The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil

The Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for hereditary breast and colorectal cancer syndrome screening. Her private insurance denied coverage for genetic testing because she lacks current or previous cancer diagnosis. After she appealed by lawsuit, the court was favorable and the test was performed using next-generation sequencing. A deletion of MLH1 exon 8 was found. We highlight the importance to offer genetic testing using multigene analysis for noncancer patients.

A retrospective study of histopathological findings in 894 cases of megacolon: what is the relationship between megacolon and colonic cancer?

Patients with megaesophagus (ME) have increased prevalence of cancer of the esophagus. In contrast, a higher incidence of colorectal cancer is not observed in patients with megacolon (MC). MC is very common in some regions of Brazil, where it is mainly associated with Chagas disease. We reviewed the pathology records of surgical specimens of all patients submitted for surgical resection of MC in the Hospital das Clínicas of the Faculty of Medicine of Ribeirão Preto (HC-FMRP), from the University of São Paulo. We found that 894 patients were operated from 1952 until 2001 for MC resection. Mucosal ulcers, hyperplasia and chronic inflammation were frequently found, while polyps were uncommon. No patients with MC presented any type of colonic neoplasm. This observation reinforces the hypothesis that MC has a negative association with cancer of the colon. This seems to contradict the traditional concept of carcinogenesis in the colon, since patients with MC presents important chronic constipation that is thought to cause an increase in risk for colon cancer. MC is also associated with other risk factors for cancer of colon, such as hyperplasia, mucosal ulcers and chronic inflammation. In ME these factors lead to a remarkable increase in cancer risk. The study of mucosal cell proliferation in MC may provide new insights and useful information about the role of constipation in colonic carcinogenesis.

Association of chagasic megacolon and cancer of the colon: case report and review of the literature

There are few descriptions of association between chagasic megacolon and colon cancer. We report a case of obstructive abdomen caused by adenocarcinoma of the left colon in chagasic megacolon. A review of the literature revealed 8 cases of this association and, analyzing together the series of findings of cancer in chagasic organomegalies, we found a frequency of 4.8% in megaesophagus and 0.1% in megacolon.

Orifice diseases project - experience of the "Hospital das Clínicas" University of São Paulo Medical Center in day-hospital of anorectal disease

The treatment of malignant or benign colorectal pathologies that require more complex management are priorities in tertiary hospitals such as "Hospital das Clínicas" University of São Paulo Medical Center (HCFMUSP). Therefore, benign, uncomplicated orifice conditions are relegated to second place. The number of patients with hemorrhoids, perianal fistulas, fissures, condylomas and pilonidal cysts who seek treatment at the HFMUSP is very great, resulting in over-crowding in the outpatient clinics and a long waiting list for recommended surgical treatment (at times over 18 months). The authors describe the experience of the HCFMUSP over an eight-day period with day-hospital surgery in which 140 patients underwent surgery. Data was prospectively taken on the patients undergoing surgery for benign orifice pathologies including age, sex, diagnosis, surgery performed, immediate and late postoperative complications, and follow-up. 140 patients operated on over eight days were studied. 68 were males (48.75%) with ages ranging from 25 to 62 (mean 35.2 yrs.). Hemorrhoids was the most frequent condition encountered (82 hemorrhoidectomies, 58.6%), followed by perineal fistula (28 fistula repairs, 20.0%). The most common complication was headache secondary to rachianesthesia occurring in 9 patients (6.4%). One patient (0.7%) developed bleeding immediately PO that required reoperation. Mean follow-up was 104 days. Day-surgery characterized by quality care and low morbidity is feasible in tertiary public hospitals, permitting surgery for benign orifice pathologies on many patients within a short period of time.

Pelvic lymphoscintigraphy: contribution to the preoperative staging of rectal cancer

PURPOSE: Preservation of the anal sphincter in surgery for cancer of the distal rectum in an attempt to avoid colostomy has been a main concern of colorectal surgeons. Various proposed procedures contradict oncological principles, especially with respect to pelvic lymphadenectomy. Therefore, prior knowledge of pelvic lymph node involvement is an important factor in choosing the operative technique, i.e., radical or conservative resection. Introduction of ultrasound, computerized tomography, and magnetic resonance have made preoperative study of the area possible. Nevertheless, these resources offer information of an anatomical nature only. Lymphoscintigraphy enables the morphological and functional evaluation of the pelvic area and contributes toward complementing the data obtained with the other imaging techniques. The objective of this prospective study is twofold: to standardize the lymphoscintigraphy technique and to use it to differentiate patients with rectal cancer from those with other coloproctologic diseases. CASUISTIC AND METHODS: Sixty patients with various coloproctologic diseases were studied prospectively. Ages ranged from 21 to 96 years (average, 51 and median, 55 years). Twenty-six patients were male and 34 were female. Thirty patients had carcinoma of the distal rectum as diagnosed by proctologic and anatomic-pathologic examinations, 20 patients had hemorrhoids, 5 had chagasic megacolon, 2 had diverticular disease, 2 had neoplasm of the right colon, and 1 had ulcerative colitis as diagnosed by proctologic exam and/or enema. The lymphoscintigraphy method consisted of injecting 0.25 mL of a dextran solution marked with radioactive technetium-99m into the right and left sides of the perianal region and obtaining images with a gamma camera. The results were analyzed statistically with a confidence level of 95% (P < .05) using the following statistical techniques: arithmetic and medium average, Fisher exact test, chi-square test corrected for continuity according to Yates, and distribution tables for the number of patients. RESULTS: In rectal cancer, the tracer progresses unilaterally or is absent; in other patients, the progress of the tracer is bilateral and symmetrical, although its progress may be slow. Statistical tests showed with high significance that the agreement index between the clinical diagnosis and the result of the lymphoscintigraphic exam was 93%. CONCLUSIONS: Lymphoscintigraphy is a standardized, painless, and harmless test that can be performed in all cases; it differentiates patients with rectal cancer from those with other coloproctological diseases.

Surgical site infection and its risk factors in colon surgeries

Abstract OBJECTIVE To identify the occurrence of surgical site infection (SSI) and its risk factors in patients undergoing colon surgery in a tertiary hospital located in the countryside of the state of São Paulo. METHOD Retrospective cohort study, with collection of information contained in the medical records of patients undergoing colon surgery in the period between January 2010 and December 2013. The studied variables were the possible risk factors related to the patient, to demographic characteristics and the surgical procedure. RESULTS In total, were evaluated 155 patients with an overall SSI incidence of 16.7%. A statistically significant association was found both in the univariate as in the multivariate analysis between the SSI and the following variables: male gender, Charlson index and mechanical bowel preparation. CONCLUSION The understanding of health professionals about the factors that influence the incidence of SSI in colon surgery may contribute to the quality of care provided to surgical patients, from effective actions to minimize the risk of infections.

Descoberta simultânea de carcinomatose disseminada e carcinoma de cólon, após colecistectomia laparoscópica

A particularly rapid and fatal outcome has been noted in cases of malignant soft-tissue metastases occurring after cancer surgery. Abdominal wall metastases occurring in scars after laparotomy for cancer resection show a similar poor outcome. On the other hand, neoplasm seeding at trocar sites after laparoscopy has been reported with an increasing frequency. A case is presented of a 68-years-old woman with metastatic seeding of non-diagnosed colon cancer at the umbilical trocar site used for a laparoscopic cholecystectomy. The gallbladder was extracted through the umbilical incision. Pathological examination confirmed chronic cholecystitis. Eight months latter, the patient was seen with a tender umbilical mass protruded through a 4,5 cm the umbilical incision site. Biopsies of this tissue were taken and histopathological examination showed metastatic adenocarcinoma, probably of a gastrointestinal origin. A colonoscopy performed at the same time revealed a 2-cm lesion at the hepatic flexur which was shown to be a differentiated adenocarcinoma. An 8.0 x 6.0 x 6.0-cm pelvic mass without signs of liver metastases was identified by computerised tomography. Diagnostic laparoscopy showed a diffuse peritoneal carcinomatosis. The pelvis could not be approached, except for simple biopsy, and no surgical procedure was performed. It is presumed that the primary colon cancer existed prior to cholecystectomy. Laparoscopy is the procedure of choice to perform cholecystectomy and fundoplication. It has also been increasingly used to diagnose, resect and perform the staging of malignant tumours. As in any relatively new technique, questions arising about its safety and risk of complications must be extensively studied. Many questions about the specific features of laparoscopy promoting cancer growth remain unanswered.

Marcadores tumorais no câncer colorretal

Colorectal cancer is a clinical entity of a persistent relevance in clinical practice and its early diagnosis is a determinant factor to obtain better therapeutic results. Tumor markers are helpful means for a better approach to individuals with such neoplasm. In the present review, the authors analyze the phases in which surgical-clinical treatment markers must be used: diagnosis, determination of tumor stage, establishment of prognosis and detection of recurrence. Current and future markers and the consensus on their use are discussed. Causal factors for errors in diagnosis with markers and perspectives of use are also presented.

Ablação de tumor de canal anal tratado com laser de diodo: seguimento após 17 meses

The Nd:YAG laser is used as the palliative treatment of obstructive and/or hemorrhagic intestinal lesions with an effective but temporary symptomatic relief, with symptoms and signs recurrence after six to eight weeks. This report describes the treatment of a patient bearing a low rectal adenocarcinoma through diode laser ablation and the result after 17 months.

Câncer colo-retal hereditário

The colorectal cancer has become a world public health problem as a consequence of the great number of new cases which have been diagnosed each year and the existence of some conditions related to the disease's natural history that can be identified and the cancer prevented. Knowing the fact that 20% out of all colorectal cancers develops as part of a hereditary cancer syndrome, it is crucial that the physician (not only the surgeon) be updated with this entity, being able to recognize, and mainly, implement screening programs to identify family members at risk of developing cancer and to allow the intervention to prevent the occurrence of the adenoma-carcinoma sequence.

Duodenopancreatectomia e hemicolectomia direita em monobloco para tratamento de câncer de cólon direito localmente avançado

This article reports the case of a patient whit a diagnosis of diarrhea and weight loss. Subsidiary exams showed ulcerovegetant lesion in the second duodenal portion and duodenocolic fistula. An exploratory laparotomy was performed and a neoplasic lesion in the hepatic angle of the colon was observed invading the second duodenal portion. The patient then underwent a cephalic gastroduodenopancreatectomy associated with en bloc right hemicolectomy and improved well in the postoperative period. Currently, 48 months after the surgery, he does not present any signs of the disease dissemination or recurrence. The consulted literature recommends that multivisceral resection must be considered if the patient is clinically able to undergo major surgery and does not present any signs of neoplasic dissemination, since the postoperative survival time is considerably longer in the resected group and some of these patients even achieve cure.

Hemipelvectomia externa ampliada para tratar adenocarcinoma de sigmóide

Surgery is the most effective way of treating a locally advanced colorectal carcinoma and an extended en bloc resection is necessary to achieve the best overall survival rate. In this rare case, a multi-visceral resection was performed along with the entire lower left limb and left iliac bone for a sigmoid carcinoma. The T4N0M0 (B3) tumor involved the left iliac vessels, left pelvic wall, small bowel and both rectus muscles, besides presenting with a skin fistula. A Hartmann colostomy was also performed. Chemotheraphy was interrupted because of toxicity. The patient is free of disease after 38 months. There are very few cases that describe an extended hemipelvectomy as part of a colorectal carcinoma treatment.

Evaluation of an anti-carcinoembryonic monoclonal antibody suitable for immunoscintigraphy

An anti-carcinoembryonic antigen (CEA) monoclonal antibody (mAb 6D1.1) was evaluated in vitro and in vivo to determine its suitability as a tracer for immunoscintigraphy of colorectal carcinomas. Determination of mAb affinity for CEA showed a constant of association of 0.63 ± 0.11 x 109 M-1. Binding of technetium-99m (99mTc)-6D1.1, labeled by a direct method, to human cultured lineages was highly specific. Binding to only CEA-positive LS-174T cells resulted in a saturable curve inhibited by pre-incubation with unlabeled mAb. No binding at all was observed for the human lineages MeWo (melanoma) or ZR75-30 (breast carcinoma), neither of them expressing CEA cells. Intravenous injection of 99mTc-6D1.1 into nude mice xenografted with human LS-174T tumors resulted in planar images of excellent quality. Localization of an irrelevant mAb labeled with either 99mTc or iodine-125 was never observed in tumor masses. Biodistribution studies on excised tumoral tissue showed retention of 28.48% of the injected dose per gram of LS-174T tumor. The tumor-to-blood ratio was 3.46. The same analysis performed on the other three human xenografted tumors studied demonstrated that only the CEA-producing HT-29 (colorectal adenocarcinoma) retained 99mTc-6D1.1 while the other two (ZR75-30 and MeWo) did not. These data demonstrate that this mAb is an adequate tool for targeting CEA-expressing tumors in experimental models.

Microsatellite instability and cytogenetic survey in myeloid leukemias

Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML) in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML), by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%), with relapsed AML, showed an alteration in the allele length at a single locus. Cytogenetic analysis was performed in order to improve the characterization of leukemic subtypes and to determine if specific chromosome aberrations were associated with the presence of microsatellite instability. Several chromosome aberrations were observed, most of them detected at diagnosis and during follow-up of the patients, according to current literature. These findings suggest that microsatellite instability is an infrequent genetic event in myeloid leukemias, adding support to the current view that the mechanisms of genomic instability in solid tumors differ from those observed in leukemias, where specific chromosome aberrations seem to play a major role.

Preoperative cobalt60 irradiation delays the healing of rectal anastomoses in rats

The healing of colorectal anastomoses after irradiation therapy continues to be a major concern. The authors evaluated the healing of rectal anastomoses in a rat model after a preoperative 500-cGy dose of cobalt60 irradiation. Thirty-six male Wistar rats were divided into two equal groups: control (group A), and irradiation group (group B). Group B received a single 500-cGy dose of irradiation, and a rectal resection and end-to-end anastomosis was performed in both groups on the 7th day after irradiation. Parameters of the healing process included bursting pressure and collagen content on the 5th, 7th, and 14th days after surgery. In the irradiation group, the mean bursting pressure on the 5th, 7th, and 14th days was 116, 218, and 273 mmHg, respectively. The collagen content assessed by histomorphometry was 9.0, 20.8, and 32%, respectively. In contrast, the control group had a mean bursting pressure of 175, 225 and 263 mmHg, and a collagen content of 17.8, 28.1, and 32.1%, respectively. The adverse effect of irradiation on healing was detectable only on the 5th postoperative day, as demonstrated by lower bursting pressure (P < 0.013) and collagen content (P < 0.008). However, there was no failure of anastomotic healing such as leakage or dehiscence due to irradiation. We conclude that a single preoperative 500-cGy dose of irradiation delays the healing of rectal anastomosis in rats.