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1.
Abdom Radiol (NY) ; 48(9): 2944-2955, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36740604

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon , Colitis Ulcerosa , Reservorios Cólicos , Proctocolectomía Restauradora , Humanos , Proctocolectomía Restauradora/métodos , Reservorios Cólicos/efectos adversos , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/cirugía , Poliposis Adenomatosa del Colon/etiología , Colitis Ulcerosa/diagnóstico por imagen , Colitis Ulcerosa/cirugía , Imagen por Resonancia Magnética
2.
Clin Nucl Med ; 48(3): e141-e142, 2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-36240760

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon , Neoplasias del Colon , Masculino , Humanos , Persona de Mediana Edad , Tomografía Computarizada por Tomografía de Emisión de Positrones , Fluorodesoxiglucosa F18 , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Tomografía de Emisión de Positrones , Radioisótopos de Galio
3.
Abdom Radiol (NY) ; 48(9): 2913-2917, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36334124

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon , Colitis Ulcerosa , Reservorios Cólicos , Proctocolectomía Restauradora , Humanos , Proctocolectomía Restauradora/métodos , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/cirugía , Colitis Ulcerosa/diagnóstico por imagen , Colitis Ulcerosa/cirugía
4.
Am J Gastroenterol ; 117(7): 1166-1168, 2022 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-35333786

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon , Neoplasias de la Tiroides , Nódulo Tiroideo , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/epidemiología , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/epidemiología , Nódulo Tiroideo/diagnóstico por imagen , Nódulo Tiroideo/epidemiología
6.
Artículo en Inglés | MEDLINE | ID: mdl-34758938

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/epidemiología , Adulto , Niño , Estudios Transversales , Humanos , Prevalencia , Radiografía Panorámica
7.
Arch Oral Biol ; 129: 105206, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34224960

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon , Diente Supernumerario , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/genética , ADN , Humanos , Radiografía Panorámica , Reproducibilidad de los Resultados , Diente Supernumerario/diagnóstico por imagen , Diente Supernumerario/genética
8.
Dig Liver Dis ; 53(12): 1647-1654, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33814312

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon/patología , Neoplasias Duodenales/patología , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Anciano , Bases de Datos Factuales , Neoplasias Duodenales/diagnóstico por imagen , Endoscopía Gastrointestinal , Femenino , Humanos , Masculino , Metaplasia/patología , Persona de Mediana Edad , Síndrome de Peutz-Jeghers/diagnóstico por imagen , Síndrome de Peutz-Jeghers/patología , Estudios Retrospectivos
9.
J Clin Lab Anal ; 35(5): e23768, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33769591

RESUMEN

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.


Asunto(s)
Proteína de la Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/genética , Biología Computacional , Pruebas Genéticas , Mutación de Línea Germinal/genética , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Proteína de la Poliposis Adenomatosa del Colon/química , Adolescente , Adulto , Secuencia de Bases , Niño , Codón sin Sentido/genética , Colonoscopía , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Ligamiento Genético , Predisposición Genética a la Enfermedad , Haplotipos/genética , Humanos , Masculino , Modelos Moleculares , Linaje , Adulto Joven
10.
Medicine (Baltimore) ; 100(1): e24238, 2021 Jan 08.
Artículo en Inglés | MEDLINE | ID: mdl-33429825

RESUMEN

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.


Asunto(s)
Neoplasias Abdominales/diagnóstico , Adenocarcinoma/cirugía , Poliposis Adenomatosa del Colon/diagnóstico , Fibromatosis Agresiva/diagnóstico , Neoplasias Pulmonares/cirugía , Neoplasias Abdominales/diagnóstico por imagen , Neoplasias Abdominales/genética , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/genética , Adulto , Angiografía por Tomografía Computarizada , Diagnóstico Diferencial , Fibromatosis Agresiva/diagnóstico por imagen , Fibromatosis Agresiva/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/genética , Pronóstico , Toracotomía , beta Catenina/genética
12.
Gastrointest Endosc ; 92(3): 755-762, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32380015

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon , Neoplasias Gástricas , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/patología , Mucosa Gástrica/patología , Gastroscopía , Humanos , Neoplasias Gástricas/patología
14.
Dis Colon Rectum ; 63(2): 183-189, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31914111

RESUMEN

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).


Asunto(s)
Poliposis Adenomatosa del Colon/genética , Pruebas Genéticas/métodos , Anamnesis/estadística & datos numéricos , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/patología , Adulto , Anciano , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/genética , Endoscopía Gastrointestinal/métodos , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Neoplasias de la Próstata/epidemiología , Neoplasias de la Próstata/genética , Estudios Retrospectivos , Fumar/efectos adversos
15.
Int J Cancer ; 146(4): 1064-1074, 2020 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-31283021

RESUMEN

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.


Asunto(s)
Proteína de la Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/tratamiento farmacológico , Eritromicina/administración & dosificación , Transcripción Genética/efectos de los fármacos , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/genética , Administración Oral , Adolescente , Adulto , Anciano , Niño , Codón sin Sentido , Codón de Terminación/genética , Colonoscopía , Eritromicina/efectos adversos , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento
16.
Surgery ; 166(4): 496-502, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31474487

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon/patología , Poliposis Adenomatosa del Colon/cirugía , Colectomía/métodos , Neoplasias Duodenales/patología , Neoplasias Duodenales/cirugía , Pancreaticoduodenectomía/métodos , Centros Médicos Académicos , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/mortalidad , Anciano , Colectomía/mortalidad , Bases de Datos Factuales , Supervivencia sin Enfermedad , Neoplasias Duodenales/mortalidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tratamientos Conservadores del Órgano/métodos , Tratamientos Conservadores del Órgano/mortalidad , Páncreas , Pancreaticoduodenectomía/mortalidad , Pronóstico , Estudios Retrospectivos , Medición de Riesgo , Estadísticas no Paramétricas , Análisis de Supervivencia , Resultado del Tratamiento
17.
Dis Colon Rectum ; 62(7): 781-785, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31188177

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon/cirugía , Neoplasias del Colon/cirugía , Vigilancia de la Población , Neoplasias del Recto/cirugía , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/genética , Adulto , Colectomía , Colonoscopía , Detección Precoz del Cáncer , Femenino , Humanos , Procedimientos Quirúrgicos Profilácticos
18.
Dig Dis ; 37(5): 374-380, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30921797

RESUMEN

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.


Asunto(s)
Adenoma/terapia , Neoplasias Duodenales/terapia , Adenoma/patología , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/terapia , Colonoscopía , Neoplasias Duodenales/diagnóstico por imagen , Humanos , Estudios Retrospectivos
19.
Clin Nucl Med ; 44(3): 262-264, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30589675

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Femenino , Fluorodesoxiglucosa F18 , Humanos , Radiofármacos , Adulto Joven
20.
Am J Gastroenterol ; 113(12): 1881-1890, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30333551

RESUMEN

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.


Asunto(s)
Poliposis Adenomatosa del Colon/cirugía , Neoplasias Colorrectales/prevención & control , Modelos Biológicos , Procedimientos Quirúrgicos Profilácticos/estadística & datos numéricos , Medición de Riesgo/métodos , Tiempo de Tratamiento , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/patología , Adolescente , Adulto , Colonoscopía/estadística & datos numéricos , Femenino , Estudios de Seguimiento , Humanos , Internet , Masculino , Guías de Práctica Clínica como Asunto , Procedimientos Quirúrgicos Profilácticos/normas , Curva ROC , Sistema de Registros/estadística & datos numéricos , Espera Vigilante/normas , Espera Vigilante/estadística & datos numéricos , Adulto Joven
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