The only modifiable determinant of morbidity seems to be the time to surgery. Only an expeditious evaluation and diagnosis and prompt surgical intervention can improve the prognosis of these patients.

Introduction Over the last decades, treatment for rectal cancer has substantially improved with development of new surgical options and treatment modalities. With the improvement of survival, functional outcome and quality of life are getting more attention. Study objective To provide an overview of current modalities in rectal cancer treatment, with particular emphasis on functional outcomes and quality of life. Results Functional outcomes after rectal cancer treatment are influenced by patient and tumor characteristics, surgical technique, the use of preoperative radiotherapy and the method and level of anastomosis. Sphincter preserving surgery for low rectal cancer often results in poor functional outcomes that impair quality of life, referred to as low anterior resection syndrome. Abdominoperineal resection imposes the need for a permanent stoma but avoids the risk of this syndrome. Contrary to general belief, long-term quality of life in patients with a permanent stoma is similar to those after sphincter preserving surgery for low rectal cancer. Conclusion All patients should be informed about the risks of treatment modalities. Decision on rectal cancer treatment should be individualized since not all patients may benefit from a sphincter preserving surgery “at any price”. Non-resection treatment should be the future focus to avoid the need of a permanent stoma and bowel dysfunction.

Background and objectives  Surgery for Crohn disease has a wide range of factors that are being studied as possible risk factors for postoperative complications. The later are a major problem in those patients and are associated with longer hospital stays and increased mortality and morbidity. Despite the debate regarding the influence of patients’ characteristics, preoperative and operative details, the risk factors are not fully identified. The debate has been focused on the new medical therapy and the time of surgery. Our goal was to help identify and confirm risk factors for postoperative complications. Materials and methods  A retrospective cohort study including all patients operated due to Crohn disease in São João Hospital Center from 2010 to 2015. We analyzed patient, preoperative and surgical characteristics. For postoperative complications data only those occurring within 30 days were included. Results  Neither age at diagnosis or previous corticotherapy/anti-TNF/ustekinumab was significantly associated with an increased risk in postoperative complications. Only age at surgery >40 years (Montreal Classification A1 + A2 vs. A3; OR = 4.12; p < 0.05) and the group others (occlusion vs. others [combination of intestinal perforation, mesenteric ischemia and postoperative complications] vs. fistula/abscess as indication for surgery; OR = 4.12; p < 0.05) remained as independent risk factors after multivariable regression analysis. Conclusions  We described clear associations between age at surgery >40 years and the group others (intestinal perforation, mesenteric ischemia and postoperative complications) and overall postoperative complications in Crohn disease. These results may suggest that surgery does not need to be delayed and, in some cases, should be anticipated.

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.

Introduction: Approximately 20% - 30% of histological lymph node-negative patients with colorectal cancer relapse at five years after surgical treatment. This recurrence is likely due to occult nodal disease undetected by standard histopathological practice which has implications in terms of the clinical management of patients.Material and Methods: Lymph nodes were collected from colectomy specimens. A central section from each lymph node was histologically examined following haematoxylin-eosin staining and the remaining tissue was subjected to OSNA - one step nucleic acid amplification analysis.Results: A total of 1046 lymph nodes from 59 pN0 patients were assessed. Of these, 753 lymph nodes were examined by both methods. The median number of lymph nodes assessed with OSNA - one step nucleic acid amplification was 12 (IQR: 7;16). Among pN0 patients, 17 had OSNA - one step nucleic acid amplification-positive lymph nodes, resulting in a positive molecular staging rate of 28.8% (95% CI: 17.8 - 42.1). Among these patients, 12 (70.59%) were molecular-staged as pN1 and 5 (29.41%) were molecular staged as pN2. The tumour burden of lymph nodes assessed with OSNA - one step nucleic acid amplification ranged from 270 to 17 000 cytokeratin 19 mRNA copies/μL. Most of these patients (88.2%) were found to have lymph nodes with micrometastases only (250 - 4999 copies/μL).Discussion: We provide the results from the first study of the use of the OSNA - one step nucleic acid amplification assay in colorectal cancer patients in Portugal. Our results are in-line with other international studies, showing the improvement on patients’ staging by molecular examination of lymph nodes.Conclusion: In our study, 28.8% of patients with histologically negative lymph nodes were found to have metastatic lymph nodes using OSNA - one step nucleic acid molecular assessment. OSNA - one step nucleic acid assay allows a more accurate staging of patients with colorectal cancer and standardizes lymph node assessment.

Background Colorectal cancer in pregnancy is a rare pathology with limited high-grade evidence available for guidance. The diagnosis of CRC in pregnant women is usually delayed, and once diagnosis is made, challenges exist as treatment options may be limited. Objective The study aims to highlight the importance of early investigation of symptomatic patients during pregnancy, as well as to update treatment and prognosis in CRC. Methods A literature search in PubMed database, including articles from 2006 to 2016 and cross-research articles with the initial research. Results Pregnancy can limit and contraindicate the utilization of standard diagnostic and therapeutic tools, which in particular can hamper the liberal use of colonoscopy and CT. Physical evaluation and abdominal US are first recommended; besides, MRI or CT may be used, only in indicated cases. Surgery is the main stay of treatment but radiotherapy and chemotherapy have significant role in posterior management of tumour. Conclusions Many studies are needed in order to achieve development in CRC pathogenesis during pregnancy as well as in treatment outcomes. The potential curative treatment of the disease should be the main aim of treatment when considering CRC in pregnancy. However, it is crucial to adapt the treatment to each patient, taking into account conscious decision on pregnancy further management.

Background Cowden’s syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration, and cellular apoptosis. Its clinical presentation encompasses mucocutaneous lesions, which are present around 99% of the time; macrocephaly; and cognitive impairment, and it precedes the appearance of neoplasms such as thyroid carcinoma, breast cancer, among others. In addition to these malformations, arteriovenous malformations of the brain and spine, endocrine abnormalities, skeletal defects, and cardiopulmonary lesions may also be found. The relevance of the case is due to the fact that, through a certain phenotype, the patient’s genotype can be inferred and thus followed up closely. Case representation The clinical case concerns a 28-year-old Caucasian and Portuguese woman with palmar pits, macrocephaly, and cognitive impairment. She was diagnosed with papillary thyroid carcinoma at 22 years of age and proposed total thyroidectomy. At age 27, a pregnancy was diagnosed with a Breast Imaging-Reporting and Data System 2-rated breast lump. After the histological verification, it was concluded that it was a high metastatic breast sarcoma, opting for palliative mastectomy. A genetic evaluation confirmed alteration in the phosphatase and tension homolog gene, confirming Cowden’s syndrome. The patient died at age 29 due to neoplastic pathology. Conclusion This report aims to alert to the clinical signs of this entity and the clinical supervision and follow-up of these patients. In order to prevent premature deaths and to improve patient’s quality of life, genetic diseases with cancer impact should be diagnosed as early as possible.

Background Crohn's disease is an inflammatory disease that can reach any part of the gastrointestinal tract. This disease has been associated with an increased neoplastic risk, including colorectal carcinoma. Objective The objective of this work is to describe the mechanisms present in two diseases, and that are responsible for the increased risk in Crohn's disease. Methods A bibliographic research was conducted in PubMed database. In addition to the articles obtained with an inserted query in Pubmed, other references relevant to the topic in question were included. Results Colorectal cancer risk varies according to the presence of certain factors, and an example of this is Crohn's disease. Chronic inflammation seems to be an important contribution to carcinogenesis, since it creates a microenvironment suitable for the onset and progression of the disease. There are molecular changes that are common to two conditions, thus justifying the fact of Crohn's disease being a risk factor for colorectal carcinoma. The disease control with an appropriate therapy and with surveillance are two ways to control this risk. Conclusions A proinflammatory state is the cornerstone in the association between Crohn's disease and colorectal carcinoma. The implementation of surveillance strategies allowed a decrease in morbidity and mortality associated with this cancer.