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Poliposis adenomatosa familiar atenuada: Entidad controvertida  [cached]
Jorge Mario Castro,Carlos E Martínez,Jose A Hormaza,Jaime Escobar C
Revista Colombiana de Gastroenterologia , 2004,
Abstract: La poliposis adenomatosa familiar es una patología recientemente descrita y hasta cierto punto desconocida por el grupo médico, se encuentran en la literatura principalmente reportes de casos y existe controversia sobre si es una patología propiamente dicha o la podemos ubicar en la mitad de un espectro que iría de pólipos adenomatosos aislados hasta la poliposis adenomatosa familiar clásica y el cáncer. Los grupos que la consideran una entidad separada, afirman que es una variante de la poliposis adenomatosa familiar clásica, en la cual la expresión fenotípica es menor en lo referente al número de pólipos. Se ha identificado la mutación del gen APC responsable de su aparición y se ha tipificado el lugar específico del gen donde se produce, el número de pólipos es menor de 100, se ubican principalmente proximales al ángulo esplénico y el estudio histológico muestra con mayor frecuencia adenomas tubulares con displasia de bajo grado. El tratamiento puede ir desde la polipectomía hasta la colectomía total. A propósito de algunos casos manejados en nuestro servicio, la mayoría de ellos con polipectomía y seguimiento estricto, decidimos hacer una revisión de la literatura, destacando los aspectos más relevantes de su etiología, diagnóstico y tratamiento. Attenuated Familial Adenomatous Polyposis is an entity poorly understood for medical groups, is a variant of Familial Adenomatous Polyposis, characterized by fewer colorectal polyps, begin of polyps and cancer in later age than classic variant, and predilection for proximal ubication. Colonoscopy shows multiple flat adenomas, and histopathology is characterized by tubular adenomas with displasia in high percentage. Diagnosis is difficult for abscence of specific finding or genetic proube, must be based in clinical and endoscopy findings, and treatment varies from polypectomy to total colectomy. In this review we present the history, etiology, clinical presentation, diagnosis, and treatment of this pathology, and the experience with this pathology in our sevice.
Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included Registro Andaluz de la Poliposis Adenomatosa Familiar: Análisis de los pacientes incluidos  [cached]
M. Garzón Benavides,A. Pizarro Moreno,R. García Lozano,M. I. Herrero Garrido
Revista Espa?ola de Enfermedades Digestivas , 2010,
Abstract: Objective: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. Material and methods: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. Results: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51) and 46 relatives at risk with a mean age of 21.8 years (6-55). Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC) at the time of diagnosis (32.2%). Only two affected relatives showed CRC at diagnosis (4.3%), a statistically significant difference (p < 0.05). Gastrointestinal involvement was observed in 30/61 (49%), desmoid tumors in 7/77 (9.1%) and congenital hypertrophy of the retinal pigment epithelium in 23/55 (65.7%). 86.7% of patients with this alteration showed mutations between codons 454 and 1019, with a statistically significant correlation ((p< 0.05). Conclusions: The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin. It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives. The correlation between congenital hypertrophy of the retinal pigment epithelium with some mutations is the only phenotypic-genotypic correlation with statistical significance. Objetivos: Valorar las características fenotípicas y genotípicas de los pacientes incluidos en el Registro Andaluz de la poliposis adenomatosa familiar, la relación genotipo/fenotipo y el impacto del Registro en la frecuencia de cáncer colorrectal de los familiares registrados. Material y métodos: Estudio descriptivo de 77 pacientes con PAF, pertenecientes a 33 familias, incluidos en una base de datos centralizada a la que tienen acceso los responsables de los hospitales participantes, previa firma de cartas de confidencialidad. Todos los estudios genéticos se realizan en el Servicio de Inmunología de nuestro Hospital. Resultados: 77 pacientes registrados (50,6% varones): 31 probandos, edad media: 32 a os (13-51) y 46 familiares afectos, e
Clinical and ethical implications of genetic counselling in familial adenomatous polyposis Implicaciones clínicas y éticas del consejo genético en la poliposis adenomatosa familiar  [cached]
A. Fernández-Suárez,C. Cordero Fernández,R. García Lozano,A. Pizarro
Revista Espa?ola de Enfermedades Digestivas , 2005,
Abstract: The association of specific genetic disturbances with the development of hereditary cancer helps us to understand the risk of suffering from it, the possibility of an earlier diagnosis, and the treatment and prevention of this disease. Familial adenomatous polyposis (FAP) is a pre-neoplastic syndrome characterized by the presence of hundreds of adenomatous polyps in the colon, which develop into a carcinoma. FAP can be diagnosed using sequencing techniques to detect mutations in the germinal line of the APC (adenomatous polyposis coli) gene. The genetic diagnostic approach in families with FAP, previously followed up in the Gastrointestinal Clinic, has both advantages and disadvantages, and places us nearer the disease and patient. Disclosing the results of this genetic test entails relevant problems in clinical practice, which affect the health field and raise legal and ethical issues, along with the familial, occupational, and social implications that knowing the genetic status can have on the patient. Genetic analysis is rare in normal clinical practice, which involves errors in the interpretation of the results obtained, and during the process of genetic counselling. Specialized multidisciplinary units are necessary for the management of patients with FAP undergoing analysis and appropriate genetic counselling, thus providing an individualized service. The creation of FAP registers and protocols for this healthcare process should optimize the management of these patients and their families. La asociación de determinadas alteraciones genéticas con la aparición de cáncer hereditario, nos permite conocer el riesgo de padecerlo, posibilitando el diagnóstico precoz, el tratamiento y la prevención de la enfermedad. La poliposis adenomatosa familiar (PAF) es un síndrome preneoplásico que se caracteriza por la presencia de cientos de pólipos adenomatosos en colon, que evolucionarán hacia carcinoma. La PAF puede ser diagnosticada mediante técnicas de secuenciación que detectan mutaciones en la línea germinal del gen APC (adenomatous poliposis coli). El abordaje del diagnóstico genético en familias con PAF seguidas previamente en la consulta de digestivo, ha permitido poner de manifiesto tanto las ventajas como los inconvenientes de esta forma de acercarnos a la enfermedad y a los pacientes. La revelación de los resultados de la prueba genética comporta importantes problemas en la práctica clínica, que afectan tanto al ámbito sanitario, como al ético y legal, además de las implicaciones familiares, laborales y sociales que el conocimiento del status genético
Evaluación económica de la prueba genética de la poliposis adenomatosa familiar An economic assessment of genetic testing for familial adenomatous polyposis  [cached]
A. Olry de Labry Lima,L. Sordo del Castillo,L. García Mochón,D. Epstein
Revista Espa?ola de Enfermedades Digestivas , 2008,
Abstract: Objetivo: analizar el coste-utilidad de la prueba genética a familiares de primer grado de pacientes con cáncer de colon para determinar mutaciones del gen APC (Adenomatous Polyposis Coli). Metodología: los análisis se realizaron desde el punto de vista del sistema sanitario. Se utilizó un modelo de Markov. Realización de la prueba genética para el gen APC, causante de la poliposis adenomatosa familiar (PAF), que produce cáncer de colon frente a la no realización de la misma. La medida de efectividad utilizada fueron los a os de vida ajustados por calidad (AVAC) y la unidad de coste los euros de 2005. Los costes de las intervenciones fueron extraídos de los precios públicos de los servicios sanitarios prestados por centros dependientes del Sistema Sanitario Público Andaluz y los valores de la efectividad y de utilidad de la literatura. Resultados: la realización de la prueba genética se muestra como una estrategia dominante a la no realización de la misma, ya que esta última tiene un coste incremental de 7.676,34 €, además de una menor efectividad. Los análisis de sensibilidad mostraron que la realización de la prueba genética se mantiene como la estrategia dominante dentro de un amplio rango de coste de la prueba y de probabilidad de desarrollar adenocarcinomas. Conclusiones: los análisis mostraron que, para este grupo de pacientes, la realización de la prueba genética para la detección de la mutación del gen APC es en promedio menos costosa y además produce una mejora en AVAC comparado con la no realización de la misma. Objective: to analyze the cost-effectiveness of genetic testing for first-degree relatives of patients with colon cancer to identify mutations in the APC gene (Adenomatous Polyposis Coli). Methodology: analyses were performed from the perspective of the health system. We used a Markov model. We compared genetic testing for the APC gene, the cause of familial adenomatous polyposis (FAP), which results in colon cancer, versus no genetic testing for said gene. The effectiveness measure used was quality-adjusted life-years (QALYs), and costs were measured in euros for 2005. The costs of interventions were extracted from the costs of health services provided by centers under the Andalusian Public Health System, and other parameters were obtained from the literature. Results: the performance of genetic testing is the dominant strategy when compared to the absence of genetic testing given the latter option has an incremental cost of € 7,676.34 and is less effective. A sensitivity analysis found that genetic testing remains the dominant strate
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation
Ioannidis,Orestis; Paraskevas,George; Chatzopoulos,Stavros; Kotronis,Anastasios; Papadimitriou,Nikolaos; Konstantara,Athina; Makrantonakis,Apostolos; Kakoutis,Emmanouil;
Revista Espa?ola de Enfermedades Digestivas , 2012, DOI: 10.4321/S1130-01082012000300009
Abstract: familial adenomatous polyposis (fap) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. the syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. the syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (apc) gene. we present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline apc mutation, the w421x mutation, which resulted in fap presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
Seguimiento posquirúrgico de los pacientes con poliposis adenomatosa familiar: resultados en una población del sur de Espa a Follow-up after surgical treatment of patients whit familial adenomatous polyposis: Results in Southern Spanish population  [cached]
C. Cordero Fernández,A. Pizarro Moreno,M. Garzón Benavides,R. García Lozano
Revista Espa?ola de Enfermedades Digestivas , 2007,
Abstract: Objetivo: analizar la evolución de la mucosa rectal y del reservorio así como idoneidad de los intervalos de seguimiento y del tratamiento realizado para evitar la aparición del cáncer, en una serie de pacientes con poliposis adenomatosa familiar (PAF), intervenidos. Método: estudio prospectivo de 28 pacientes con PAF intervenidos mediante anastomosis íleo-rectal (20 pacientes) y anastomosis íleo-anal con reservorio (8 pacientes). A todos se les había realizado un control endoscópico dos veces al a o y análisis del número y características macroscópicas e histológicas de los pólipos antes y después de la cirugía así como del tratamiento realizado, de sus complicaciones y de la adecuación del intervalo de seguimiento. El seguimiento medio fue de 6,47 a os (DE = 4,59; rango = 0,72-16,75 a os). Resultados: ninguno de los 26 pacientes que cumplimentaron correctamente el protocolo de seguimiento desarrolló cáncer. Sólo dos pacientes lo desarrollaron al 1,75 y los 3 a os, respectivamente del abandono del protocolo. Los pacientes que desarrollaron adenomas durante el seguimiento fueron tratados con éxito mediante polipectomía endoscópica, salvo en dos casos que se indicó cirugía. Conclusiones: en nuestra serie, el incumplimiento de las revisiones ha sido el factor que ha condicionado la aparición de cáncer. Objective: the study was to assess changes in the rectal mucosa and pouch in a series of patients with familial adenomatous polyposis (FAP) who underwent either subtotal colectomy and ileorectal anastomosis (IRA) or proctocolectomy and ileal pouch-anal anastomosis (IPAA), and to evaluate the suitability of the follow-up interval and postoperative treatment employed to prevent the development of cancer. Method: this study involved 28 patients with FAP who underwent IRA (n=20) or IPAA (n=8), and were followed endoscopically over a mean period of 7.47 years. The number and both macroscopic and histological features of polyps before and after surgery, the treatment, and complications were all analyzed. The suitability of the follow-up interval was assessed. Results: none of the 26 patients who complied with follow-up developed rectal cancer. Two patients developed rectal cancer at 21 and 36 months after withdrawing from the protocol. Except in two cases in which surgery was indicated, patients who developed adenomas during follow-up were treated by endoscopic polypectomy. Conclusions: in our series, the failure to comply with follow-up examinations was associated with cancer development.
Tumor desmoide: reporte de un caso
Marel Gómez,Hermes González,Luis Castellano,Glenda García
Revista Venezolana de Oncología , 2008,
Abstract: El tumor desmoide es una neoplasia rara de tejidos blandos que se desarrolla a partir de músculo, tejido conectivo, fascia y aponeurois. Se presenta esporádicamente y más frecuentemente en mujeres. El caso que se presenta concierne a paciente femenina de 27 a os que fue sometida a escisión radical de una gran masa que infiltraba músculo recto abdominal, diagnosticada como tumor desmoide. Aunque tiene características benignas, es de naturaleza infiltrativa y se comporta como una masa localmente agresiva, la cual puede invadir estructuras adyacentes haciendo que la resección quirúrgica sea difícil. El único tratamiento viable es la cirugía amplia dejando bordes sanos, esto causa gran defecto de pared y por tanto serios problemas en la reconstrucción. Además, la tasa de recurrencias locales varía y depende de la edad del paciente, localización y los márgenes de resección. Desmoid tumor is quite rare soft tissues neoplasm that develops from muscle connective tissue, fasciae and aponeuroses. This neoplasm occurs in sporadic and more frequent in women than men. The presented case report refers to young female (27 years old), who underwent the radical excision of a large desmoid tumour infiltrating the right rectus muscle of the abdomen. Although desmoid is classified pathologically as a benign tumour, its infiltrative nature leads to a locally aggressive mass, which can invade surrounding structures and organs making surgical resection difficult. The only radical treatment for her was the surgical resection carried out far from the tumour borders into the healthy tissues. This resection causes wide muscle-fascial defects determining serious reconstructive problems. Futhermore, overall local recurrence rates vary and depend on patient’s age, tumour location and margins at resection.
Valor de la ortopantomografía en la poliposis familiar de colon
Graciela Jiménez Mesa,María Aurora López Barbán,Olga Hano García
Revista Cubana de Medicina , 1996,
Abstract: El hecho de existir entre nuestros pacientes varias familias con poliposis cólica familiar nos motivó a realizarles estudios panorámicos de mandíbula, en busca de osteomas. Nuestro material estuvo constituido por 9 miembros con poliposis adenomatosa familiar, 3 con síndrome de Peutz-Jeghers y 2 con poliposis juvenil familiar. Como grupos testigos, 55 pacientes normales y 28 con lesiones polipoideas no familiares. Observamos osteomas en: 78 % de las poliposis familiares, 3,5 % de las no familiares y en el 7,2 % de los testigos normales. La prueba de probabilidad de Fisher dio diferencias significativas entre la poliposis adenomatosa familiar y los testigos normales y las poliposis no familiares. Un paciente con poliposis adenomatosa familiar presentó lesiones dentarias (7,1 %). Se recomienda estudio panorámico de mandíbula a todos los casos de poliposis familiares y a los miembros sin pólipos de esta familia, así como el estudio, por el gastroenterólogo, de aquellos casos con osteomas mandibulares, a fin de diagnosticar precozmente la presencia de una poliposis. Several families presenting with familial polyposis coli among our patients were studied by a panoramic study of the mandible in order to know whether they had osteomas. The material of this study consisted of 9 family members presenting with familial adenomatous polyposis, 3 with Peutz-Jeghers syndrome, 2 with familial juvenile polyposis, and 28 with non-familial polypoid lesions. Osteomas were observed in 78 % of patients with familial polyposis, in 3.5 % of cases with non-familial polyposis, and in 7.2 % of the control group. Fisher's probability test yielded significant differences between cases with familial adenomatous polyposis and the control group, and cases with non-familial polyposis. One patient presenting with familial adenomatous polyposis had dental lesions (7.1 %). It is recommended to carry out a panoramic study of the mandible in all cases having familial polyposis and in all family members without polyps, as well as to study, by the gastroenterologist, those cases presenting with mandibular osteomas with the aim of making an early diagnosis of the disease.
Poliposis adenomatosa familiar atenuada: Entidad controvertida
Revista Colombiana de Gastroenterologia , 2004,
Abstract: attenuated familial adenomatous polyposis is an entity poorly understood for medical groups, is a variant of familial adenomatous polyposis, characterized by fewer colorectal polyps, begin of polyps and cancer in later age than classic variant, and predilection for proximal ubication. colonoscopy shows multiple flat adenomas, and histopathology is characterized by tubular adenomas with displasia in high percentage. diagnosis is difficult for abscence of specific finding or genetic proube, must be based in clinical and endoscopy findings, and treatment varies from polypectomy to total colectomy. in this review we present the history, etiology, clinical presentation, diagnosis, and treatment of this pathology, and the experience with this pathology in our sevice.
Tumor desmoide abd?mino-pélvico
Valejo, Fernando Antonio Mour?o;Tiezzi, Daniel Guimar?es;Nai, Gisele Alborguetti;
Revista Brasileira de Ginecologia e Obstetrícia , 2009, DOI: 10.1590/S0100-72032009000100007
Abstract: desmoid tumor is a noncapsulated neoplasia, locally aggressive, originated from the fibroblasts of the musculo-aponeurotic tissues. even though with no malignant behavior, such as the ability of generating metastasis or of invasion, the desmoid tumor has a high tendency for local growth, causing deformities in the adjacent organs, pain and sometimes organ dysfunction, depending on the area involved. we report the case of a large intra-abdominal desmoid tumor, invading pelvic organs in a 53 year-old patient. the neoplasia has been totally extirpated and, at the moment, five years after the surgery, the patient presents no clinical or radiologic sign of lesion relapse.
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