Poliposis gigante de colon como forma de presentación de colitis ulcerativa ideopática. Reporte de caso / Giant polyposis of colon as a presentation form of the idiopathic ulcerative colitis. Case report

RESUMEN La poliposis gigante localizada es una complicación rara de la colitis ulcerativa ideopática de corta evolución. Esta lesión representa un acumulo localizado de pólipos que forman una masa colónica intraluminal de aspecto neoplásico que puede simular un cáncer de colon. Suele presentarse en los adultos jóvenes y es más común en los países desarrollados con una incidencia cada vez mayor. Se presentó un caso de pólipos inflamatorios gigantes (PIG) de recto sigmoides que ingresa como un probable tumor de recto cuyas manifestaciones clínicas fueron semejantes a la de cualquier enfermedad inflamatoria. El paciente desarrolló esta masa inflamatoria sobre una enfermedad inflamatoria intestinal de poco tiempo de evolución clínica, con buena respuesta al tratamiento medicamentoso (AU).

ABSTRACT The located giant polyposis is rare complication of idiopathic ulcerative colitis of short evolution. This lesion is a localized accumulation of polyps forming an intra luminal colon mass of neoplastic aspect that might simulate a colon cancer. It is usually found in young adults, and it is more common in developed countries with a higher and higher incidence. We presented a case of giant inflammatory polyps (PIG as acronym in Spanish) of sigmoid rectum that entered the hospital as a probably rectum tumour, the clinical manifestations of which were similar to others of any inflammatory disease. The patient developed an inflammatory mass on a, intestinal inflammatory disease of short time clinical evolution, with a good answer to the medicinal treatment (AU).

CLINICAL, EPIDEMIOLOGIC, AND ENDOSCOPIC PROFILE IN CHILDREN AND ADOLESCENTS WITH COLONIC POLYPS IN TWO REFERENCE CENTERS

Background - The main goal of this paper is to investigate the frequency, clinical profile, and endoscopic findings of children and teenagers submitted to colonoscopies. Methods - Patients of below 18 years of age, diagnosed with polyps by means of colonoscopies at two reference centers of pediatric endoscopy were followed-up between 2002 and 2012. The clinical variables evaluated in this study included: gender, recommendation of colonoscopy, associated signs and symptoms, age of onset of symptoms, age at identification of the polyp, interval of time between the onset of symptoms and the endoscopic diagnosis of colonic polyps, and family history of intestinal polyposis and/or colorectal cancer. The characteristics of the polyps also included: number, morphological type, histology, and distribution. Polyposis syndromes were also investigated. Results - From the 233 patients submitted to colonoscopies, polyps were found in 74 (31.7%) patients, with a median age of 6.6 years, of which 61% were male. Juvenile polyps were identified in 55 (74%) patients, with 7 (9%) characterized within the criteria for juvenile polyposis. Patients with intestinal polyposis syndromes were diagnosed in 35% of the patients. The most frequent clinical presentation was hematochezia. Abdominal pain with acute episodes of intestinal partial obstruction or intussusception with emergency laparotomy was observed in the majority of Peutz-Jeghers syndrome patients leading to an increased morbidity. Conclusions - Even though juvenile colonic polyps are the most frequent type of diagnosed polyps, the present study identified a significant level of children with polyposis syndromes (35%), associated with a higher morbidity of these individuals.

Objetivos - Conhecer a frequência, o perfil clínico, os achados endoscópicos, de crianças e adolescentes submetidos à colonoscopia em dois centros de referência em gastroenterologia e endoscopia pediátrica. Métodos - Foram avaliados e acompanhados pacientes com idade menor ou igual a 18 anos com diagnóstico de pólipos identificados à colonoscopia em dois centros de referência em endoscopia pediátrica no período de 2002 a 2012. As variáveis clínicas avaliadas foram: gênero, indicação da colonoscopia, sinais e sintomas associados, idade de início dos sintomas, idade à identificação do pólipo, intervalo de tempo entre início dos sintomas e diagnóstico endoscópico do pólipo colônico, história familiar de polipose intestinal e/ou câncer coloretal. Em relação às características dos pólipos foram descritos: número, tipo morfológico, histológico e distribuição. Foram estudadas também as síndromes poliposas (síndrome de Peutz-Jeghers, síndrome juvenil poliposa, síndrome poliposa adenomatosa familiar). Resultados - Dos 233 pacientes submetidos à colonoscopia, foram encontrados 74 (31,7%) pacientes com pólipos, com mediana de idade de 6,6 anos, 61% do gênero masculino. Pólipos juvenis foram identificados em 55 (74%) dos pacientes, sendo 7 (9%) com critérios diagnósticos de polipose juvenil. Pacientes com síndromes poliposas intestinais foram diagnosticados em 35% dos pacientes. Destes, 12% com diagnóstico de polipose adenomatosa familiar, 9% com síndrome juvenil poliposa e 8% com diagnóstico de Síndrome de Peutz-Jeghers. A apresentação clínica mais frequente foi o sangramento retal indolor. Nos pacientes com polipose adenomatosa familiar o principal motivo da indicação da colonoscopia foi para rastreamento da doença devido história familiar da síndrome poliposa. Um paciente apresentou adenocarcinomacoloretal, simultâneo ao diagnóstico da polipose adenomatosa aos 15 anos de idade. Dor abdominal com episódios agudos de semiobstrução ou intussuscepção intestinal com laparotomia de urgência foi observado nos pacientes com Peutz-Jeghers. Conclusões - Embora os pólipos colônicos juvenis sejam os mais frequentemente diagnosticados, foi observado um percentual significativo de crianças com síndromes poliposas (35%) associado a uma maior morbidade destas crianças. Desta forma concluímos ser importante estabelecimento de um protocolo de diagnóstico e seguimento dos pacientes afetados e familiares de risco.

Adenomatous polyposis coli gene large deletions in Iranian patients with familial adenomatous polyposis.

Context: Familial adenomatous polyposis (FAP) is one type of hereditary colon cancer with a large number of precancerous polyps that initiation to growth in childhood and adolescent. Mutation in adenomatous polyposis coli (APC) gene is the cause of FAP. Aims: The aim of the current study was to standardize multiplex ligation probe amplification (MLPA) method in screening of APC large deletions for the first time in Iranian patients with FAP. Subjects and Methods: Deoxyribonucleic acid was extracted from 34 FAP patients by saluting out method. All patients were screened for APC large deletions whit MLPA and for the positive results, respective region was investigated by polymerase chain reaction sequencing. All genetic alterations were doubled checked in two separated rounds of MLPA. Results: The detection rate of large fragment deletions in APC was 5.8% (2/34). Both of the Iranian patients had deletion in the middle and the end of exon 15, however, comparing of clinical features between patient with the large deletion and patients without deletion did not show any significant difference in each variable including, age at diagnosis, signs of disease and poly type. Conclusions: It seems that exon 15 of APC gene is probably the hotspot region in Iranian FAP patients. Association of genotype/phenotype is well known in FAP patients, but in this study statistical analyses did not show a significant difference in each considerable factor between patients with and without large deletions. It seems better to consider MLPA as an initial step to screening APC mutations.

Prevención del cáncer colorrectal: impacto de la implementación de un registro de poliposis familiar / Colorectal cancer screening: impact of a poliposis register

Antecedentes: La PAF es una enfermedad hereditaria caracterizada por la presencia de cientos de pólipos adenomatosos colorrectales con un riesgo cercano al 100% de cáncer. El establecimiento de Registros organizados ha demostrado ser de utilidad tanto en la prevención como en la detección precoz de CCR en este grupo. Objetivos: Evaluar el impacto de la citación sistemática en la disminución de la incidencia de CCR en individuos con riesgo para PAF. Comparar el estadio tumoral al momento del diagnóstico, la edad y la sobrevida a los 5 y 10 años entre individuos citados (IC) y de consulta espontánea (CE). Pacientes y métodos: Análisis retrospectivo de la base de datos del Registro de Poliposis del Hospital Dr. Carlos Bonorino Udaondo, constituido en 1995. Dividiendo a la población en dos grupos G1: desde 1975 a 1995 y G2: desde 1995 al 2010. Análisis del número de pacientes con cáncer al momento del diagnostico en los IC y CE en ambos periodos. En aquellos que presentaban adenocarcinoma se analizo la edad de aparición, el estadio tumoral y la sobrevida a los 5 y 10 años. Resultados: Hasta 1995 habia registrados 137 pacientes con PAF; IC 45 de ellos 20% (9) presentaban cáncer al momento del diagnóstico y de los CE el 57%. Desde 1995 a la fecha hay 1804 individuos registrados, 458 con PAF (308 familias). IC 418 detectándose PAF con CCR en 11 (2.6%) y 211 fueron CE encontrando PAF con CCR en 99 (46,9%). En el grupo de IC con CCR el 75% de ellos presentaban estadios tumorales tempranas (El 58.3%, EII 6.7%), en los CE solo el 57,8% fueron estadios tempranas. Conclusiones: Desde que se estableció el Registro y se efectuó una citación sistemática de familiares, la frecuencia de CCR ha disminuido considerablemente entre IC (2.8% vs 20%) con diferencias estadísticamente significativas. El Registro además permitió efectuar un diagnostico precoz de enfermedad en los IC con una disminución de los porcentaje de estadios tardios.

Background: Familial adenomatons polyposis (FAP) is an autosomal dominant inherited disease characterized by hundreds of adenomatous polyps in the large intestine. Nearly 100% affected untreated will have colorectal cancer. The establishment of a Poliposis Registry has demonstrated decrease considerably CCR in FAP. Objetives: The aim of the present study was to evaluate changes in the incidence all CRC, before and after the establishment of the registry. Evaluate tumoral staging, aged and survival rate at 5 and 10 years in call-up patient (CP) and probans (P) with CCR. Patients and methods: A retrospective analysis of Hospital Udaondo Registry database was done. The Registry was established in 1995. The patíents were divided in two groups. G1: since 1975 until 1995 and G2 between 1995 and 2010. Results: At 1995 The Hospital Udaondo Registry included 137 patients with FAP; CP 45 - 9 with CCR (20%) and P with CCR 57% at the diagnosis moment. Since 1995 until 2010 has been included 1804 persons, 458 with FAP. Call-up Patients 418. 11 with PAF and CCR (2.8%) and 211 probans. 99 with CCR (46.9%). 75% of the CP with CCR had early stage (El 58.3%. EII 16.7%) while in the P only 57,8% were early stage. Conclusions: Since the establishment of the registry, the frequency of CRC has decreased considerably (2.8% vs 20%).

Distribution of cancer and adenomatous polyps in the colorectum: study in an Iranian population.

OBJECTIVE: There is consensus that the majority of colorectal carcinomas (CRCs) arise from adenomatous polyps. Therefore, for management of colorectal cancer, diagnosis and endoscopic resection of adenomas is advised. If the same etiologic factors are operating for polyps and cancers their anatomical distributions should be the same. The present study was conducted to determine whether the distribution of adenomas is consistent with that of CRCs and for comparison with other studies, especially in Western populations. MATERIALS AND METHODS: We reviewed, retrospectively , endoscopically reported anatomic sites of all adenomatous polyps and CRCs which were histologically confirmed from Jan 1992 to Dec 2005 in Tabriz, the North-west of Iran. One hundred and forty-three CRC's and 180 adenomatous polyps (in 145 patients) were found. Patients with polyposis syndromes were excluded the analysis. Age and sex of patients, size and anatomic sites of polyps and cancers were studied. RESULTS: The average ages of patients with adenomas and cancers were 46.3(SD 14.7) and 53.9(SD 13.3)years, with 55.5% and 62.2% in males, respectively. In both cancer and adenoma cases the most common presenting symptoms were rectal bleeding and bloody diarrhea ( 52.4% , 16.9% and 39.2% , 15.8% for cancers and adenomas, respectively) without any significant difference(0>05). The vast majority of adenomas (85%) and cancers (81.7%) were left sided (p>0.05). The propensity for polyps to be found in the descending colon was of borderline significance (p=0.07). The cecal segment uniquely demonstrated cancers(p=0.01) without any polyps. CONCLUSION: A similar anatomic distribution pattern and left shift of colorectal adenomas and cancers in this Iranian population is compatible with most other Asian countries. However, because of the occurrence of the neoplasms in the right colon total colonoscopy should still be considered for screening purposes.

Familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is a rare disorder associated with less than 1% of colorectal carcinomas (CRCs). Since FAP is a potentially preventable cause of CRC clinicians should have an adequate knowledge of it to identify the disease and to manage the patient and family. FAP is an autosomal dominant inherited disorder characterised by the development of more than a hundred adenomatous polyps in the colon and rectum which can undergo malignant change. Children of an affected individual are at 50% risk of inheriting the predisposing gene. After the identification of an index patient, genetic testing in combination with the detection of extra-colonic manifestations allows more accurate identification of family members likely to have the faulty gene, enabling the targetting of screening and preventive surgery only to those at risk. FAP also provides insights into the development, progression and prevention of sporadic CRC.

Registro de poliposis familiar del Hospital de Gastroenterología / Familial polyposis registry of the Gastroenterology Hospital

Antecedentes: La Poliposis Adenomatosa Familiar (P.A.F.) es una enfermedad preneoplásica por excelencia. Objetivos:-Difundir la creación del Registro de P.A.F. -Informar en que consiste el registro. -Explicar los objetivos principales del registro. Población: Registro de P.A.F. que incluye 74 familias, totalizando 137 pacientes de los cuales 100 fueron intervenidos quirúrgicamente. Resultados: - Prevención del cáncer del recto remanente mediante el seguimiento estricto de los pacientes. - Aumento de la consulta espontánea de familiares directos asintomáticos de pacientes portadores de P.A.F. - Disminución de la aparición de cáncer colorrectal. Conclusiones: El registro es útil para normatizar el estudio, tratamiento y seguimiento de la P.A.F. y controlar a los familiares directos, disminuyendo el cáncer colorrectal en la P.A.F...