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1.
Abdom Radiol (NY) ; 48(9): 2944-2955, 2023 09.
Article in English | MEDLINE | ID: mdl-36740604

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli , Colitis, Ulcerative , Colonic Pouches , Proctocolectomy, Restorative , Humans , Proctocolectomy, Restorative/methods , Colonic Pouches/adverse effects , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/surgery , Adenomatous Polyposis Coli/etiology , Colitis, Ulcerative/diagnostic imaging , Colitis, Ulcerative/surgery , Magnetic Resonance Imaging
2.
Clin Nucl Med ; 48(3): e141-e142, 2023 Mar 01.
Article in English | MEDLINE | ID: mdl-36240760

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli , Colonic Neoplasms , Male , Humans , Middle Aged , Positron Emission Tomography Computed Tomography , Fluorodeoxyglucose F18 , Adenomatous Polyposis Coli/diagnostic imaging , Positron-Emission Tomography , Gallium Radioisotopes
3.
Abdom Radiol (NY) ; 48(9): 2913-2917, 2023 09.
Article in English | MEDLINE | ID: mdl-36334124

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli , Colitis, Ulcerative , Colonic Pouches , Proctocolectomy, Restorative , Humans , Proctocolectomy, Restorative/methods , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/surgery , Colitis, Ulcerative/diagnostic imaging , Colitis, Ulcerative/surgery
4.
Am J Gastroenterol ; 117(7): 1166-1168, 2022 07 01.
Article in English | MEDLINE | ID: mdl-35333786

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli , Thyroid Neoplasms , Thyroid Nodule , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/epidemiology , Adolescent , Child , Cross-Sectional Studies , Female , Humans , Male , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/epidemiology , Thyroid Nodule/diagnostic imaging , Thyroid Nodule/epidemiology
6.
Article in English | MEDLINE | ID: mdl-34758938

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/epidemiology , Adult , Child , Cross-Sectional Studies , Humans , Prevalence , Radiography, Panoramic
7.
Arch Oral Biol ; 129: 105206, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34224960

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli , Tooth, Supernumerary , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/genetics , DNA , Humans , Radiography, Panoramic , Reproducibility of Results , Tooth, Supernumerary/diagnostic imaging , Tooth, Supernumerary/genetics
8.
Dig Liver Dis ; 53(12): 1647-1654, 2021 Dec.
Article in English | MEDLINE | ID: mdl-33814312

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli/pathology , Duodenal Neoplasms/pathology , Adenomatous Polyposis Coli/diagnostic imaging , Aged , Databases, Factual , Duodenal Neoplasms/diagnostic imaging , Endoscopy, Gastrointestinal , Female , Humans , Male , Metaplasia/pathology , Middle Aged , Peutz-Jeghers Syndrome/diagnostic imaging , Peutz-Jeghers Syndrome/pathology , Retrospective Studies
9.
J Clin Lab Anal ; 35(5): e23768, 2021 May.
Article in English | MEDLINE | ID: mdl-33769591

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli Protein/genetics , Adenomatous Polyposis Coli/genetics , Computational Biology , Genetic Testing , Germ-Line Mutation/genetics , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli Protein/chemistry , Adolescent , Adult , Base Sequence , Child , Codon, Nonsense/genetics , Colonoscopy , DNA Mutational Analysis , Female , Genetic Association Studies , Genetic Linkage , Genetic Predisposition to Disease , Haplotypes/genetics , Humans , Male , Models, Molecular , Pedigree , Young Adult
10.
Medicine (Baltimore) ; 100(1): e24238, 2021 Jan 08.
Article in English | MEDLINE | ID: mdl-33429825

ABSTRACT

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.


Subject(s)
Abdominal Neoplasms/diagnosis , Adenocarcinoma/surgery , Adenomatous Polyposis Coli/diagnosis , Fibromatosis, Aggressive/diagnosis , Lung Neoplasms/surgery , Abdominal Neoplasms/diagnostic imaging , Abdominal Neoplasms/genetics , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/genetics , Adult , Computed Tomography Angiography , Diagnosis, Differential , Fibromatosis, Aggressive/diagnostic imaging , Fibromatosis, Aggressive/genetics , High-Throughput Nucleotide Sequencing , Humans , Male , Postoperative Complications/diagnosis , Postoperative Complications/diagnostic imaging , Postoperative Complications/genetics , Prognosis , Thoracotomy , beta Catenin/genetics
12.
Gastrointest Endosc ; 92(3): 755-762, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32380015

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli , Stomach Neoplasms , Adenomatous Polyposis Coli/complications , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/pathology , Gastric Mucosa/pathology , Gastroscopy , Humans , Stomach Neoplasms/pathology
14.
Dis Colon Rectum ; 63(2): 183-189, 2020 02.
Article in English | MEDLINE | ID: mdl-31914111

ABSTRACT

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).


Subject(s)
Adenomatous Polyposis Coli/genetics , Genetic Testing/methods , Medical History Taking/statistics & numerical data , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/pathology , Adult , Aged , Colorectal Neoplasms/epidemiology , Colorectal Neoplasms/genetics , Endoscopy, Gastrointestinal/methods , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Phenotype , Prostatic Neoplasms/epidemiology , Prostatic Neoplasms/genetics , Retrospective Studies , Smoking/adverse effects
15.
Int J Cancer ; 146(4): 1064-1074, 2020 02 15.
Article in English | MEDLINE | ID: mdl-31283021

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli Protein/genetics , Adenomatous Polyposis Coli/drug therapy , Erythromycin/administration & dosage , Transcription, Genetic/drug effects , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/genetics , Administration, Oral , Adolescent , Adult , Aged , Child , Codon, Nonsense , Codon, Terminator/genetics , Colonoscopy , Erythromycin/adverse effects , Feasibility Studies , Female , Follow-Up Studies , Humans , Male , Middle Aged , Treatment Outcome
16.
Surgery ; 166(4): 496-502, 2019 10.
Article in English | MEDLINE | ID: mdl-31474487

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli/pathology , Adenomatous Polyposis Coli/surgery , Colectomy/methods , Duodenal Neoplasms/pathology , Duodenal Neoplasms/surgery , Pancreaticoduodenectomy/methods , Academic Medical Centers , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/mortality , Aged , Colectomy/mortality , Databases, Factual , Disease-Free Survival , Duodenal Neoplasms/mortality , Female , Humans , Male , Middle Aged , Organ Sparing Treatments/methods , Organ Sparing Treatments/mortality , Pancreas , Pancreaticoduodenectomy/mortality , Prognosis , Retrospective Studies , Risk Assessment , Statistics, Nonparametric , Survival Analysis , Treatment Outcome
17.
Dis Colon Rectum ; 62(7): 781-785, 2019 07.
Article in English | MEDLINE | ID: mdl-31188177

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli/surgery , Colonic Neoplasms/surgery , Population Surveillance , Rectal Neoplasms/surgery , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/genetics , Adult , Colectomy , Colonoscopy , Early Detection of Cancer , Female , Humans , Prophylactic Surgical Procedures
18.
Dig Dis ; 37(5): 374-380, 2019.
Article in English | MEDLINE | ID: mdl-30921797

ABSTRACT

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.


Subject(s)
Adenoma/therapy , Duodenal Neoplasms/therapy , Adenoma/pathology , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/therapy , Colonoscopy , Duodenal Neoplasms/diagnostic imaging , Humans , Retrospective Studies
19.
Clin Nucl Med ; 44(3): 262-264, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30589675

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli/diagnostic imaging , Positron Emission Tomography Computed Tomography , Female , Fluorodeoxyglucose F18 , Humans , Radiopharmaceuticals , Young Adult
20.
Am J Gastroenterol ; 113(12): 1881-1890, 2018 12.
Article in English | MEDLINE | ID: mdl-30333551

ABSTRACT

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.


Subject(s)
Adenomatous Polyposis Coli/surgery , Colorectal Neoplasms/prevention & control , Models, Biological , Prophylactic Surgical Procedures/statistics & numerical data , Risk Assessment/methods , Time-to-Treatment , Adenomatous Polyposis Coli/diagnostic imaging , Adenomatous Polyposis Coli/pathology , Adolescent , Adult , Colonoscopy/statistics & numerical data , Female , Follow-Up Studies , Humans , Internet , Male , Practice Guidelines as Topic , Prophylactic Surgical Procedures/standards , ROC Curve , Registries/statistics & numerical data , Watchful Waiting/standards , Watchful Waiting/statistics & numerical data , Young Adult
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