Caracterización clínica y epidemiológica de los pacientes con cáncer de colon / Clinical and epidemiological characterization of patients with colon cancer

INTRODUCCIÓN. El cáncer de colon es una neoplasia del tubo digestivo considerada una de las más frecuentes en ambos sexos y que predomina en adultos mayores. OBJETIVO. Describir las características clínicas y epidemiológicas de los pacientes con cáncer de colon. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo, retrospectivo. Población de 1 601 y muestra de 210 datos de Historias Clínicas Electrónicas de pacientes diagnosticados con cáncer de colon, atendidos por la Unidad de Oncología del Hospital de Especialidades Carlos Andrade Marín de la ciudad de Quito en el periodo enero de 2016 a diciembre de 2019. Criterios de inclusión: diagnóstico confirmado de Cáncer de Colon, edad igual o mayor a 18 años, y disponer de todos los datos clínicos requeridos en el estudio. Se utilizó el método de muestreo probabilístico con lo que se estimó una proporción para el estudio con un intervalo de confianza del 95%, un margen de error del 5% y una frecuencia esperada del 3%, de donde se obtuvo una muestra ajustada al 10% de pérdidas. El procesamiento de datos se realizó en los programas Microsoft Excel versión 16 y el Statistical Package for Social Sciences versión 24. RESULTADOS. La mayor presentación fue en adultos mayores de 50 años, con una relación 1:1 en cuanto a sexo, y en la procedencia, se ubicó mayoritariamente en la población de la región Sierra; las personas con una actividad económica de tipo profesional fueron las más afectadas; en lo que se refiere a los antecedentes se encontró mayor relación en los personales y dentro de estos los pólipos; no hubo relación con los antecedentes quirúrgicos ni familiares. El síntoma de debut más prevalente fue el dolor abdominal; la mayoría fueron sometidos a colonoscopia; predominó la lateralidad derecha y el tipo histológico principalmente identificado fue el adenocarcinoma. CONCLUSIÓN. No se observó relación estadísticamente significante entre estadíos, evolución y tratamientos instaurados, lo que pudo estar influenciado por el muestreo al azar; y que el 53,30% de los pacientes aún se encuentra en controles.

INTRODUCTION. Colon cancer is a neoplasm of the digestive tract considered one of the most frequent in both sexes and predominantly in older adults. OBJECTIVE. To describe the clinical and epidemiological characteristics of patients with colon cancer. MATERIALS AND METHODS. Observational, descriptive, retrospective study. Population of 1 601 and sample of 210 data from Electronic Medical Records of patients diagnosed with colon cancer, attended by the Oncology Unit of the Hospital de Especialidades Carlos Andrade Marín of the city of Quito in the period January 2016 to December 2019. Inclusion criteria: confirmed diagnosis of Colon Cancer, age equal to or older than 18 years, and having all the clinical data required in the study. The probability sampling method was used with which a proportion was estimated for the study with a confidence interval of 95%, a margin of error of 5% and an expected frequency of 3%, from which a 10% loss adjusted sample was obtained. Data processing was performed in Microsoft Excel version 16 and Statistical Package for Social Sciences version 24. The greatest presentation was in adults over 50 years of age, with a 1:1 ratio in terms of sex, and in terms of origin, it was mainly located in the population of the Sierra region; people with a professional economic activity were the most affected; in terms of history, a greater relationship was found in personal history and within these, polyps; there was no relationship with surgical or family history. The most prevalent debut symptom was abdominal pain; the majority underwent colonoscopy; right laterality predominated and the histological type mainly identified was adestatistically significant relationship was observed between stages, evolution and treatment, which could be influenced by random sampling; and that 53,30% of the patients are still in controls.

Proctocolectomía total radical laparoscópica por poliposis familiar adenomatosa colorrectal asociada a cáncer de colon izquierdo / Laparoscopic radical total proctocolectomy by colorrectal adenomatous family polyposis associated with left colon cancer

Resumen Objetivo: Presentar el caso de una paciente mujer adulta, joven, con poliposis múltiple, asociado a cáncer colorrectal, evaluando su manejo quirúrgico oncológico. Materiales y Método: Datos e imágenes recopilados de la historia clínica del Hospital de Alta Complejidad Virgen de la Puerta (HACVP) EsSalud - La Libertad. Resultado: Mujer de 33 años que debuta con dolor abdominal en hemiabdomen izquierdo, más deposiciones con sangre. El hallazgo colonoscópico encuentra múltiples pólipos elevados, planos y sésiles en todo el colon, recto y ano compatible con displasias de alto y bajo grado; a nivel de colon izquierdo se halla lesión exofítica, estenosante cuyo resultado fue adenocarcinoma infiltrante moderadamente diferenciado. Por el gran riesgo de malignidad en todo el intestino grueso, incluyendo canal anal, se le realiza proctocolectomía total laparoscópica más ileostomía terminal. Discusión: La poliposis adenomatosa familiar (PAF) es un síndrome cuyo abordaje quirúrgico va desde una colectomía total con anastomosis ileorrectal, proctocolectomía con ileostomía terminal y proctocolectomía total con Pouch y anastomosis ileoanal. Conclusión: Individualizar el caso, sobre la mejor opción quirúrgica a adoptar para un adecuado manejo oncológico.

Aim: To present the case of a young adult female patient with multiple polyposis associated with colorectal cancer, evaluating her surgical oncological management. Materials and Method: Data and images collected from the clinical history of the Hospital de Alta Complejidad "Virgen de la Puerta" (HACVP) EsSalud - La Libertad. Result: 33-year-old woman presenting with abdominal pain in the left hemiabdomen plus bloody stools. At colonoscopy multiple raised, flat and sessile polyps throughout the colon, rectum, and anus compatible with high-and low-grade dysplasias; an exophytic, stenosing lesion was found in the left colon, the result of which was moderately differentiated infiltrating adenocarcinoma. Due to the great risk of malignancy in the entire large intestine including the anal canal, a total laparoscopic proctocolectomy plus terminal ileostomy was performed. Discussion: Familial adenomatous polyposis (FAP) is a syndrome whose surgical approach ranges from a total colectomy with ileorectal anastomosis, proctocolectomy with terminal ileostomy and total proctocolectomy with Pouch and ileoanal anastomosis. Conclusión: Individualize the case, regarding the best surgical option to adopt for an adequate oncological management.

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)

Surgical results and quality of life of patients submitted to restorative proctocolectomy and ileal pouch-anal anastomosis / Resultados cirúrgicos e qualidade de vida de pacientes submetidos à proctocolectomia total e reservatório ileoanal

ABSTRACT Purpose: restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the surgical procedure of choice in some cases of familial adenomatous polyposis (FAP) and ulcerative colitis (UC). IPAA allows complete removal of the diseased colon and rectum, however, it is associated with substantial morbidity and potential consequences to patients' quality of life (QoL). Aims: to evaluate the surgical results, functional outcomes and QoL after IPAA; and to examine the impact of surgical complications upon QoL. Methods: we reviewed the records of 55 patients after IPAA, with emphasis on surgical outcomes. Forty patients answered the questionnaires. The Cleveland Global Quality of Life (CGQL), Inflammatory Bowel Disease Questionnaire (IBDQ), and Short Form 36 Health Survey Questionnaire (SF36). Results: the average age was 42.1±14.1 years. 63.6% of the patients were male, and 69.1% had FAP. Operative mortality was 1.8% and overall morbidity was 76.4%. Anastomotic leakage was the most frequent early complication (34.5%). Pouchitis (10.8%) and small bowel obstruction (9.1%) were the most common late complications. Patients with UC had the most severe complications (p=0.014). Pelvic complications did not have a negative effect on functional outcomes or QoL scores. Female patients had decreased pouch evacuation frequency, fewer nocturnal bowel movements, decreased bowel symptom impact on QoL (p=0.012), and better CGQL (p=0.04). Patients with better education had better QoL scores, and patients who had their pouches for more than five years scored lower. Conclusion: the high morbidity has no impact on function or QoL. Bowel function is generally acceptable. QoL is good and affected by sex, education and time interval since IPAA.

RESUMO Objetivo: a Proctocolectomia com reservatório ileoanal (PCT-RIA) é método de escolha em alguns casos de Polipose Adenomatosa Familiar (PAF) e Retocolite Ulcerativa (RCU). Embora tenha potencial curativo, apresenta morbidade considerável e pode afetar a qualidade de vida (QV) dos pacientes. Objetivos: avaliar resultados cirúrgicos e impacto das complicações pélvicas na função intestinal e QV. Métodos: foram avaliados retrospectivamente 55 pacientes submetidos a PCT-RIA, de janeiro de 2003 até abril de 2017, com ênfase na técnica operatória e morbidade. Quarenta pacientes responderam aos questionários Cleveland Global Quality of Life (CGQL), Inflammatory Bowel Disease Questionnaire (IBDQ) e Short Form 36 Health Survey Questionnaire (SF36). Resultados: A média de idade foi 42,1±14,1 anos, sendo 63,6% do sexo masculino e 69,1% com diagnóstico de PAF. A mortalidade cirúrgica foi 1,8% e morbidade 76,4%. Fístula anastomótica foi a complicação precoce mais frequente (34,5%) e, as tardias foram bolsite (10,8%) e obstrução intestinal (9,1%). As complicações precoces mais graves foram mais frequentes em pacientes com RCU (p=0,014). Não houve impacto das complicações na função intestinal nem na QV. As mulheres apresentaram menor frequência evacuatória e noturna, menor interferência dos sintomas intestinais na QV (p=0,012) e CGQL mais elevado (p=0,04). Melhor QV foi referida pelos pacientes com maior escolaridade e, foi observada piora em pacientes com mais de cinco anos de confecção do RIA. Conclusões: não se evidenciou impacto das complicações na função intestinal nem na QV. A função intestinal é satisfatória e a QV é boa na maioria dos pacientes, sendo influenciada pelo sexo, escolaridade e tempo de confecção do RIA.

The fluctuation of APC gene in WNT signaling with adenine deletion of adenomatous polyposis coli, is associated in colorectal cancer / A flutuação do gene da APC na via de sinalização WNT com deleção de adenina na polipose adenomatosa do cólon está associada ao câncer colorretal

ABSTRACT Colorectal cancer is one of the most important malignancies in the classification of gastrointestinal cancers. One of the predisposing factors at molecular level for this cancer is via WNT signaling which is associated with the vast numbers of different genes. Thus, in this study, we aimed to investigate whether Adenomatous Polyposis Coli gene (APC) mutation of rs41115in two locations such as 132.002 and 131.989 acts as a trigger or cause of colorectal cancer. Relatively, 30 blood samples of colorectal cancer patients and 30 normal blood samples as control group after colonoscopy and also confirmation of pathology report at Rohani Hospital in Babol (Iran) were investigated. The primers were designed in order to be included the rs41115 to identify the particular polymorphisms of gene. The polymerase chain reaction (PCR direct sequencing method) was used. Conclusively, deletion of adenine in two specific locations such as 131.989 and 132.002 has been identified, but there was no relationship between rs41115 polymorphisms located in adenomatous polyposis coli gene and colorectal cancer.

RESUMO O câncer colorretal é uma das neoplasias malignas mais importantes na classificação dos cânceres gastrointestinais. Um dos fatores predisponentes no âmbito molecular para esse câncer é através da via de sinalização WNT, que está associada a um grande número de genes diferentes. Portanto, neste estudo, objetivamos investigar se a mutação rs41115 do gene da polipose adenomatosa do cólon (Adenomatous Polyposis Coli - APC) em dois locais como 132.002 e 131.989 atua como gatilho ou como causa do câncer colorretal. Relativamente, 30 amostras de sangue de pacientes com câncer colorretal e 30 amostras de sangue normal (grupo controle) foram analisadas após a colonoscopia, bem como a confirmação do laudo da patologia no Rohani Hospital em Babol (Irã). Os primers foram projetados de modo a incluir o rs41115 para identificar os polimorfismos particulares do gene. A reação em cadeia da polimerase (método de sequenciamento direto por PCR) foi utilizada. Conclusivamente, a deleção de adenina em dois locais específicos, como 131.989 e 132.002, foi identificada, mas não houve relação entre o polimorfismo rs41115 localizado no gene da polipose adenomatosa do cólon e o câncer colorretal.

Is laparoscopic reoperation feasible to treat early complications after laparoscopic colorectal resections? / é possível reoperar por laparoscopia as complicações precoces das ressecções colorretais laparoscópicas?

ABSTRACT Background: Recently, with the performance of minimally invasive procedures for the management of colorectal disorders, it was allowed to extend the indication of laparoscopy in handling various early and late postoperative complications. Aim: To present the experience with laparoscopic reoperations for early complications after laparoscopic colorectal resections. Methods: Patients undergoing laparoscopic colorectal resections with postoperative surgical complications were included and re-treated laparoscopically. Selection for laparoscopic approach were those cases with early diagnosis of complications, hemodynamic stability without significant abdominal distention and without clinical comorbidities that would preclude the procedure. Results: In four years, nine of 290 (3.1%) patients who underwent laparoscopic colorectal resections were re-approached laparoscopically. There were five men. The mean age was 40.67 years. Diagnoses of primary disease included adenocarcinoma (n=3), familial adenomatous polyposis (n=3), ulcerative colitis (n=1), colonic inertia (n=1) and chagasic megacolon (n=1). Initial procedures included four total proctocolectomy with ileal pouch anal anastomosis; three anterior resections; one completion of total colectomy; and one right hemicolectomy. Anastomotic dehiscence was the most common complication that resulted in reoperations (n=6). There was only one case of an unfavorable outcome, with death on the 40th day of the first approach, after consecutive complications. The remaining cases had favorable outcome. Conclusion: In selected cases, laparoscopic access may be a safe and minimally invasive approach for complications of colorectal resection. However, laparoscopic reoperation must be cautiously selected, considering the type of complication, patient's clinical condition and experience of the surgical team.

RESUMO Racional: A realização de procedimentos minimamente invasivos para o manejo de distúrbios colorretais, possibilitou ampliar a indicação de laparoscopia para o manuseio de diversas complicações pós-operatórias precoces e tardias. Objetivo: Apresentar a experiência com reoperações laparoscópicas para complicações precoces após ressecções colorretais laparoscópicas. Métodos: Foram incluídos pacientes submetidos a ressecções colorretais laparoscópicas que apresentaram complicações cirúrgicas no pós-operatório abordadas por via laparoscópica. Os pacientes selecionados foram aqueles com diagnóstico precoce de complicações, estabilidade hemodinâmica sem distensão abdominal significativa e sem comorbidades clínicas que impedissem o procedimento. Resultados: Em quatro anos, nove de 290 (3,1%) pacientes submetidos a ressecções colorretais laparoscópicas foram reabordados pela mesma via de acesso. Havia cinco pacientes do sexo masculino e idade média foi de 40,67 anos. Os diagnósticos de doença primária incluíram adenocarcinoma (n=3), polipose adenomatosa familiar (n=3), colite ulcerativa (n=1), inércia colônica (n=1) e megacólon chagásico (n=1). Os procedimentos iniciais incluíram quatro proctocolectomias totais com anastomose íleo-anal em bolsa ileal; três ressecções anteriores; uma totalização de colectomia total; e uma hemicolectomia direita. A deiscência da anastomose foi a complicação mais comum que resultou em reoperação (n=6). Houve apenas um caso de desfecho desfavorável, com óbito no 40º dia da primeira abordagem após complicações consecutivas. Os demais casos tiveram desfecho favorável . Conclusão: Em casos selecionados, o acesso laparoscópico pode representar alternativa de abordagem segura e minimamente invasiva para complicações da ressecção colorretal. No entanto, a reoperação laparoscópica deve ser cuidadosamente selecionada, considerando o tipo de complicação, a condição clínica do paciente e a experiência da equipe cirúrgica.

Poliposis adenomatosa familiar y prevención del cáncer colorrectal: reporte de un caso / Familial adenomatous polyposis and colorectal cancer prevention: A case report

Resumen La poliposis adenomatosa familiar (PAF) es una enfermedad hereditaria caracterizada por el crecimiento de múltiples adenomas epiteliales de distribución colorrectal, de patrón autosómico dominante causado por el defecto del gen APC. La degeneración de cáncer colorrectal en estos pacientes se considera inevitable en caso de no recibir el manejo terapéutico adecuado. Se presenta el caso de una paciente femenina de 25 años, quien acudió a consulta luego de presentar una modificación del patrón evacuatorio y dolor abdominal, sin antecedentes familiares asociados, por lo que se correlacionó con paraclínicos y se diagnosticó PAF, con la posterior implementación del manejo terapéutico. Se decidió hacer una revisión bibliográfica y actualización del tema resaltando los aspectos clínicos de reconocimiento de la enfermedad, así como las conductas a tomar en consideración para la prevención del cáncer en pacientes con PAF.

Abstract Familial adenomatous polyposis (FAP) is a hereditary disease characterized by the growth of multiple colorectal epithelial adenomas. It is an autosomal dominant disorder caused by an APC gene defect. Degeneration to colorectal cancer is considered unavoidable in these patients if they do not receive adequate therapeutic management. We present the case of a 25-year-old female patient consulted after a change in her evacuation pattern and abdominal pain. She had no relevant family history associated but based on results of paraclinical tests diagnosis of FAP was made for which therapeutic management was implemented. This is a case report with a literature review and update of the topic highlighting clinical issues related to recognition of the disease and issues that should be taken into consideration for the prevention of cancer in patients with FAP.

Large desmoid tumors in familial adenomatous polyposis: a successful outcome

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

Colonic fibromatosis - a case report and review of the literature / Fibromatose colônica - relato de caso e revisão da literatura

ABSTRACT Intra-abdominal desmoids tumours are very rare and usually occur in patients with familiar adenomatous polyposis and previous surgery. They represent fibroepithelial growths with varied biologic behavior and therefore different prognosis. We report a case of a 60-year-old patient with a large right colonic mass who underwent right hemicolectomy. Histology proved morphological and immuno-histochemical features indicating fibromatosis. This desmoid tumour appeared growing from the colonic wall rather than the mesocolon, confirming a true colonic wall fibromatosis, a deep isolated form of intra-abdominal fibromatosis. Surgical resection is the treatment of choice in isolated well confirmed lesions. Multidisciplinary team approach is crucial for treatment and prognosis.

RESUMO Os tumores desmoides intra-abdominais são muito raros e geralmente ocorrem em pacientes com polipose adenomatosa familiar e cirurgia prévia. Eles representam crescimentos fibroepiteliais com comportamento biológico variado e, portanto, prognóstico diferente. Relatamos o caso de um paciente de 60 anos com grande massa colônica à direita, submetido a hemicolectomia direita. A histologia demonstrou características morfológicas e imuno-histoquímicas que indicavam fibromatose. Este tumor desmoide surgiu crescendo a partir da parede do cólon, e não do mesocólon, confirmando uma verdadeira fibromatose da parede do cólon, uma forma isolada profunda de fibromatose intra-abdominal. A ressecção cirúrgica é o tratamento de escolha em lesões isoladas bem confirmadas. A abordagem multidisciplinar é crucial para o tratamento e prognóstico.

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).

Diagnóstico de Cáncer Colorrectal en paciente con sospecha de Poliposis Adenomatosa Familiar / Diagnosis of colonrectal cancer in patient with suspicion of Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is a rare, hereditary disease whose main characteristic is the presence of a large number of polyps in the colon and rectum, which, in the absence of timely treatment, 100% progresses to colorectal cancer. The early diagnosis of this condition is the pillar of the prevention of complications. We present the case of a patient with a low digestive tract syndrome, without previous diagnosis, who after a careful review of clinical and family history, the diagnosis of PAF and later colorectal cancer, is reached. A review of the literature on current advances and recommendations on this disease is made.

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

Síndrome de Gardner: relato de caso e breve revisão da literatura / Gardner Syndrome: case report and brief review of the literature

Modelo do estudo: Relato de caso. Importância do problema e comentários: A Síndrome de Gardner trata-se de uma variante da Polipose Adenomatosa Familiar (PAF), com associação de pólipos gastrointestinais, tumores de partes moles e tumores ósseos. É uma desordem rara e o diagnóstico precoce é crucial para redução da morbimortalidade. O presente estudo relata um caso de Síndrome de Gardner com seus achados clínicos e radiológicos, além de apresentar breve revisão da literatura. (AU)

Type of study: Case report. Relevance and comments: Gardner Syndrome is a variant of Familial Adenomatous Polyposis (FAP), with the association of gastrointestinal polyps, soft tissue tumors and bone tumors. It is a rare disorder and early diagnosis is crucial to reduce its morbimortality. The present report illustrates a case of Gardner Syndrome with its clinical and radiologic features, as well as a brief review of the literature. (AU)

Genetic profile, risk factors and therapeutic approach of desmoid tumors in familial adenomatous polyposis / Perfil genético, fatores de risco e abordagem terapêutica dos tumores desmóides na Polipose Adenomatosa Familiar

ABSTRACT Introduction: Desmoid tumors are the main extraintestinal manifestation of FAP, presenting high morbidity and mortality. It is a neoplasia without metastasis capacity, but with infiltrative growth and with a high rate of recurrence. In familial forms, these tumors are associated with a germinal mutation in the APC gene, with a genotype-phenotype correlation influenced by other risk factors. Materials and methods: A review of articles published since the year 2000 in Portuguese, English or Spanish on desmoid tumors in patients with FAP was carried out. A total of 49 publications were included. Results: The site of the mutation in the APC gene is related to the severity of FAP and to the frequency of desmoid tumor. Mutations located distally to codon 1309 are associated with a more attenuated polyposis, but with higher frequency of desmoid tumors. Clinically, these tumors may or may not be symptomatic, depending on their size and location. In their treatment, priority should be given to medical therapy, especially in intra-abdominal tumors, with surgery being the last option if there are no other complications. Discussion: These tumors are associated with certain risk factors: genetic (mutation site), hormonal (estrogenic environment) and physical (surgical trauma) ones. In young women, a later prophylactic colectomy is suggested. Moreover, the laparoscopic approach to prophylactic surgery seems to be an option that reduces surgical trauma and consequently the appearance of desmoid tumors. Conclusion: The step-up medical approach has been shown to be valid in the treatment of intra-abdominal desmoid tumors, and medical treatment should be the first therapeutic option.

RESUMO Introdução: Os tumores desmóides são a principal manifestação extraintestinal da PAF, apresentando elevada morbimortalidade. É uma neoplasia sem capacidade de metastização, mas com crescimento infiltrativo e com alta taxa de recorrência. Nas formas familiares associa-se a uma mutação germinativa no gene APC, havendo uma correlação genótipo-fenótipo influenciada por outros fatores de risco. Materiais e métodos: Foi efetuada uma revisão de artigos publicados desde o ano 2000, em português, inglês ou espanhol, acerca de tumores desmóides em doentes com PAF. Foram incluídas, no total, 49 publicações. Resultados: O local da mutação no gene APC relaciona-se com a gravidade da PAF e frequência de tumor desmóide. Mutações localizadas distalmente ao codão 1309 associam-se a uma polipose mais atenuada, mas a maior frequência de tumor desmóide. Clinicamente podem ser, ou não, sintomáticos, dependendo do seu tamanho e localização. No seu tratamento deve ser dada prioridade à terapêutica médica, sobretudo nos tumores intra-abdominais, colocando a cirurgia como última opção, caso não hajam outras complicações. Discussão: Estes tumores associam-se a determinados fatores de risco: genéticos (local da mutação), hormonais (ambiente estrogénico) e físicos (trauma cirúrgico). Nas mulheres jovens sugere-se a realização de colectomia profilática mais tardiamente. Além disso, a abordagem laparoscópica para a cirurgia profilática parece ser uma opção que diminui o trauma cirúrgico e consequentemente o aparecimento de tumores desmóides. Conclusão: A abordagem médica em step-up mostrou ser válida no tratamento de tumores desmóides intra-abdominais, devendo o tratamento médico ser a primeira opção terapêutica.

The destruction complex of beta-catenin in colorectal carcinoma and colonic adenoma / O complexo destruidor de betacatenina no carcinoma colorretal e no adenoma cólico

ABSTRACT Objective To evaluate the destruction complex of beta-catenin by the expression of the proteins beta-catetenin, adenomatous polyposis coli, GSK3β, axin and ubiquitin in colorectal carcinoma and colonic adenoma. Methods Tissue samples from 64 patients with colorectal carcinoma and 53 patients with colonic adenoma were analyzed. Tissue microarray blocks and slides were prepared and subjected to immunohistochemistry with polyclonal antibodies in carcinoma, adjacent non-neoplastic mucosa, and adenoma tissues. The immunoreactivity was evaluated by the percentage of positive stained cells and by the intensity assessed through of the stained grade of proteins in the cytoplasm and nucleus of cells. In the statistical analysis, the Spearman correlation coefficient, Student’s t, χ2, Mann-Whitney, and McNemar tests, and univariate logistic regression analysis were used. Results In colorectal carcinoma, the expressions of beta-catenin and adenomatous polyposis coli proteins were significantly higher than in colonic adenomas (p<0.001 and p<0.0001, respectively). The immunoreactivity of GSK3β, axin 1 and ubiquitin proteins was significantly higher (p=0.03, p=0.039 and p=0.03, respectively) in colorectal carcinoma than in the colonic adenoma and adjacent non-neoplastic mucosa. The immunohistochemistry staining of these proteins did not show significant differences with the clinical and pathological characteristics of colorectal cancer and colonic adenoma. Conclusions These results suggest that, in adenomas, the lower expression of the beta-catenin, axin 1 and GSK3β proteins indicated that the destruction complex of beta-catenin was maintained, while in colorectal carcinoma, the increased expression of beta-catenin, GSK3β, axin 1, and ubiquitin proteins indicated that the destruction complex of beta-catenin was disrupted.

RESUMO Objetivo Avaliar o complexo de destruição da betacatenina no carcinoma colorretal e no adenoma do colo pela expressão das proteínas betacatenina, adenomatous polyposis coli, GSK3β, axina e ubiquitina. Métodos Amostras de tecidos de 64 doentes com carcinoma colorretal e de 53 pacientes com adenoma do colo foram analisadas. Blocos de tecidos foram submetidos ao estudo imuno-histoquímico com anticorpos policlonais nos tecidos do carcinoma, mucosa não neoplásica adjacente e adenoma. A imunorreatividade foi avaliada pela porcentagem de positividade de células coradas e pela intensidade do grau de coloração das proteínas no citoplasma e no núcleo das células. Na análise estatística, foram utilizados o coeficiente de correlação de Spearman, os testes t de Student, χ2, Mann-Whitney e de McNemar, e a análise de regressão logística univariada. Resultados No carcinoma colorretal, as expressões da betacatenina e da adenomatous polyposis coli foram significativamente maiores do que em adenomas do colo (p<0,001 e p<0,0001, respectivamente). A imunorreatividade das proteínas GSK3β, axina 1 e ubiquitina foi significativamente maior (p=0,03, p=0,039 e p=0,03, respectivamente) no carcinoma colorretal do que no adenoma e na mucosa não neoplásica adjacente. A coloração imuno-histoquímica dessas proteínas não apresentou diferenças significantes em relação às características clinicopatológicas do câncer colorretal e do adenoma. Conclusões Em adenomas, as menores expressões de betacatenina, axina 1 e GSK3β indicaram que o complexo de destruição da betacatenina estava conservado, enquanto que, no carcinoma colorretal, o aumento das expressões da betacatenina, GSK3β, 1 axina, e ubiquitina indicaram que o complexo de destruição de betacatenina estava alterado.

A novel approach to lower rectal anastomosis: technique innovation and the preliminary report of twenty cases / Uma nova abordagem para a anastomose retal mais baixa: inovação técnica e relatório preliminar de cinte casos

Background and aims: To describe a practical technique innovation (transanal 'Pull-through' approach) as a feasible, safe and effective alternative to the conventional transabdominal stapler low rectal anastomosis in lesions of minimal anatomical distinction from the adjacent intact mucosa. Material and methods: Prospective case-series of patients with low rectal cancers, familial adenomatous polyposis (FAP) and ulcerative colitis undergoing Pull-through transection and very low rectal anastomosis using linear TA-90 noncutting stapler and circular stapler-cutter. Results: In this series, twenty patients (11 men and 9 women) underwent proctectomy by the transanal Pull-through technique. Barring one of the patients that developed a pelvic abscess in the immediate postop follow-up, surgical procedure and the long-term follow-up period was uncomplicated with no critical findings of leakage, stenosis and bleeding. The postop rate of infection and fecal incontinence was not significantly different between genders and different age groups of the study. The mean operative time was calculated 169.9 ± 11.1 minutes. Conclusion: Pull-through transection procedure using the TA-90 non-cutting stapler is a safe, efficient and economically sound technique implicated in low-lying rectal lesions. The transanal 'Pull-through' approach is particularly helpful in situations where the direct visualization of lower rectal mucosa changes the prognosis through determining the marginal extent of intact/involved mucosa (e.g., FAP, villous adenomas, rectal polyps and post-neoadjuvant chemoradiotherapy tumors).

Experiência e objetivos: Descrever uma inovação técnica prática (abordagem transanal pull-through) como uma alternativa viável, segura e eficaz à anastomose transabdominal retal baixa convencional com grampos em lesões com mínima diferenciação anatômica com respeito à mucosa intacta adjacente. Material e métodos: Estudo prospectivo de série de casos de pacientes com cânceres retais baixos, polipose adenomatosa familiar e colite ulcerativa submetidos à transecção pull-through e a uma anastomose retal muito baixa com o uso de um grampeador linear não cortante TA-90 e um grampeador cortante circular. Resultados: Nesta série, 20 pacientes (11 homens, 9 mulheres) foram submetidos a uma proctectomia pela técnica transanal pull-through. À exceção de um dos pacientes, que apresentou um abcesso pélvico no seguimento pós-operatório imediato, não ocorreram complicações com o procedimento cirúrgico e ao longo do prolongado período de seguimento, nem houve achados críticos de vazamento, estenose ou sangramento. O percentual de infecção e incontinência fecal no pós-operatório não foi significativamente diferente entre gêneros e nas diferentes faixas etárias dos pacientes envolvidos no estudo. O tempo cirúrgico médio foi de 169,9 ± 11,1 minutos. Conclusão: O procedimento de transecção pull-through com o uso do grampeador não cortante TA-90 é técnica segura, eficaz e economicamente confiável para uso em lesões retais baixas. A abordagem transanal pull-through tem particular utilidade em situações nas quais a visualização direta de alterações na mucosa retal mais baixa muda o prognóstico, mediante a determinação da extensão marginal da mucosa intacta/envolvida (p. ex., FAP, adenomas vilosos, pólipos retais e tumores pós-quimiorradioterapia neoadjuvante).