but has limited utility in male subjects., (Copyright © 2022 by The American College of Gastroenterology.)

Objectives: Familial adenomatous polyposis (FAP) is a hereditable disorder characterized by early and unremitting development of intestinal polyps and extraintestinal manifestations requiring multidisciplinary surveillance. Herein we describe a multicenter cross-sectional analysis of the dento-osseous radiographic findings of patients with FAP from North and South America., Study Design: Groups I and II included individuals with FAP diagnosed by standard clinical criteria. Patients were paired with age- and sex-matched participants without FAP. Panoramic radiograph of both cohorts, including children and adults, were analyzed., Results: Of 114 panoramic radiographs, 38 were from patients with FAP, composed of group I (n = 22) and group II (n = 16), and 76 were from matched control participants. Evaluators had excellent agreement on key findings (intraclass correlation coefficient = 0.89). The prevalence of osseous anomalies was higher in adults (75%) than in children (65.4%). Dental anomalies were also higher in children with FAP with a prevalence of 15.4%., Conclusions: We describe important and significant differences in the prevalence of dento-osseous anomalies in children compared with adult patients with FAP. These findings warrant careful consideration and may influence multidisciplinary management of the condition. Conversely, the presence of these abnormalities in pediatric dental patients even if not diagnosed with FAP should be borne in mind as possibly indicating de novo or unrecognized disease., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Background: Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised., Aims: To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs., Methods: This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010-2019. Age, gender, history of familial polyposis syndromes, DP/SML characteristics were recorded. Histopathological, immunohistochemical and molecular analyses were performed., Results: 399 non-ampullary DP/SMLs from 345 patients (60.6% males; median age 67 years) were identified. Gastric foveolar metaplasia represented the most frequent histotype (193 cases, 48.4%), followed by duodenal adenomas (DAs; 77 cases, 19.3%). Most DAs (median size 6 mm) were sessile (Paris Is; 48%), intestinal-type (96.1%) with low-grade dysplasia (93.5%). Among syndromic DAs (23%), 15 lesions occurred in familial adenomatous polyposis 1, two were in MUTYH-associated polyposis and one was in Peutz-Jeghers syndrome (foveolar-type, p53-positive, low-grade dysplasia). Only one (3.3%) tubular, low-grade DA showed mismatch repair deficiency (combined loss of MLH1 and PMS2, heterogeneous MSH6 expression), and it was associated with a MLH1 gene germline mutation (Lynch syndrome)., Conclusion: DPs/SMLs are heterogeneous lesions, most of which showing foveolar metaplasia, followed by low-grade, intestinal-type, non-syndromic DAs. MMR-d testing may identify cases associated with Lynch syndrome., Competing Interests: Declaration of Competing Interest None to disclose for all authors., (Copyright © 2021 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)

Objective: To perform a phenotypic characterization of the dento-osseous anomalies in a Brazilian family with Familial Adenomatous Polyposis (FAP) and to investigate the adenomatous polyposis coli (APC) causative variant., Design: The study included a family of 14 individuals (Group A: affected; Group B: non-affected). The frequency of radiographic findings in both groups was evaluated according to the Dental Panoramic Radiograph Score (DPRS) diagnostic method. The accuracy and reproducibility of DPRS were tested. The DNA was isolated from the index patient's saliva and submitted to whole-exome and Sanger sequencing approach., Results: DPRS ≥ 7 was observed in 80 % of Group A but in none of Group B. The most common findings in Group A were dense bone islands (60 %), hazy sclerosis (40 %), osteomas (40 %), and supernumerary tooth (20 %). DPRS has proved to be a reliable method while DPRS ≥ 5 and DPRS ≥ 7 were taken as positive for FAP, and reproducible diagnosis test considering that the evaluators correctly identified the affected patients (Kappa agreement>0.8, p = 0.002). A nonsense heterozygous mutation in the APC gene (c.1370C > G; p.Ser457*) of the index case was detected., Conclusion: FAP patients have a higher frequency of dento-osseous anomalies (p = 0.005). Bone abnormalities were more prevalent than dental anomalies (p = 0.001). Thus, FAP patients should be referred for dental examination and genetic counseling to perform early diagnosis of dento-osseous anomalies and evaluate the implications of the molecular findings in each particular family., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Background: Familial adenomatous polyposis (FAP) as a colon cancer predisposition syndrome is an autosomal-dominant inherited condition and is diagnosed by the progress of hundreds or thousands of adenomatous colonic polyps in the colon. This study aims at the nature and effect of Adenomatous Polyposis Coli (APC) gene mutations in FAP tumorigenesis., Methods: The genetic screening of 59 FAP Iranian patients in 10 families was performed by polymerase chain reactions and the direct sequencing of the entire coding exons of the APC gene. To do linkage haplotype analysis and multiplex PCR-based microsatellite examination, six short tandem repeat loci were selected in this gene. To evaluate and predict the potentially deleterious effects, comprehensive bioinformatics pathogenicity assays were used., Results: A total of 12 germline heterozygous and homozygous nucleotide variations were identified. They included two missense mutations, four nonsense mutations, which would lead to the truncated and nonfunctional protein products, four synonymous or silent variations, and two nucleotide deletions of 1 to 5 bp or frameshift mutations. In addition, three novel heterozygous nonsense mutations were found in exons 10, 14, and 15 of the gene. There was also p.Arg653Met as a novel heterozygote mutation in exon 14 of the gene., Conclusions: Bioinformatics analysis and three-dimensional structural modeling predicted that these missense and nonsense mutations generally are associated with the deleted or truncated domains of APC and have functional importance and mainly affected the APC protein. These findings may provide evidence for the progress of potential biomarkers and help to understand the role of the APC gene in FAP., (© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)

Rationale: Desmoid tumors are rare myofibroblastic neoplasms characterized by local invasiveness and high rates of recurrence, and sometimes mimic local recurrence of previously resected malignancies. Previous studies have suggested that molecular profiling may be useful for the diagnosis of the tumors and risk stratification. However, the clinical utility of next-generation sequencing (NGS) for the management of desmoid tumors has not been established., Patient Concerns: A 42-year-old man visited our clinic for routine follow-up 1 year after left upper lobe lingular segmentectomy for lung adenocarcinoma., Diagnoses: Chest computed tomography showed a pleural mass adherent to the thoracotomy site. Positron emission tomography revealed mildly increased metabolism with a maximal standardized uptake value of 2.7 within the tumor, suggesting local recurrence of the previous neoplasm. Exploratory thoracotomy and en bloc resection of the tumor revealed spindle cells in a massive collagenous tissue consistent with a desmoid tumor., Interventions: NGS was performed to confirm the diagnosis and to identify any genetic alterations that might be relevant to the prognosis of this tumor. The tumor harbored an S45F mutation in CTNNB1, which has been correlated with a high recurrence rate. Therefore, we performed adjuvant radiotherapy on the resection bed at a dose of 56 Gy., Outcomes: The patients experienced no postoperative or radiotherapy-related complications. Periodic follow-up examinations using computed tomography were performed every 3 months, and no evidence of recurrence of either tumor was observed during the 38 months after the last surgery., Lessons: To the best of our knowledge, this is the first case reporting the clinical application of NGS and aggressive treatment based on the genotyping results for the management of a desmoid tumor. Our case highlights the need to consider desmoid tumors among the differential diagnoses when a pleural mass is encountered at a previous thoracotomy site. More importantly, molecular profiling using NGS can be useful for the establishment of a treatment strategy for this tumor, although further investigations are required., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background and Aims: Gastric cancer is an extracolonic manifestation of familial adenomatous polyposis (FAP) and is associated with high-risk gastric polyps. There are no known endoscopic criteria to identify these high-risk polyps. Our aim was to develop endoscopic criteria to identify high-risk polyps on endoscopy in FAP., Methods: We prospectively collected 150 gastric polyps in consecutive patients undergoing surveillance EGD at the Cleveland Clinic. Pictures were taken of each polyp under narrow-band imaging and high-definition white light. In an exploratory phase, 5 endoscopists developed consensus criteria using the images to distinguish high-risk (pyloric gland adenoma, tubular adenoma, hyperplastic) from low-risk (fundic gland with low-grade or no dysplasia) polyps. In the assessment phase, endoscopists were blinded to polyp pathology and used the criteria to predict the individual polyp risk category. To measure diagnostic accuracy, we reported the mean sensitivity, specificity, and interrater agreement (κ)., Results: Consensus criteria were developed based on 16 low-risk and 9 high-risk polyps. The final 149 polyps consisted of 128 low-risk and 22 high-risk polyps (1 polyp was excluded from analysis). Using the criteria, the 5 endoscopists distinguished high- from low-risk polyps with a mean sensitivity and specificity of 79% (16.3%) and 78.8% (10.8%), respectively. The κ coefficient was .45, indicating moderate agreement., Conclusions: We developed endoscopic criteria to distinguish between high- and low-risk polyps associated with gastric cancer in FAP. The criteria provide guidance to endoscopists in targeting high-risk polyps while surveying the stomach of patients with proximal gastric polyposis., (Copyright © 2020 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.)

As a large number of cancers are caused by nonsense mutations in key genes, read-through of these mutations to restore full-length protein expression is a potential therapeutic strategy. Mutations in the adenomatous polyposis coli (APC) gene initiate the majority of both sporadic and hereditary colorectal cancers (CRC) and around 30% of these mutations are nonsense mutations. Our goal was to test the feasibility and effectiveness of APC nonsense mutation read-through as a potential chemo-preventive therapy in Familial Adenomatous Polyposis (FAP), an inherited CRC syndrome patients. Ten FAP patients harboring APC nonsense mutations were treated with the read-through inducing antibiotic erythromycin for 4 months. Endoscopic assessment of the adenomas was performed at baseline, after 4 and after 12 months. Adenoma burden was documented in terms of adenoma number, maximal polyp size and cumulative polyp size per procedure. Tissue samples were collected and subjected to molecular and genetic analyses. Our results show that in the majority of patients the treatment led to a decrease in cumulative adenoma burden, median reduction in cumulative adenoma size and median reduction in adenoma number. Molecular and genetic analyses of the adenomas revealed that the treatment led to a reduced number of somatic APC mutations, reduced cellular proliferation and restoration of APC tumor-suppressing activity. Together, our findings show that induced read-through of APC nonsense mutations leads to promising clinical results and should be further investigated to establish its therapeutic potential in FAP and sporadic CRCs harboring nonsense APC mutations., (© 2019 UICC.)

Background: Researchers are searching in vain for a coherent genetic explanation for serrated polyposis. We hypothesize that there is no consistent monogenetic inheritance., Objective: The purpose of this study was to describe the serrated polyposis phenotype, assessing features of mendelian inheritance, and to compare these features with patients with a solitary sessile serrated lesion., Design: This was a retrospective review of a prospectively maintained database comparing patients with serrated polyposis versus solitary sessile serrated lesions., Settings: The study was conducted at a single-institution tertiary referral center., Patients: Patients with serrated polyposis meeting World Health Organization criteria type I (≥5 serrated polyps proximal to the sigmoid, ≥2 of which are ≥10 mm in diameter) and isolated sessile serrated lesions were included MAIN OUTCOME MEASURES:: Disease phenotype was the main outcome measured., Results: A total of 46 serrated polyposis patients were identified. Median age of first sessile serrated lesion was 66 years (interquartile range, 42-70 y). A total of 60.3% were current or past smokers (mean = 38.6 packs per year). Serrated polyposis patients had a higher number of all types of polyps (26.3 vs 4.4) and a higher rate of high-grade dysplasia (19.6% vs 3.7%) compared with patients with a solitary sessile serrated lesion. A total of 36.2% of patients had personal history of noncolorectal cancers, including skin, prostate, breast, thyroid, and renal cell cancers and leukemia. In addition, 32.6% had a family history of colorectal cancer in first- or second-degree relatives; these cancers were not young age of onset. Breast and prostate cancers were also common (family history of any cancer, 83.0%). Ten patients underwent genetic testing: 4 had negative panels, 1 had a pathogenic variant in MSH2, 1 an IVS7 deletion in PTEN, 2 negative APC sequencing (1 negative MYH), and 1 a pathogenic variant in Chek2., Limitations: RNF4 was not sequenced. Genetic analysis was performed on a subset of patients., Conclusions: The rate of associated cancers suggests an underlying genetic predisposition to disordered growth, but serrated polyposis does not have typical features of dominant inheritance. The association with smoking suggests that familial/environmental factors play a role. See Video Abstract at http://links.lww.com/DCR/B84. POLIPOSIS SERRADA SÉSIL: ¿NO ES UN SÍNDROME HEREDITARIO?: Los investigadores están buscando en vano una explicación genética coherente para la póliposis serrados. Suponemos que no existe una herencia monogenética consistente.1) Describir el fenotipo de póliposis serrada, evaluando las características de la herencia mendeliana, 2) comparar estas características con pacientes con una lesión serrada sésil solitaria.Revisión retrospectiva de una base de datos mantenida prospectivamente que compara pacientes con póliposis serrada versus lesiones serradas sésiles solitarias.Institución única, centro de referencia terciario.Pacientes con póliposis serrada que cumplen con los Criterios de la Organización Mundial de la Salud Tipo I (≥ 5 pólipos serrados proximales al sigmoideo, ≥2 de los cuales tienen ≥10 mm de diámetro) y lesiones serradas sésiles aisladas.Fenotipo de la enfermedad.Se identificaron un total de 46 pacientes con póliposis serrada. La edad mediana de la primera lesión serrada sésil fue de 66 años (RIC: 42-70 años). El 60.3% eran fumadores actuales o pasados (medio 38.6 paquetes / año). Los pacientes con póliposis serrada tuvieron un mayor número de todos los tipos de pólipos (26.3 versus 4.4) y una mayor tasa de displasia de alto grado (19.6% versus 3.7%) en comparación con los pacientes con una lesión serrada sésil solitaria. El 36.2% de los pacientes tenían antecedentes personales de cánceres no colorectales, incluyendo los cánceres de piel, próstata, mama, tiroides, células renales y leucemia. El 32.6% tenía antecedentes familiares de cáncer colorectal en familiares de primer o segundo grado; estos cánceres no eran de inicio de edad temprana. El cáncer de mama y próstata también fue frecuente (antecedentes familiares de cualquier tipo de cáncer: 83.0%). 10 pacientes se sometieron a pruebas genéticas: 4 tenían paneles negativos, 1 tenía una variante patogénica en MSH2, 1 una eliminación IVS7 en PTEN, 2 secuenciación APC negativa (1 MYH negativa) y 1 variante patogénica en Chek2.RNF4 no fue secuenciado. El análisis genético se realizó en un subconjunto de pacientes.La tasa de cánceres asociados sugiere una predisposición genética subyacente al crecimiento desordenado, pero la póliposis serrada no tiene características típicas de herencia dominante. La asociación con el tabaquismo sugiere que los factores familiares / ambientales juegan un papel. Consulte Video Resumen en http://links.lww.com/DCR/B84. (Traducción-Dr. Yesenia Rojas-Khalil).

Background: Familial adenomatous polyposis affects primarily the colon but can also involve other locations within the gastrointestinal tract, including the duodenum. The aim of this study was to describe a single center experience with pancreas-sparing duodenectomy for familial adenomatous polyposis and to compare outcomes with pancreatoduodenectomy performed for duodenal polyp disease., Patients and Methods: A retrospective review of a prospectively maintained database identified patients who had undergone pancreas-sparing duodenectomy during the period 2001 to 2016. This population was matched 1:1 with a cohort of patients undergoing pancreatoduodenectomy for duodenal adenomas, both sporadic and familial, during the same time period. Baseline demographics and perioperative (short- and long-term) outcomes were compared., Results: A total of 88 patients were included; 44 in each group. The pancreas-sparing duodenectomy cohort was younger (52.6 vs 64.3 years; P < .001) and more patients had undergone prior colectomy (100% vs 32%; P < .001) or additional prior abdominal surgery (27% vs 9% (P < .001). Median operative times were greater for pancreatoduodenectomy (391 vs 460 min; P = .002). There was no difference in any of the early postoperative complications. There was 1 30-day mortality in the pancreatoduodenectomy group secondary to aspiration. Late acute pancreatitis was more common after pancreas-sparing duodenectomy (16% vs 0%; P = .012) and exocrine pancreatic insufficiency was more common after pancreatoduodenectomy (30% vs 11%; P = .034)., Conclusion: Pancreas-sparing duodenectomy is a reasonable option for duodenal cancer prophylaxis in familial adenomatous polyposis with high-risk features. The perioperative safety profile is comparable to pancreatoduodenectomy done for similar indications, and pancreas-sparing duodenectomy has a favorable long-term with a lesser incidence of exocrine impairment., (Copyright © 2019. Published by Elsevier Inc.)

Case Summary: A 34-year-old woman is referred after a colonoscopy that revealed >100 polyps throughout her colon and rectum (). A random selection of 3 polyps is biopsied and reported as adenomas. She is adopted and is unaware of her biological family. She is found to have a deleterious germline variant in APC (c.1967-1974del). She works as a nurse and is married with 4 children (age: 17, 13, 11, and 6 years). She has had no prior abdominal operations.

Familial adenomatous polyposis is a rare autosomal dominant intestinal syndrome with a high rate of malignant transformation. Here, we report a 20-year-old woman with a diagnosis of familial adenomatous polyposis by pathologic examination after colonoscopy biopsy, who underwent an F-FDG PET/CT to assess the extent of this disease. The images showed diffuse elevated FDG uptake along the entire colorectum. Additionally, focal enlarged lymph nodes with increased FDG uptake were noted. These findings promoted proctocolectomy and lymphadenectomy.

Background: The increasing incidence of duodenal neoplasm has underlined different methods of resection depending on the clinical presentation, endoscopic features and histopathology. In this comprehensive review, we systematically describe the current knowledge concerning the diagnosis and management of duodenal adenomas (DAs) and discuss data considering all possible therapeutic approaches., Summary: Among a variety of duodenal lesions, including neuroendocrine tumors and gastrointestinal stromal tumors, DAs present precancerous lesions of the duodenal papilla or non-ampullary region necessitating removal. DAs can occur sporadically (SDA) as rare lesions or relatively common in polyposis syndromes. The endoscopic resections of DA are associated with an increased degree of complexity due to distinctive anatomical properties of the duodenal wall, luminal diameter and the presence of ampulla with pancreatic and biliary drainage. The endoscopic techniques including cold snare polypectomy (CSP), endoscopic mucosal resection (EMR), and argon plasma coagulation ablation are suggested to be less invasive than surgical treatment, associated with shorter hospital stay and lower cost. According to the current clinical practice, surgery has been accepted as standard therapeutic approach in familial adenomatous polyposis patients with severe polyposis or DA not amenable to endoscopic resection. Key Messages: The strategy for endoscopic resection of DAs depends on the lesion size, morphology, location, and histopathology findings. Small adenomas are most frequently diagnosed and removed by standard CSP techniques, while large laterally spreading lesions and ampullary adenoma are referred for EMR or endoscopic papillectomy respectively. Screening colonoscopy is indicated in patients with SDA. Additional studies for new endoscopic strategies and techniques for curative therapy of DAs are needed to refine future management decisions. Complete resection of DA is considered curative, but nevertheless, long-term endoscopic follow-up is still required to detect and treat any recurrent arising lesions., (© 2019 S. Karger AG, Basel.)

Introduction: The timing of prophylactic colorectal surgery in patients with familial adenomatous polyposis (FAP) is based on the immediacy of the colorectal cancer risk. The ability to predict the need for surgery may help patients and their families plan in the context of life events and CRC risk. We created a model to predict the likelihood of surgery within 2 and 5 years of first colonoscopy at our institution., Methods: A single institution hereditary colorectal syndrome (Cologene™) database was interrogated for all patients with FAP having a deleterious APC mutation. Patients with first colonoscopy after age 30 and before year 2000 were excluded. Cox regression analysis was done to assess multiple factors associated with surgery, followed by stepwise Cox regression analysis to select an optimal model. Receiver operator curve (ROC) analysis was performed to assess the model., Results: A total of 211 (53% female) patients were included. Forty-five percent underwent surgery after an average of 3.8 years of surveillance. The final model was created based on initial clinical characteristics (age, gender, BMI, family history of desmoids, genotype-phenotype correlation), initial colonoscopic characteristics (number of polyps, polyp size, presence of high-grade dysplasia); and on clinical events (chemoprevention and polypectomy). AUC was 0.87 and 0.84 to predict surgery within 2 and 5 years, respectively. The final model can be accessed at this website: http://app.calculoid.com/#/calculator/29638 ., Conclusion: This web-based tool allows clinicians to stratify patients' likelihood of colorectal surgery within 2 and 5 years of their initial examination, based on clinical and endoscopic features, and using the philosophy of care guiding practice at this institution.

Background: Sessile serrated polyps (SSPs) are important precursors of colorectal carcinoma and interval cancer. Large SSPs (≥ 20 mm) outside the definition of serrated polyposis syndrome (SPS) have not been studied in comparison with SPS. We aimed to describe the characteristics of patients with large SSPs in this context., Methods: Patients with at least one SSP (≥ 20 mm) were eligible. Data from three consecutive colonoscopies were used to compare clinical and endoscopic characteristics in three patient groups: SPS, a solitary large SSP, and patients with at least two SSPs without fulfilling the criteria for SPS (oligo-SSP). Data on the diagnostic colonoscopy were collected retrospectively, whereas the remaining data was collected prospectively., Results: 67/146 patients (45.9 %) had SPS, 53/146 (36.3 %) had a solitary SSP, and 26/146 (17.8 %) were categorized as oligo-SSP. Personal (16.4 %, 9.4 %, and 11.5 %, respectively) and family (17.9 %, 17.0 %, and 23.1 %, respectively) history of colorectal carcinoma did not differ significantly between groups. Polyp burden was greater in SPS compared with solitary SSP but was not different from oligo-SSP (advanced adenomas: SPS 32.8 % vs. solitary SSP 9.4 % [ P  = 0.002] vs. oligo-SSP 34.6 % [ P  = 0.87]; ≥ 10 conventional adenomas: 11.9 % vs. 0 % [ P  = 0.01] vs. 3.8 % [ P  = 0.44], respectively). Dysplasia in large SSPs was frequent in all groups (41.1 % overall). SPS was recognized by referring endoscopists in only 9.0 % of cases., Conclusion: Patients with oligo-SSPs have similar synchronous polyp burden and clinical characteristics as patients with SPS and may require similar surveillance. Modification of the criteria for the diagnosis of SPS to include this group seems warranted. Patients with a solitary SSP have a lower risk of synchronous polyps, including advanced adenomas. Larger studies are warranted to determine whether these patients may return to standard surveillance following complete examination and clearance of the colon., Competing Interests: None, (© Georg Thieme Verlag KG Stuttgart · New York.)

Background and Aims: Duodenal polyposis and cancer have become a key issue for patients with familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). Almost all patients with FAP will develop duodenal adenomas, and 5% will develop cancer. The incidence of duodenal adenomas in MAP appears to be lower than in FAP, but the limited available data suggest a comparable increase in the relative risk and lifetime risk of duodenal cancer. Current surveillance recommendations, however, are the same for FAP and MAP, using the Spigelman score (incorporating polyp number, size, dysplasia, and histology) for risk stratification and determination of surveillance intervals. Previous studies have demonstrated a benefit of enhanced detection rates of adenomas by use of chromoendoscopy both in sporadic colorectal disease and in groups at high risk of colorectal cancer. We aimed to assess the effect of chromoendoscopy on duodenal adenoma detection, to determine the impact on Spigelman stage and to compare this in individuals with known pathogenic mutations in order to determine the difference in duodenal involvement between MAP and FAP., Methods: A prospective study examined the impact of chromoendoscopy on the assessment of the duodenum in 51 consecutive patients with MAP and FAP in 2 academic centers in the United Kingdom (University Hospital Llandough, Cardiff, and St Mark's Hospital, London) from 2011 to 2014., Results: Enhanced adenoma detection of 3 times the number of adenomas after chromoendoscopy was demonstrated in both MAP (P = .013) and FAP (P = .002), but did not affect adenoma size. In both conditions, there was a significant increase in Spigelman stage after chromoendoscopy compared with endoscopy without dye spray. Spigelman scores and overall adenoma detection was significantly lower in MAP compared with FAP., Conclusions: Chromoendoscopy improved the diagnostic yield of anomas in MAP and FAP 3-fold, and in both MAP and FAP this resulted in a clinically significant upstaging in Spigelman score. Further studies are required to determine the impact of improved adenoma detection on the management and outcome of duodenal polyposis., (Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.)

Background and Aims: Proctocolectomy prevents colorectal cancer in familial adenomatous polyposis (FAP). Colorectal polyp progression is one of the indications for surgery. No data exist regarding the natural history of colorectal polyposis in young patients with FAP. This study examined the rate of polyposis progression and factors associated with it., Methods: Patients with FAP <30 years old who had undergone ≥2 colonoscopies since 2000 were identified. Rate of polyposis progression was calculated by review of polyp counts obtained from baseline and last colonoscopy, accounting for any polyps removed during the observation period. Endoscopic and non-endoscopic factors affecting the rate of polyposis progression were evaluated. Multivariate analysis was performed to identify factors associated with rate of polyposis progression., Results: One hundred sixty-eight patients (52% female; median age, 13.5 years) were included. Median rate of polyposis progression was 25.4 polyps/year (interquartile range, 9.5-69.8). Highest median rate of polyposis progression (89 polyps/year) was associated with mutation in codon 1309. The rate of polyposis progression was independently associated with the location of mutation in the adenomatous polyposis coli gene, the number of polyps at the initial colonoscopy, and exposure to chemoprevention. Of the 39.9% of patients who underwent surgery, an increase in polyp number was the most common indication (53.7%)., Conclusions: The rate of polyposis progression in young patients with FAP varies with a median of about 25 new polyps per year. Progression is associated with distinct factors, which can be used in discussion with patients regarding the need for and timing of prophylactic colorectal surgery., (Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.)

Competing Interests: Competing interests: None declared.

Desmoid (desmoid tumor) is a cytologically benign fibrous tumor that originates from musculoskeletal structures of the entire body [1]. The term "desmoid", first introduced by Muller in 1838, derives from the Greek word desmos, which means tendinous [2]. The etiopathogenesis of desmoid is not fully understood, most reports of publications regarding its treatment are based on individual case reports. The prognosis is good, and healing is achieved mainly through surgical excision of the lesion. The aim of the paper is to present a case of a 33-year-old woman with diagnosed familial polyposis in the colon, who has been identified with mesenteric desmoid.ic desmoid.

Background: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age., Case Presentation: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon. Genetics of pathology specimens revealed 47(XX) + 13 without other mutations. She underwent prophylactic completion colectomy due to presumed risk of colorectal cancers given underlying adenomatous polyposis. She has recovered well without evidence of recurrence., Conclusions: The presence of colonic polyposis and colorectal cancer without family history or known mutations for polyposis syndrome suggests an intrinsic predisposition toward colorectal cancer in this patient with Trisomy 13. Recent research into colorectal cancer oncogenes supports that aneuploidy or increased copy number of certain genes on chromosome 13 may increase the risk of malignant transformation. This is an important correlation for researchers studying these topics and clinicians caring for patients with Trisomy 13 as they age.

Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition which is associated with germline mutations of the APC gene. Clinically, FAP is characterized by the development of multiple colorectal adenomas or polyps which finally result in colorectal cancer by the 40 years age of the patient, if no surgical interventions have been undertaken. In this study, we present a clinical molecular study of a four generation Chinese family with FAP. Diagnosis of FAP was made on the basis of clinical manifestations, family history and medical (colonoscopy and histopathology) records. Genetic screening of the proband and all affected family members were performed by targeted next-generation sequencing and confirmatory Sanger sequencing. Targeted next generation sequencing identified a germline novel heterozygous single nucleotide deletion [c.3418delC; p.Pro1140Leufs*25] in exon18 of APC gene, which segregated with the FAP phenotypes in the proband and in all the affected family members whereas absent in unaffected family members as well as in normal healthy controls of same ethnic origin. Our present study expands the mutational spectrum of APC gene and provides evidence to understand the function of APC gene in FAP.

Background: Inflammatory myofibroblastic tumor (IMT) of the stomach is extremely rare in adults and exhibits a variable biological behavior that ranges from frequently benign lesions to more aggressive variants. Here we report a case of gastric IMT with lymph node metastasis in an adult who had undergone total colectomy for familial adenomatous polyposis (FAP)., Case Presentation: A 37-year-old man presented gradual-onset epigastric discomfort; he had undergone total colectomy for FAP 6 years before. The upper endoscopy revealed diffuse polyposis in the body of stomach and a submucosal protruding tumor of approximately 4.5 × 3.5 cm in the gastric angular incisure, appearing like gastrointestinal stromal tumor. Histology after surgery verified the diagnosis of fundic gland polyposis (FGPs) and gastric IMT with lymph node metastasis. Both the primary IMT tissue and its metastatic lesion but not the FGP or FAP tissue were positive for anaplastic lymphoma kinase (ALK) on immunohistochemical staining. Fluorescent in situ hybridization confirmed the existence of ALK rearrangement in IMT tissues. However, the patient exhibited no abnormalities in microsatellite instability or mismatch repair-system components, including MSH6, MSH2, MLH1 and PMS2, in IMT, FGP or FAP tissue., Conclusions: This case allowed for exploring the relationship among IMT, FGP and FAP and indicates that gastric IMT should be considered in the diagnosis of a gastric mass in patients with FAP. ALK may be a useful biomarker in the diagnosis of IMT and its metastatic lesions.

Desmoid tumors, also known as aggressive fibromatosis, are locally infiltrating musculoaponeurotic neoplasms arising in connective tissues. Desmoid tumors may be associated with familial adenomatous polyposis (FAP), a genetic disorder that presents with hundreds to thousands of precancerous colorectal polyps. The authors report the case of an 18-month-old boy who underwent resection of a right temporal desmoid tumor (initially diagnosed as cranial fasciitis) and developed a bilateral frontoparietal calvarial desmoid tumor 2 years later. The patient underwent gross-total resection of the tumor that required a large cranioplasty. He was subsequently diagnosed with FAP. The patient has been without tumor recurrence for 9 years afterwards and has not required revision of his cranioplasty. This is the first report describing a recurrent cranial desmoid tumor in a pediatric patient with FAP. The authors believe, however, that some of the cases previously reported as cranial fasciitis are likely desmoid tumors pathobiologically and genetically.

Background: MYH-associated polyposis is a recessively inherited syndrome of colorectal cancer predisposition attributed to biallelic germline mutations in the base excision repair gene MYH. Clinically it overlaps with attenuated familial adenomatous polyposis, sporadic oligopolyposis, serrated polyposis, familial colorectal cancer type X, and Lynch syndrome. There is no specific phenotypic feature of MYH-associated polyposis. We have noticed that a proportion of patients with MYH-associated polyposis presenting for yearly colonoscopy surveillance have rectums that are studded with small hyperplastic polyps., Objective: We report this as a possible unique phenotypic feature of the syndrome., Design: This was a descriptive study., Settings: The study was conducted at a department of colorectal surgery in a tertiary referral center., Patients: Patients affected with oligopolyposis or MYH-associated polyposis presenting for endoscopic surveillance and polyp control were included., Interventions: Interventions included colonoscopy or proctoscopy with excision or biopsy of mucosal lesions., Main Outcome Measures: The presence of rectal studding was measured., Results: There were 49 patients, 16 with biallelic germline mutations of MYH; 10 of these had rectal studding. A sampling of rectal polyps was biopsied and all were hyperplastic. Five patients with biallelic MYH mutations had no studding, and 1 had not been prospectively examined. The studding was independent of the nature of the MYH mutation(s). The 33 patients other patients included 21 with serrated polyposis, 2 with a germline APC mutation, 1 with a PTEN mutation, 2 with mixed polyposis, 3 with oligoadenomatous polyposis and no germline mutation, and 4 patients with oligoadenomatous polyposis who had not been genetically tested. Only 1 of these (oligoadenomatous polyposis, not tested) had studding., Limitations: The study was limited by its small number of biallelic MYH mutation carriers., Conclusions: Rectal studding may be a sign of MYH-associated polyposis and raises questions about the biology of abnormal base excision repair.

Introduction: Splenoma or splenic hamartoma is a rare primary splenic tumor most often discovered radiologically and incidentally. Splenic hamartomas have a strong association with solid and hematological malignancies and, in rare cases, with tuberous sclerosis, but to the best of our knowledge no reports of splenic hamartomas associated with familial adenomatous polyposis have been documented, although it is recognized that familial adenomatous polyposis presents a variety of extracolonic manifestations., Case Presentation: We report on a very rare case of multiple splenic hamartomas in a 46-year-old white woman who had previously undergone surgery for restorative proctocolectomy for familial adenomatous polyposis. A computed tomography scan of her spleen revealed multiple small lesions which measured less than 1cm in diameter. A splenectomy was performed and a histologic examination of the splenectomy specimen revealed the presence of multiple hamartomas., Conclusion: Incidence, differential diagnosis, diagnostic procedures, pathologic findings and treatment of splenic hamartomas are discussed here and hamartomas are considered in a differential diagnosis of splenic tumors. A splenectomy is indicated in cases where malignancy cannot be excluded and in cases of associated hematologic disorders. To the best of our knowledge our patient is the first reported case to have splenic hamartomas identified in a familial adenomatous polyposis-affected patient with mutation in exon 15 of the APC gene. At this time it is not possible to correlate with certainty our multiple splenic hamartomas and familial adenomatous polyposis case as a clinical manifestation of the mutation of APC gene; however, we believe that this case report could be important for further observation of similar cases in the future.

Individuals with familial adenomatous polyposis (FAP) harbor a germline mutation in adenomatous polyposis coli (APC). The major clinical manifestation is development of multiple colonic tumors at a young age due to stochastic loss of the remaining APC allele. Extracolonic features, including periampullary tumors, gastric abnormalities, and congenital hypertrophy of the retinal pigment epithelium, may occur. The objective of this study was to develop a mouse model that simulates these features of FAP. We combined our Lrig1-CreERT2/+ mice with Apcfl/+ mice, eliminated one copy of Apc in leucine-rich repeats and immunoglobulin-like domains protein 1 (Lrig1)-positive (Lrig1(+)) progenitor cells with tamoxifen injection, and monitored tumor formation in the colon by colonoscopy and PET. Initial loss of one Apc allele in Lrig1(+) cells results in a predictable pattern of preneoplastic changes, culminating in multiple distal colonic tumors within 50 days of induction, as well as the extracolonic manifestations of FAP mentioned above. We show that tumor formation can be monitored by noninvasive PET imaging. This inducible stem cell-driven model recapitulates features of FAP and offers a tractable platform on which therapeutic interventions can be monitored over time by colonoscopy and noninvasive imaging., (Copyright © 2014 the American Physiological Society.)

Introduction: Familial adenomatous polyposis (FAP) is a rare autosomal, dominant hereditary disease, which affects both sexes equally (1-10). FAP accounts for less than 1% of all colon cancers and is estimated to occur in one of 8,300 live births. It is characterized by numerous adenomas scattered throughout mucosa of the colon and rectum., Case Report: The patient is a 62 years old man, admitted at the Surgical Department of the General Hospital in Konjic on May 18 2010 with gastrointestinal problems including: hard stool, often splattered with fresh blood, irregular and that causes the patient a lot of problems. The final diagnosis was median laparatomy supra et infraumibilicalis. Exploratio cavi abdominalis. Colectomy totalis et ileo-recto anastomosis TT cum staypler (33Ch). Loop ileostomy. Drainage cavi abdominalis N I (uno). Early postoperative course was generally regular. Control laboratory findings show the reference value. After ten days of hospitalization, the patient was discharged on the home recovery, with practically given instructions for care and use of stoma bags. For the secondary surgery was planned ileostomy closure, and regular post-operative endoscopic control., Conclusion: Most of the listed surgical intervention in case of FAP treatment localized in the colon can be performed by open (classic), or laparoscopic methods. Duration of postoperative stay in the hospital depends on the patient's general condition and the type of performed surgery. It is usually about 7 days. After hospital treatment, recovery at home is from 4-6 weeks. Patients can usually return to work or school 6-8 weeks after surgery. After surgery, patients lives will be completely normal. Sexual and social activities remain the same, while either procedure does not affect the ability of a man or woman to have offspring.

Background: Desmoid tumors associated with familial adenomatous polyposis show variable behavior; about 10% grow relentlessly, resulting in severe morbidity or mortality. Investigations that could identify the minority of desmoid tumors that behave aggressively would allow these tumors to be treated early and spare the majority of patients who have more benign disease from unnecessary intervention., Objective: The aim of this study was to investigate whether imaging the tumor metabolic-vascular phenotype by modern methods predicts growth., Design: This is a prospective case series study., Settings: The study was conducted at a tertiary center specializing in familial adenomatous polyposis and desmoid disease., Patients: Nine patients with familial adenomatous polyposis (4 male, mean age 39 years) with desmoid tumor underwent 18F-FDG-PET and dynamic contrast-enhanced MRI. Standard MRI was repeated a year later to assess tumor growth., Main Outcome Measures: The primary outcome measured was the correlation between 18F-FDG-PET and dynamic contrast-enhanced MRI parameters and subsequent desmoid growth., Results: Failed intravenous access precluded dynamic contrast-enhanced MRI in 1 female patient. Thirteen desmoid tumors (4 intra-abdominal, 2 extra-abdominal, 7 abdominal wall; mean area, 68 cm) were analyzed in the remaining 8 patients. Two patients died before follow-up MRI. Five tumors decreased in size, 3 increased in size, and 3 remained stable after a year. Significant correlation (Spearman rank correlation, significance at 5%) existed between maximum standardized uptake value and k(ep) (r = -0.56, p = 0.04), but not with other vascular parameters (K(trans) (r = -0.47, p = 0.09); v(e) (r = -0.11, p = 0.72); integrated area under the gadolinium-time curve at 60 seconds (r = -0.47, p = 0.10)). There was no significant difference in the maximum standardized uptake value or dynamic contrast-enhanced MRI parameters (K(trans), v(e), k(ep), integrated area under the gadolinium-time curve at 60 seconds) between the tumors that grew or decreased in size or between the tumor sites. However, vascular metabolic ratio (maximum standardized uptake value/K(trans)) was significantly different for tumor site (p = 0.001) and size (p = 0.001, 1-way ANOVA)., Limitations: This investigation is limited because of its exploratory nature and small patient numbers., Conclusions: Although not predictive for tumor behavior, some correlations existed between dynamic contrast-enhanced MRI and 18F-FDG-PET parameters. Vascular metabolic ratio may provide further information on tumor behavior; however, this needs to be evaluated with further larger studies.

Objective: Clarify the incidence of thyroid cancer in patients with Familial adenomatous polyposis (FAP) in a prospective study of thyroid neck US screening., Background: FAP is a hereditary disease predisposing to cancer in multiple organs, including the thyroid. However, routine thyroid screening for FAP patients is not generally practiced in the United States. Here, we report the initial results of a prospective thyroid cancer screening program in patients with FAP., Methods: At the time of yearly gastrointestinal follow-up, every FAP patient in our registry was offered thyroid ultrasound (US) performed by experienced endocrine surgeons. Clinical findings related to thyroid disease were analyzed for those patients who completed screening from August 2008 to December 2009., Results: : Of 192 screened FAP patients, 72 (38%) had thyroid nodules and 5 (2.6%) had thyroid cancer. Three of 5 patients with FAP and thyroid cancer were women. Four of 5 patients had the multifocal papillary type with mean size 15 mm. Clinical history and neck exam did not detect any of the 5 cancers., Conclusion: The incidence of thyroid cancer among FAP patients is high. Medical history and exam are inadequate to identify patients with thyroid cancer, thus thyroid screening with US is warranted.

The canonical Wnt pathway plays a key regulatory role in osteoblastogenesis and bone mass acquisition through its main effector, β-catenin. Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of β-catenin turnover, and heterozygous germ-line mutations in the APC gene cause familial adenomatous polyposis (FAP). Whether APC mutations affect bone mass has not been previously investigated. We conducted a cross-sectional study evaluating skeletal status in FAP patients with a documented APC mutation. Twenty-two FAP patients with a mean age of 42 years (54.5% women) were included in this study. Mean bone mineral density (BMD) Z-scores were significantly increased above normal at all measured sites: lumbar spine (p < .01), total hip (p < .01), femoral neck (p < .05), and trochanter (p < .01). Z-scores were +1 or greater in 14 patients (63.6%) and +2 or greater in 5 (22.7%). Mean values of bone turnover markers were within normal ranges. There was a significant positive correlation between procollagen type I N-terminal propeptide (P1NP) and β-crosslaps (β-CTX) (r = 0.70, p < .001) and between these markers and sclerostin and BMD measurements. We demonstrate that FAP patients display a significantly higher than normal mean BMD compared with age- and sex-matched healthy controls in the presence of a balanced bone turnover. Our data suggest a state of "controlled" activation of the Wnt signaling pathway in heterozygous carriers of APC mutations, most likely owing to upregulation of cytoplasmic β-catenin levels., (Copyright © 2010 American Society for Bone and Mineral Research.)

Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or JPS is diagnosed, as early recognition of this syndrome overlap allows appropriate management of these patients.

Desmoid tumors may occur sporadically or as part of the extraintestinal manifestations of familial adenomatous polyposis. Different phenotypes have been described and some genotype-phenotype correlations have been raised, associated with different sites of germline mutations in the adenomatous polyposis coli (APC) gene. We report on a 42-year-old woman ascertained for a large desmoid tumor of the anterior chest wall with pleural involvement, which persistently recurred despite a decade of treatment including hormone therapy, chemotherapy, and surgery. Spontaneous disappearance of the tumor was later noted after 1 year without any treatment and confirmed after 4 years of regular follow-up. Repeated colonoscopies were normal in the proband and DNA sequencing showed a frameshift mutation due to a single adenosine deletion at position 5772 (codon 1924). This mutation, located in the exon 15 at the 3' end of the APC gene, leads to an unusual and late onset phenotype. The pedigree revealed other isolated or familial adenomatous polyposis-associated cases of desmoid tumors. This family report shows that a molecular analysis of the APC gene should be performed in familial desmoid tumors for accurate genetic counseling and follow-up.