Se justifica el seguimiento después de una colectomía en pacientes con poliposis adenomatosa familiar / The follow up after colectomy in patients with familial adenomatous polyposis is justified

phenotypic expression is the presence of múltiple colorectal adenomatous polyps (more than 100), with high probability developing colorrectal cancer (CRC) before the fifth decade of life. Prophylactic surgery (total colectomy or restorative proctocolectomy) reduces the risk of developing CRC. However, the risk of developing tumors in other organs remains present. Objetive: Analyze the frequency and type of tumors associated with classic familial adenomatous polyposis syndrome (FAPc) patients undergoing prophylactic colectomy. Material and Methods: Cohort study. From the registry of hereditary colorrectal cancer (CRC) at our institution, we identified patients with FAPc who underwent total colectomy with ileorrectal anastomosis (TC-IRA) or restorative proctocolectomy (RTPC), from 1999 to 2014. In the follow-up we analyzed related tumors and mortality. Results: 27 patients, of whom 18 (66.7%) underwent TC-IRA and 9 (33.3%) underwent RTPC. At the time of surgery, 4 patients had CRC (15%) and 5 had extracolonic tumors (osteomas). In a mean follow-up of 49, 4 months (i: 2 y 178) the following lesions were diagnosed: digestive tract adenomas in 17 (63%) patients, of these 2 required a proctectomy and 3 resection of duodenal adenomas. Eight patients developed desmoid tumors (30%), and 3 of them underwent surgery. One patient had an extradigestive tumor (thyroid cancer) and only 8/27 (29.6%) did not develop other tumors. One patient died due to progression of his CCR. Discussion: In this series it is confirmed that most patients will develop neoplasms FAPc after colectomy. conclusion: The removal of the colon and/or rectum is able to prevent the development of CRC. However, two thirds of the patients develop other tumors in which systematic surveillance allowed early detection and treatment.

Objetivo: Analizar la frecuencia y tipo de tumores asociados en pacientes con poliposis adenomatosa familiar clásica (PAFc) sometidos a una colectomía profiláctica. Materiales y Métodos: Estudio de cohorte. Desde el registro de cáncer colorrectal (CCR) hereditario, se identificaron las familias con PAFc, y de estas a los pacientes que se les practicó una colectomía total con anastomosis íleorrectal (CT-AIR) o proctocolec-tomía restauradora (PCTR), desde 1999 al 2014. En el seguimiento se analizaron los tumores asociados y su mortalidad. Resultados: Se identificaron 27 pacientes, de los cuales 18 (66,7%) fueron sometidos a CT-AIR y 9 (33,3%) a PCTR. Al momento de la cirugía, 4 pacientes presentaban CCR (15%) y 5 tenían tumores extracolónicos (osteomas). En un seguimiento promedio de 49,4 meses (i: 2 y 178) se diagnosticaron: adenomas del tracto digestivo en 17 (63%) pacientes, de éstos 2 requirieron una proctectomía y 3 resecciones de adenomas duodenales. Ocho pacientes desarrollaron tumores desmoides (30%), y 3 de ellos fueron sometidos a una cirugía. Un paciente presentó un tumor extradigestivo (cáncer de tiroides) y sólo 8/27 (29,6%) pacientes no desarrollaron otros tumores. Un paciente falleció por progresión de su CCR. Discusión: En esta serie se confirma que la mayoría de los pacientes con PAFc seguirán desarrollando neoplasias después de su colectomía. conclusiones: La extirpación del colon y/o recto permitió evitar el desarrollo de CCR. Sin embargo, dos tercios de los pacientes presentaron otros tumores en quienes su seguimiento permitió una detección y tratamiento temprano.

Resultados oncológicos a largo plazo de pacientes sometidos a resección laparoscópica por cáncer de recto / Long term oncological outcomes of patients undergoing laparoscopic resection for rectal cancer

Introducción: En la actualidad hay consenso en la seguridad oncológica en la cirugía laparoscópica para el tratamiento del cáncer de colon, sin embargo, en el cáncer de recto (CR) los resultados a largo plazo, continúan siendo objeto de estudio. El objetivo de este trabajo es analizar la sobrevida a largo plazo en pacientes operados por adenocarcinoma de recto por vía laparoscópica. Material y Métodos: Desde la base de datos prospectiva de cirugía colorrectal laparoscópica se seleccionaron los pacientes operados por CR en el periodo entre octubre 2000 y diciembre 2009. Se excluyó a los pacientes con cáncer colorrectal hereditario. Se analizaron los datos de seguimiento los cuales son obtenidos mediante registros clínicos y datos del registro civil. Se realizó un análisis de sobrevida con el método de Kaplan-Meier. Resultados: En el periodo mencionado, 60 pacientes fueron operados por CR, 2 (3,4%) pacientes fallecieron en el postoperatorio temprano y fueron excluidos en el análisis de sobrevida, por tanto, 58 pacientes fueron incluidos en el seguimiento. El 41% eran sexo femenino y la edad promedio fue de 60 ± 11,6 años. Los tumores se encontraban localizados en el recto superior, medio e inferior en un 28%, 28% y 44% respectivamente. Las cirugías realizadas fueron resección abdominoperineal, resección anterior ultrabaja interesfintérica, resección anterior ultrabaja y resección anterior baja en un 8%, 28%, 5% y 59% de los pacientes, respectivamente. El 50% de los pacientes recibieron neoadyuvancia. Tras la estadificación postoperatoria 4% fueron clasificados estadio 0, 38% estadio I, 17% estadio II, 28% estadio III y 13% estadio IV. El recuento de linfonodos de la pieza operatoria fue de 12,3 en promedio. A un seguimiento de 42,6 meses (r: 17 a 103 meses) la sobrevida global estimada a 5 años es de 85%. Según estadios la sobrevida estimada a 5 años fue de 100% para el estadio 0 y I, 88% para el estadio II, 74% para el estadio III... (TRUNCADO)

Background: Currently there is a consensus in oncological safety for laparoscopic surgery for colon cancer; however, in rectal cancer long term outcomes are still a subject of debate. The aim is to analyze long term survival in patients who underwent laparoscopic surgery for rectal cancer. Material and Methods: From the prospective database of laparoscopic colorectal surgery, we selected patients operated on between October 2000 and December 2009. Patients with hereditary colorectal cancer were excluded. Follow-up data was obtained by medical records and national vital records. Survival was analyzed using the Kaplan-Meier method. Results: In this period, 60 patients were operated on for rectal cancer. Two died in the early postoperative period and were excluded from the analysis; therefore, 58 patients were included in follow-up. Forty-one percent were female and mean age was 60±11.6 years old. Tumors were localized in the upper, mid and lower rectum in 28%, 28% and 44%, respectively. Surgeries performed were abdominoperineal resection, ultra-low intersphincteric resection, ultralow anterior resection and low anterior resection in 8%, 28%, 5% and 59% of patients, respectively. Fifty percent received neoadjuvant treatment. After postoperative staging 4% were classified as stage 0,17% as stage I, 28% as stage II, 28% as stage III, and 13% as stage IV. At a mean 42.6 month follow-up (r: 17-103 months) estimated overall 5-year survival was 85%. When analyzed according to stage, estimated overall 5-year survival was 100% for stages 0 and I, 88% for stage II, 74% for stage III, and 57% for stage IV. Conclusion: Long term survival in patients undergoing laparoscopic surgery for rectal cancer is satisfactory and is within the values reported by international centers.

Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica / Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry

Background: Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application of clinical criteria. To increase the rate of identification of mutations, the use of molecular studies as Microsatellite Instability (MSI) and Im-munohistochemistry (IHC) in the tumor has been proposed. Aim: To demonstrate the usefulness of MSI and IHC in the detection of mutations in patients with LS. Material and Methods: From our Familial Colorectal Cancer Registry, families suspected of LS were selected according to Amsterdam or Bethesda clinical criteria. Screening of germline mutations of MLH1, MSH2 and MSH6 genes was performed. In addition, analysis of MSI and IHC were performed in colorectal tumors. Results: A total of 35 families were studied (19 met Amsterdam and 16 met Bethesda criteria). Twenty one families harbored a germline alteration in MLH1, MSH2 or MSH6 (18 Amsterdam and 3 Bethesda). In these families, eighteen different alterations were found, 15 of which were mutations and 3 corresponded to variants of uncertain pathogenicity. On the other hand, 80% of the tumors showed positive microsatellite instability (27 MSI-high and 1 MSI-low), and immunohistochemical testing showed that 77% of tumors had the loss of a protein. Correlation between results of tumor molecular studies and the finding of germline nucleotide change showed that IHC and MSI predicted mutations in 81 and 100% of patients, respectively. Conclusions: MSI and IHC can efficiently select patients with a high probability of carrying a mutation in DNA repair genes.

Caracterización clínica y genética de las poliposis intestinales hereditarias / Clinics and genetic characteristics in hereditary colon polyposis

Se denomina pólipo intestinal a una lesión visible elevada o tumor que se proyecta desde la superficie epitelial al lumen visceral. En relación al número, presencia de antecedentes familiares, manifestaciones extraintestinales y estudios genéticos es que se constituyen diversas poliposis intestinales. Si bien, las poliposis intestinales se manifiestan en general en la edad adulta, existen manifestaciones que pueden hacer sospechar la presencia de un síndrome poliposico hereditario en la infancia. Además en una proporción considerable estas poliposis presentan manifestaciones extraintestinales, tanto benignas como tumores en otros órganos. Es por esto, que una alta tasa de sospecha, en particular frente a pacientes con antecedentes familiares, puede conducir a un diagnóstico y tratamiento oportuno, además de considerar a la familia como potenciales pacientes e ingresar al grupo familiar a un registro de tumores hereditarios. Diversas técnicas de biología molecular han permitido la identificación de las mutaciones que son heredadas en estas enfermedades, permitiendo realizar conductas preventivas al saber el riesgo de cada persona en una familia afectada. El objetivo de esta revisión, es caracterizar las distintas poliposis intestinales, en cuanto a sus manifestaciones clínicas, clasificaciones, estudio genético y enfrentamiento multidisciplinario.

Polyps are solid or tumoral elevated lesions that arise from the intestinal epithelium so that they become visible in the intestinal epithelium so that they become visible in the intestinal lumen. Information regarding familial history, number, extraintestinal manifestations and genetic studies of polyps, assemble different types of intestinal polyposis. Generally, clinical manifestations occur in adult patients, although in children there are several signs that should make the physician suspect a hereditary polyposis syndrome. In addition it is important to know extraintestinal manifestations which are mostly benign but tumors may be present in other organs too. Bearing in mind that high clínical suspicion of hereditary polyposis syndrome especially if familial history is present, provides early diagnosis and appropriate treatment for the patient and eventually for the family members that could be affected, entering that family in a registry of hereditary tumors. Molecular biology has created different techniques to identify the presence of hereditary mutations that are specific for intestinal polyposis. Acknowledgment of these mutations establishes risks groups allowing adequate prevention strategies. The objective of this revision is to characterize and different types of intestinal polyposis, according to clinical manifestations, classification, genetic study and multidisciplinary approach.

Programa de detección de neoplasias colorrectales en población mayor de 50 años / A screening program for colorectal cancer in Chilean subjects aged fifty years or more

Background: Mortality from colorectal cancer (CCR) in Chile has nearly doubled over the past 15 years. International studies have shown that CCR screening programs based on fecal occult blood test (FOBT) reduce CCR mortality. Aim: To analyze the results from a CCR screening model in people over 50 years. Material and Methods: Between 2007 and 2009, a prospective multicenter study was performed in seven major Chilean cities. FOBT using an immunological method, was measured in asymptomatic subjects aged 50 years or more, without risk factors. In patients with a positive FOBT, with symptoms or with family risk factors, a colonoscopy was indicated. Results: A total of 6348 subjects were assessed, FOBT was performed in 4938 of them, with a compliance of 77%. The result was positive in 9.6%. A total of 2359 colonoscopies were ordered, with an overall compliance of 50.1%. Of the 1184 colonoscopies performed, adenomas and high risk adenomas were found in 304 (26%) and 75 (6%) patients, respectively. Thirteen patients were diagnosed with stage I and IICCR. Three of these lesions were excised endoscopically and 10 surgically. The detection rate of polyps, high risk adenomas and cancer was 75, 12 and 2 per 1000 screened individuals, respectively. Conclusions: This program allowed the early detection of an important number of high risk colon lesions, and all patients with CCR were diagnosed at early stages.

Eco-epidemiologia dos arbovírus na área de influência da rodovia Cuiabá-Santarém (BR 163), Estado do Pará, Brasil / Arbovirus eco-epidemiology in the area affected by the Cuiabá-Santarém Highway (BR-163), Pará State, Brazil

O presente estudo descreve os aspectos eco-epidemiológicos sobre arbovírus nos Municípios de Novo Progresso e Trairão, Estado do Pará, Brasil, na área de influência da BR 163. Anticorpos IH foram detectados para diferentes arbovírus, com reações monotípicas para os VMAY e VORO, dois importantes arbovírus associados a epidemias na Amazônia. Anticorpos IgM para o VORO e VMAY foram detectados em soros humanos, sugerindo infecção recente por esses arbovírus. Duas cepas do VDEN-3 foram isoladas de pacientes febris residentes em Novo Progresso e identificadas como genótipo III. Em termos gerais, os dados obtidos sugerem uma área propícia para a circulação e manutenção de arbovírus e uma população pouco imunizada. Portanto, é importante um monitoramento dinâmico das populações locais e de imigrantes e de animais silvestres quanto à presença de anticorpos e isolamentos de arbovírus, o que permitirá um efetivo controle das infecções por esses agentes virais em residentes da área da rodovia dentro do território paraense.

The current study describes the eco-epidemiological aspects of arbovirus diseases in the municipalities (counties) of Novo Progresso and Trairão, Para State, Brazil, in the area affected by highway BR-163. Hemagglutination inhibition (HI) antibodies to different arboviruses were detected, with monotypic reactions to MAYV and OROV, two important arboviruses associated with epidemics in the Amazon. IgM antibodies to OROV and MAYV were found in human sera, suggesting recent infections by these viruses. Two DENV-3 strains were isolated from febrile patients in Novo Progresso and identified as genotype III strains. In general, the data suggest that the area displays ideal conditions for maintenance and circulation of arboviruses, plus a population with low immunization levels. Dynamic surveillance of local immigrants and wild animals is thus important, focusing on antibody prevalence and isolation of arboviruses, thereby allowing effective control of infections by these viral agents in the resident population along highway BR-163 in Pará State.

Colgajo tram bilateral más injerto de complejo areola pezón: a propósito de un caso / Tram bilateral flap and nipple areola complex graft: a purpose of a case

Las opciones terapéuticas y reconstructivas disponibles hoy para las mujeres con cáncer mamario son numerosas. De los métodos disponibles para la reconstrucción mamaria autóloga el colgajo de recto abdominal ha sido el más popular, se ha calificado como uno de los más ingeniosos en el campo de la cirugía plástica. Es un colgajo que incluye piel, tejido graso y músculo recto-abdominal, este conjunto es llevado con su irrigación: la arteria epigástrica superior hasta el defecto de la mastectomía, en tórax. El propósito de la reconstrucción de la areola y pezón es hacer a la mama reconstruida lo más parecida a una mama natural. Se presenta el caso de una paciente que se le realiza mastectomía total más linfadenectomía axilar bilateral de niveles I y II colocación de catéter venoso implantable, colgajo Tram bilateral pediculado con arterias epigástricas superiores, injerto de complejo areola pezón, previa biopsia per operatoria del bloque galactóforo.

The therapeutic and reconstructive options currently available for women with breast cancer are numerous. Of the existing methods for autologous breast reconstruction the abdominis rectus flap has been the most popular and has been considered one of the most ingenious in the field of plastic surgery. It is a flap that includes skin, subcutaneous fat and the rectus abdominis muscle; these tissues are conducteden-bloc with their irrigation, the superior epigastric artery, to the mastectomy defect in the thorax. The purpose of the areola and nipple reconstruction is to make the reconstructed breast similar to the natural breast. We present the case of a patient that underwent bilateral total mastectomy with bilateral axillaries lymphadenectomy of the levels I and II, placement of a central venous port access catheter, bilateral pedicle TRAM flap with superior epigastric arteries and areola nipple complex graft with previous per operative biopsy of the nipple ground.