AIMTo investigate the association between 16 insertion-deletions (INDEL) polymorphisms, colorectal cancer (CRC) risk and clinical features in an admixed population.METHODSOne hundred and forty patients with CRC and 140 cancer-free subjects were examined. Genomic DNA was extracted from peripheral blood samples. Polymorphisms and genomic ancestry distribution were assayed by Multiplex-PCR reaction, separated by capillary electrophoresis on the ABI 3130 Genetic Analyzer instrument and analyzed on GeneMapper ID v3.2. Clinicopathological data were obtained by consulting the patients’ clinical charts, intra-operative documentation, and pathology scoring.RESULTSLogistic regression analysis showed that polymorphism variations in IL4 gene was associated with increased CRC risk, while TYMS and UCP2 genes were associated with decreased risk. Reference to anatomical localization of tumor Del allele of NFKB1 and CASP8 were associated with more colon related incidents than rectosigmoid. In relation to the INDEL association with tumor node metastasis (TNM) stage risk, the Ins alleles of ACE, HLAG and TP53 (6 bp INDEL) were associated with higher TNM stage. Furthermore, regarding INDEL association with relapse risk, the Ins alleles of ACE, HLAG, and UGT1A1 were associated with early relapse risk, as well as the Del allele of TYMS. Regarding INDEL association with death risk before 10 years, the Ins allele of SGSM3 and UGT1A1 were associated with death risk.CONCLUSIONThe INDEL variations in ACE, UCP2, TYMS, IL4, NFKB1, CASP8, TP53, HLAG, UGT1A1, and SGSM3 were associated with CRC risk and clinical features in an admixed population. These data suggest that this cancer panel might be useful as a complementary tool for better clinical management, and more studies need to be conducted to confirm these findings.

Colorectal cancer is one of the most common malign tumors in men and women all over the world. In spite of prevention advances in the last few years, worldwide incidence remains significant, about one million per year. Objectives Evaluate rectal cancer survival in patients diagnosed and surgically treated at the Cancer Reference Unit at Rio Grande do Norte State, Brazil. Methods Observational retrospective study composed by 135 patients assisted from 2007 to 2014 at Doctor Luiz Antonio Hospital, Natal, Brazil. Data were collected from the patient records revision and survival rates were calculated and analyzed by non-parametric Kaplan–Meier and Wilcoxon tests, respectively. All patients were submitted to surgical treatment, chemotherapy and/or radiotherapy. Results Overall survival was 62% in seven years, while disease-free survival in one, three and five years was 91.7%, 75.5% and 72.1%, respectively. Conclusion Overall survival and disease-free survival remained enhanced until the end of the study, suggesting that the treatment protocols used in the institution have shown to be effective.

The aberrant expression of microRNAs in known to play a crucial role in carcinogenesis. Here, we evaluated the miRNA expression profile of sigmoid colon cancer (SCC) compared to adjacent-to-tumor (ADJ) and sigmoid colon healthy (SCH) tissues obtained from colon biopsy extracted from Brazilian patients. Comparisons were performed between each group separately, considering as significant p-values < 0.05 and |Log2(Fold-Change)| > 2. We found 20 differentially expressed miRNAs (DEmiRNAs) in all comparisons, two of which were shared between SCC vs. ADJ and SCC vs. SCH. We used miRTarBase, and miRTargetLink to identify target-genes of the differentially expressed miRNAs, and DAVID and REACTOME databases for gene enrichment analysis. We also used TCGA and GTEx databases to build miRNA-gene regulatory networks and check for the reproducibility in our results. As findings, in addition to previously known miRNAs associated with colorectal cancer, we identified three potential novel biomarkers. We showed that the three types of colon tissue could be clearly distinguished using a panel composed by the 20 DEmiRNAs. Additionally, we found enriched pathways related to the carcinogenic process in which miRNA could be involved, indicating that adjacent-to-tumor tissues may be already altered and cannot be considered as healthy tissues. Overall, we expect that these findings may help in the search for biomarkers to prevent cancer progression or, at least, allow its early detection, however, more studies are needed to confirm our results.

Introduction: Ulcerative colitis (UC) is a chronic inflammatory disease that affects the rectum and colon, involving periods of exacerbation and remission. A considerable number of patients requires surgery during the course of this disease. Objective: The purpose of this study is to analyze the profile and therapeutic approach of patients with UC. Methods: This is a retrospective study that analyzed medical records of patients diagnosed with UC between 1999 and 2010. We selected 45 patients and analyzed the following variables: age, gender, ethnic group, interval between onset of symptoms and diagnosis, extraintestinal manifestations, extent of colonic involvement, disease complications, pharmacological treatment, indication for surgery, time between diagnosis and indication, surgical procedures, early and late complications and pathological results of surgical specimens. Data were analyzed descriptively and compared with other studies. Results: The clinical profile of the patients was consistent with the literature. Nine patients underwent surgical treatment: seven were submitted to proctocolectomy with anastomosis in the ileo-anal pouch and two were submitted to total colectomy; in addition, eight were submitted to ileostomy. Postoperative complications occurred in 55.5% of patients. Conclusions: The study confirms data from the literature regarding the profile and therapeutic approach of patients with ulcerative colitis. RESUMO: Introdução:A retocolite ulcerativa (RCU) é uma doença inflamatória crônica que acomete reto e cólon, cursando com períodos de exacerbação e remissão. Uma parcela considerável de pacientes necessita de procedimento cirúrgico ao longo do curso dessa enfermidade. Objetivo: Este estudo objetiva analisar perfil e abordagem terapêutica de portadores de RCU. Métodos: Trata-se de estudo retrospectivo realizado por meio da análise de prontuários de pacientes acompanhados com diagnóstico de RCU no período de 1999 a 2010. Foram selecionados 45 pessoas, sendo analisadas as variáveis: idade, sexo, raça, intervalo entre início dos sintomas e diagnóstico, sintomatologia, manifestações extraintestinais, extensão do acometimento colônico, complicações da doença, tratamento medicamentoso, indicação de cirurgia, tempo entre esta e o diagnóstico, procedimentos cirúrgicos, complicações precoces e tardias e resultado anatomopatológico das peças cirúrgicas. Os dados foram analisados de forma descritiva e comparados com outros estudos. Resultados: O perfil clínico dos pacientes foi condizente com a literatura. Nove foram submetidos a tratamento cirúrgico, sendo realizadas sete proctocolectomias com anastomose em bolsa íleo-anal e duas colectomias totais, além de oito ileostomias. As complicações pós-operatórias ocorreram em 55,5% dos The surgical treatment of patients with ulcerative colitis from an university hospital at Natal, BrazilSuelene Suassuna Silvestre de Alencar et al.

Introduction: aggressive angiomyxoma is a highly aggressive, rare neoplasm of the mesenchymal tissue with a high recurrence rate. It represents an important differential diagnosis of pelvic tumors in women of reproductive age. This study aims to describe a case of aggressive angiomyxoma. Case report: woman, 37 years old, complained about a bulge on the right perianal region, and anal itching and burning, bleeding, tenesmus and incontinence. The proctologic examination confirmed the perianal bulge and extrinsic compression of the posterior wall of the rectum. Computed tomography (CT) of the pelvis showed a well-defined pelvic mass extending to the right rectal area. Exploratory laparotomy showed a mass of fibro elastic consistency adjacent to the pelvic organs and closely attached to the distal rectum, and performed a resection of the pelvic tumor afterward. Anatomopathological analysis revealed an aggressive angiomyxoma. Magnetic resonance imaging (MRI) of the pelvis showed signs of recurrence in the pelvic cavity on the right side of the rectum. A surgical procedure was performed to resect the lesion. After an asymptomatic period, the MRI showed solid growths located in the right ischiorectal fossa. A new surgical procedure identified only retention cysts in the pelvis and right ischiorectal fossa, only lysis of adhesions was performed. The patient is currently undergoing follow-up without disease recurrence.

Introduction Anal carcinoma is a rare variant of epithelial tumors of the anal canal. When associated with chronic and active anal fistulas, usually this is an aggressive cancer that has difficult diagnosis and poor prognosis. Anal fistulas are a common manifestation of Crohn's disease (CD). This study aims to report a case of mucinous adenocarcinoma originating from recurrent perianal fistula in patients with CD. Case report A man of 43 years, with melanoderma, complaining of perianal tumors, anal pain and mucopurulent secretion, the patient was diagnosed with fistulae. Colonoscopy revealed a chronic inflammatory process associated with villous polypoid lesion in the colonic and rectal mucosa. In a new episode, where it was diagnosed, chronic colitis of rectum and sigmoid was being prescribed sulfasalazine with improvement. There were relapses and the patient underwent repeated fistulectomias. After investigation, CD was diagnosed. Computed tomography (CT) of abdomen and pelvis showed multiple perineal and gluteal collections, and the patient underwent abdominoperineal resection of the rectum. Anatomopathological exam showed invasive mucinous adenocarcinoma. A new CT showed residual growth of the lesion. The patient was referred to the oncology referral service, where chemotherapy and radiotherapy were planned. The patient developed unfavorably, and his death occurred two months after treatment.

Introduction  Small bowel neoplasms are rare entities, with only 3.2% of gastrointestinal tumors localized in this segment. Adenocarcinoma is the second most common histologic type among small bowel neoplasms. The disease's symptoms are non-specific, with abdominal pain being the most common. Among the complications, fistulas are a far rare condition. Case report  We present the case of an 86-year-old woman, hypertensive, diabetic, and former smoker, with lower abdominal pain, hematuria, fecaluria and fever associated with weight loss. Upon physical examination presented pale mucous membranes. Magnetic resonance imaging of the abdomen showed parietal thickening in the distal ileum segment with an anterior wall bladder fistula. Absence of metastases. Subjected to transurethral endoscopic biopsy of the bladder lesion, which anatomopathological study was compatible with invasive mucinous adenocarcinoma. An enterectomy was performed with primary enteroanastomosis, associated with partial cystectomy by videolaparoscopy. Anatomopathological study of the surgical specimens concluded mucinous adenocarcinoma with signet ring cells located in the small bowel and bladder. Immunohistochemical exam has identified findings compatible with mucinous adenocarcinoma of origin in the small bowel. The patient evolved well, being discharged, and returned to postoperative follow-up without signs of relapse of the disease. Conclusion  The relative inaccessibility of the small bowel and the malignant neoplasms’ non-specific symptoms make an early diagnosis difficult. Discovery of the disease, often only at an advanced stage, results in complications and less effective therapy. The laparoscopic approach might be advantageous and effective in the treatment of advanced small bowel cancer with invasion of adjacent structures.

Cerca de 25% dos portadores de câncer colorretal apresentam metástase hepática no momento do diagnóstico do tumor primário. A ressecção tumoral completa (primário + metástases) é a forma mais eficiente de tratamento, porém a apresentação sincrônica (com metástase hepática) tem sido associada a pior prognóstico. Atualmente, algumas estratégias são propostas para otimizar o prognóstico, uma delas é a alteração na sequência do tratamento proposta por Mentha et al. O tratamento clássico é a ressecção do tumor primário seguido de quimioterapia e posterior cirurgia hepática. Mentha et al. propuseram a chamada "abordagem reversa", na qual o tratamento se inicia com quimioterapia sistêmica seguida de ressecção hepática e posterior tratamento da lesão primária, resultando em benefícios em termos de sobrevida. O objetivo é descrever a concomitância de duas neoplasias tratadas com sequência inversa de tratamento para câncer colorretal com metástase hepática, a partir de um relato de caso. A metodologia adotada foi a coleta de informações a partir prontuário da paciente e complementado por pesquisas na base de dados do PubMed. L.O.B., 30 anos, feminino. Em dezembro de 2013, queixa-se de hematoquezia e tenesmo há 1 ano, com colonoscopia indicando lesão ulcerovegetante de reto médio. TC abdominal evidenciou espessamento das paredes do reto médio, linfadenomegalia perirretal, nódulos hepáticos no segmento II e V com 2,7cm e 0,4cm, respectivamente. Posteriormente, apresenta RM de Pelve: lesão expansiva de reto médio T3/T4 e linfadenomegalia mesorretal. A conduta foi avaliação de sequência inversa de tratamento para neoplasia de reto com metástase hepática: radioterapia e quimioterapia seguidas por hepatectomia e posteriormente retossigmoidectomia. A paciente concluiu 10 ciclos de quimioterapia e 28 sessões de radioterapia neoadjuvante em março de 2014, quando apresentou TC abdominal evidenciando hepatomegalia, com lesões no segmento II de 3,5cm e V de 1,5cm. Foi realizada lobectomia hepática, cuja biópsia indicou adenocarcinoma moderadamente diferenciado infiltrando o fígado. Em julho de 2014, foi realizada retossigmoidectomia abdominal com excisão total de mesorreto e ileostomia, cujos resultados indicaram adenocarcinoma de retossigmóide com margens livres, metástase em 1 de 3 linfonodos examinados e extensão extracapsular presente, T4aN1. Em agosto de 2012, a paciente, assintomática, foi encaminhada à oncologia clínica. Conclui-se que o emprego da sequência inversa de tratamento além das outras opções terapêuticas para neoplasia de reto com metástase hepática possibilitou a transformação de pacientes multinodulares em pacientes crônicos. Assim, pacientes que teriam, no máximo, 20 meses de sobrevida no passado, hoje podem viver cinco anos com a doença. Trata-se de um grande avanço.