The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis

SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diagnosed with a cribriform-morular variant of PTC and FAP. We aimed to assess the genetic background of the reported patient, looking for variants that would help us explain the predisposition to tumorigenesis. Genomic DNA was extracted from peripheral blood lymphocytes, and whole exome sequencing was performed. We applied an overrepresentation and gene-set enrichment analysis to look for an accumulation of effects of variants in multiple genes at the genome. We found an overrepresentation of single nucleotide variants (SNVs) in extracellular matrix interactions and cell adhesion genes. Underrepresentation of SNVs in genes related to the regulation of autophagy and cell cycle control was also observed. We hypothesize that the package of alterations of our patient may help to explain why she presented colonic manifestations and thyroid cancer. Our findings suggest that multiple variants with minor impact, when considered together, may be helpful to characterize one particular clinical condition.

AXIN2-associated adenomatous colorectal polyposis

Abstract: Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ~3% to 6% of all CRCs are related to inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The adenomatous polyposis coli (APC) andmutY DNA glycosylase (MUTYH) germline mutations are the main genetic causes related to colorectal polyposis. Nevertheless, in many cases mutations in these genes have not been identified. The aim of the present case report is to describe a rare case of genetic colorectal polyposis associated with the axis inhibition protein 2 (AXIN2) gene. Case Report: The first colonoscopy screening of a 61-year-old male patient with no known family history of CRC revealed ~ 50 colorectal polyps. A histological evaluation of the resected polyps showed low-grade tubular adenomas. Germline genetic testing through a multigene panel for cancer predisposition syndromes revealed a pathogenic variant in the AXIN2 gene. In addition to colorectal polyposis, the patient had mild features of ectodermal dysplasia: hypodontia, scant body hair, and onychodystrophy. Discussion: The AXIN2 gene acts as a negative regulator of the Wnt/β -catenin signaling pathway, which participates in development processes and cellular homeostasis. Further studies are needed to support the surveillance recommendations for carriers of the AXIN2 pathogenic variant. (AU)

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).

Síndrome de Turcot / Turcotꞌs syndrome

RESUMEN Se presenta a una paciente de 27 años de edad, con varios ingresos en el Hospital Provincial Clínico Quirúrgico Docente “José Ramón López Tabrane”, de Matanzas. Por presentar clínica compatible con pólipos de colon, corroborados por videocolonoscopia, diagnosticados en marzo de 2015. Posteriormente reingresa a los 14 meses por convulsiones, al inicio generalizado y luego limitado al hemicuerpo derecho, cefalea universal y vómitos. Falleció a los 23 días de su ingreso, en los antecedentes patológicos familiares destaca madre fallecida a los 52 años por cáncer de colon y hermana a los 21 años por neoplasia maligna colorectal (AU).

ABSTRACT The case of a female patient, aged 27 years is presented. She was in-patient in the Teaching Clinical Surgical Provincial Hospital “José Ramón López Tabrane”, of Matanzas for several times presenting clinical characteristics compatible polyps in the colon, corroborated by video colonoscopy, and diagnosed in March 2015. She was readmitted 14 months later because of convulsions, generalized firstly and lately limited to the right side of the body, universal headache and vomits. She died 23 days after the admittance. The family history shows that her mother died when she was 52, due to colon cancer and her sister died at twenty one due to colorectal malignant neoplasia (AU).

Poliposis adenomatosa familiar: a propósito de 2 casos / Familiar Adenomatous Polyposis: Report of 2 Cases

La poliposis adenomatosa familiar (PAF) se basa en una mutación autosómica dominante de pérdida de la función en el gen supresor tumoral APC. El síndrome de Gardner es un tipo de PAF y está caracterizado por múltiples pólipos adenomatosos colónicos además de anormalidades extracolónicas como tumores desmoides, osteomas, lipomas, anormalidades dentales, quistes dermoides y adenomas duodenales. Este reporte tiene como propósito presentar dos casos referentes a PAF. El primer caso, trata de un paciente con osteomas e historia de hematoquezia, con diagnóstico de sindrome de Gardner posterior a la colonoscopia. El segundo caso es un paciente con historia familiar de cáncer de colon, que al examen colonoscópico se le diagnostica PAF con adenocarcinoma tubular bien diferenciado. Se decide reportar los casos debido a que son los primeros reportes en el Perú sobre esta entidad

Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of the APC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy. The second patient has a family history of colon cancer, who is diagnosed with FAP with tubular adenocarcinoma. We decide to report both cases due to the absence of previous reports in Peru

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.

Poliposis adenomatosa familiar / Family adenomatous polyposis

La Poliposis Adenomatosa Familiar (PAF) es una enfermedad hereditaria autosómica dominante, se caracteriza por el desarrollo de pólipos adenomatosos en el intestino grueso (más de 100), que invariablemente evolucionan al cáncer. Los pólipos aparecen a partir de la pubertad y el cáncer sobreviene antes de los 50 años, por tanto requieren diagnóstico temprano y tratamiento inmediato. La proctocolectomía total es el tratamiento de elección. Se presentan una serie de seis casos atendidos desde febrero de 2012 a julio del 2013.

Familial Adenomatous Polyposis (FAP) is an autosomal dominant inherited disease, characterized by the development of adenomatous polyps in the large intestine (over 100), which invariably evolving cancer. Polyps appear after puberty and cancer occurs before age 50, thus requiring early diagnosis and immediate treatment. Total proctocolectomy is the treatment of choice. A series of six cases treated from February 2012 to July 2013 are presented.

Poliposis adenomatosa familiar: presentación de un caso y revisión de la literatura / Familial adenomatous polyposis: case report and literature review

Colorectal cancer (CRC) is a genetic and epigenetic disease. Approximately one third of the CRC has an hereditary component. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition that has its origins in the line of APC gene mutation, which occurs with a frequency of approximately 1:10,000 live births. We report a case of a patient of 25 years with FAP. This review provides current knowledge on the broad clinical spectrum of this disease, also referring to the optimal method of diagnosis, differential diagnosis and management.

El cáncer colorrectal (CCR) es una enfermedad genética y epigenética. Aproximadamente un tercio del CCR tiene un componente hereditario. La poliposis adenomatosa familiar (PAF) es una condición hereditaria autosómica dominante que tiene su origen en la línea de mutación del gen APC, el cual ocurre con una frecuencia aproximada de 1:10.000 nacidos vivos. Se reporta el caso de una paciente de 25 años con PAF. La presente revisión proporciona los conocimientos actuales sobre el amplio espectro clínico de esta enfermedad, refiriéndose también al método óptimo de diagnóstico, diagnóstico diferencial y su manejo.

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%).

Poliposis adenomatosa familiar: importancia de la pesquisa en los ascendientes: presentación de casos / Familial adenomatous polyposis (FAP): the importance of searching cases in past relatives: presentation of cases

La poliposis adenomatosa familiar (PAF) es responsable de menos de 1 por ciento de todos los cánceres colorrectales pero resulta ser el mejor modelo de prevención debido a que la detección precoz de la enfermedad y su tratamiento (colectomía o coloproctectomía) abortan la secuencia adenoma carcinoma. El riesgo de cáncer colorrectal (CCR) en este grupo es del 100 por ciento siendo la edad media de presentación temprana (30 años) por lo cual la pesquisa mediante colonoscopías comienza a los 10-12 años continuándose en forma anual o bienal. En este tipo de enfermedades la confección de un árbol familiar exacto es indispensable para evaluar el grado de afectación familiar. Todos los familiares de primer grado de un paciente afectado deberán estudiarse independientemente de su edad. Se presentan dos casos de familias con PAF clásica diagnosticada en individuos jóvenes (< 40 años) en los cuales sus madres mayores de 60 oligosintomáticas eran las portadoras del gen defectuoso, los cuales han resultado en el refuerzo de las conductas indicadas.

Familial Adenomatous Polyposis (FAP) is responsible of less than 1 per cent of all colorectal cancers. However, it represents the best setting to apply prevention strategies such as early detection of the disease and subsequent application of surgical treatment (colectomy or proctocolectomy). As a consequence, the initiation of the adenoma-carcinoma sequence is stopped. The risk of colorectal cancer (CRC) occurence in this group is 100 per cent, being the mean age of presentation 30. Surveillance with colonoscopies starts at 10-12. Since then, a colonoscopy must be done every 1-2 years. In FAP, building a family tree is important to evaluate the extention and familiar involvement of the disease. Every first degree relative of a given patient should undergo a colonoscopy regerdless of their age. We present two cases of families with clasic FAP diagnosed in young individuals (< 40 years), in which their oligosymptomatic mothers (>60 years) were carriers of the malfunctioning gene. Surveillance and diagnostic strategies were triggered by these cases.

Poliposis adenomatosa familiar: presentación de dos casos en gemelos masculinos idénticos / Familial adenomatous polyposis: case report of male twins

BACKGROUND: One hundred percent of the cases of familial adenomatous polyposis (FAP) will develop carcinoma; therefore, the necessity of diagnosis at an early age with immediate therapy is essential. In the presence of identical twins, it is mandatory for both to undergo comprehensive colonic examination as early as possible. The study took place at a third-level general hospital with the objective of explaining in detail the importance of early diagnosis of FAP. CLINICAL CASES: We report on FAP in identical male twins who were operated on at different times with different outcomes and prognosis. The first twin was treated 20 years previously at an early age and underwent subtotal colectomy with ileoproctostomy. This patient is currently asymptomatic with no evidence of malignancy. The second twin was operated on at the age of 33 years and was already a carrier of a well differentiated rectal adenocarcinoma. CONCLUSIONS: Opportune therapy carried out on the first twin has resulted in a disease-free status, in contrast with the delay in treatment of the second twin who developed carcinoma.

Polipose adenomatosa familiar atenuada / Attenuated familial adenomatous polyposis

A Polipose Adenomatosa Familiar Atenuada(PAFA) é uma síndrome autossômica dominante, de diagnóstico tardio, comparando-se à forma clássica da polipose adenomatosa familiar. Dentre as características da síndrome estão: a)presença de menos de 100 pólipos colorretais; b) curso brando da doença, com idade tardia do diagnóstico e do aparecimento de câncer; c)prevalência maior dos pólipos à direita do cólon; d) reto poupado de lesões, na maioria dos casos. Analisar as características clínicas, tratamento e seguimento de 13 pacientes com diagnóstico de PAFA. Dos pacientes estudados, a média de idade ao diagnóstico foi 55 anos. Cinco pacientes apresentavam história familiar de polipose e/ou neoplasia. Nove (69 por cento) pacientes já tinham câncer no momento do diagnóstico. A maioria dos pacientes possuía pólipos localizados no cólon direito (31 por cento). Do total, 06 pacientes foram submetidos à ressecção cirúrgica, com proctocolectomia ou colectomia. A média de seguimento dos pacientes foi de 26 meses. O controle foi realizado através de colonoscopias e retossigmoidoscopias, de acordo com o tratamento realizado. O diagnóstico de PAFA foi feito em idade tardia em relação à forma clássica da doença, com a maioria dos pólipos localizados no cólon direito. O controle endoscópico dos pacientes deve ser realizado com rigor. A colectomia com anastomose do íleo-reto é uma boa opção cirúrgica no tratamento dos pacientes, com baixa recidiva de pólipos no reto.

Attenuated Familial Adenomatous Polyposis (AFAP) is a heritable autosomally dominant syndrome, with later diagnosis than the classical condition of Familial Adenomatous Polyposis. Amid its main features there are : a) the presence of less than 100 polyps; b) the mild course of the disease and its later diagnosis and development of colon cancer; c)the polyps are more frequent in the right colon; d)the rectum may be relatively or even totally spared. To analyze the clinical manifestations, treatment and follow-up of 13 patients with AFAP. The mean age was 55 years, five patients had positive family history of polyposis and/or colon cancer and nine (69 percent) patients had already developed colonic cancer at the time of the diagnosis. Most of the patients had polyps located in the right colon. Six out of 13 patients patients had undergone surgical resection, either proctocolectomy or colectomy. The average follow-up time was 26 months. Periodically colonoscopy or retosigmoidoscopy were employed for follow-up evaluation, according to the previous surgical procedure. The diagnosis of AFAP was made later than the one of the classic form of the disease and most of the polyps were located in the right colon. Frequent follow-up with endoscopic examination as a follow-up is mandatory. Colectomy with ileo-rectal anastomosis is a very good option in the surgical management of these patients with low recurrence rate of rectal polyps.

Isolated adenomatous polyposis of the appendix. Report of two cases

Adenomas are rarely diagnosed in the appendix and may be isolated or may coexist with other neoplasms in the gastrointestinal tract. This emphasizes the need for postoperative colonoscopy when a polyp of the appendix is found. Moreover, the polyps are considered to be premalignant lesions. Report two new cases of adenomas of the appendix. We report the cases of 23-year-old and 22-year-old men, for whom appendicectomy performed for acute appendicitis. In both cases, histologic studies revealed adenomas in moderate dysplasia colonoscopy did not reveal any polyps

Câncer Colorretal: rastreamento e vigilância / Colorectal cancer screening and surveillance

O câncer colorretal é a segunda causa de morte por cânceres nos EUA e a quarta no Brasil, sendo sua incidência e mortalidade semelhantes para homens e mulheres. Apesar de o rastreamento reduzir a mortalidade a partir da detecção e remoção do câncer precoce e das lesões precursoras (pólipos adenomatosos), as taxas de rastreamento têm-se mantido extremamente baixas. Os decepcionantes índices têm sido atribuídos às resistências dos médicos, pacientes e sistema de saúde. A recomendação médica de rastreamento é fundamental, bem como o reconhecimento da necessidade de implementação pelo sistema de saúde. A decisão sobre qual método utilizar é controversa. A colonoscopia tem recebido atenção por ser o teste de maior acurácia, sendo idealmente indicada para indivíduos de alto risco (história familiar ou pregressa de câncer colorretal, adenoma de alto risco ou retocolite ulcerativa de longa duração). A escolha do exame para aqueles de risco moderado requer a consideração de diversos fatores, incluindo acurácia, custo e preferência do paciente. Os autores apresentam uma revisão narrativa da literatura sobre as atuais recomendações para o rastreamento e vigilância do câncer colorretal, incluindo os métodos que poderão estar disponíveis nos próximos anos, como a colonoscopia virtual e a pesquisa de DNA fecal

Cáncer colorrectal no polipóideo (Síndrome de Lynch) / Non poliposys colorectal cancer (Lynch syndrome)

Cancer of the large intestine (colon and rectum) is the most frequent neoplasm of the GL tract. The clinical importance of this disease is based both on its frequent occurrence and the fact that its early detection may lead to a substantial imporvement in autcome. The step wise progression from normal mucosa to cancer is better understood in the colon than in any other GI organ. Adenomas which begin in flat mucosa, are the earliest histologically identifiable neoplastic lesions. patients with adenomatous polyps are at greater risk for subsequent development of cancer...The early detection of this complaint, including genetic tests and diagnostic features, treatment and postoperative follow-ups, are described in the article.

Poliposis adenomatosa familiar: presentación de un caso clínico: Hospital Universitario de Caracas / Famylial adenomatous polyposis: presentation of a case clinical: Hospital Universitario of Caracas

Se presenta caso de un paciente masculino de 20 años de edad, que ingrersó al Hospital Universitario de Caracas con diarrea crónica de 3 años de evolución, en quien la colonoscopia evidenció colon tapizado de cientos de pólipos de superficie lisa, diferentes tamaños. Se realizó endoscopia digestiva superior encontrando pólipos a nivel de segunda porción de duodeno no en la papila y en la enteroscopia, pólipos en duodeno y yeyuno. Tenía antecedente de madre con diagnóstico de adenomatosis familiar y Cáncer de Colon diagnosticado en el año 2002. La póliposis adenomatosa familiar es un desórden hereditario autosómico dominante caracterizado por la presencia de cientos y miles de pólipos en el colon. Todos los pacientes desarrollan cáncer de colon si no son tratados. Más del 90 por ciento de los casos presentan pólipos gastro-duodenales y el carcinoma de papila es una de las manifestaciones malignas más común en este síndrome