Surgical resection, intraoperative radiotherapy and immediate plastic reconstruction: A good option for the treatment of distal extremity soft tissue sarcomas.

AIM: To show three patients with soft tissue sarcomas of distal extremities conservatively treated after tumor-board discussion, involving margin-free surgery, exclusive intraoperative radiotherapy, and immediate reconstruction. BACKGROUND: Current guidelines show clear and robust recommendations regarding the composition of the treatment of sarcomas of extremities. However, little evidence exists regarding the application of these treatments depending on the location of the primary neoplasia. Tumors that affect the distal extremities present different challenges and make multidisciplinary discussions desirable. METHODS/RESULTS: We reported 3 patients who were approached with a conservative intention, after tumor board recomendation. The goals from the treatment performed were aesthetic and functional preservation, while enruring locoregional control. We had wound healing complications in 2 of the cases, requiring additional reconstruction measures. Patients are followed up for 24, 20 and 10 months; local control is 100%, and functional preservation is 100%. CONCLUSIONS: Despite being a small series, it was sufficient to illustrate successful multidisciplinary planning, generating a therapeutic result with improved quality of life for patients who had an initial indication for extremity amputation.

Hartmann's reversal as a safe procedure for selected patients: analysis of 199 patients at a high-volume center in Sao Paulo.

PURPOSE: We analyzed the morbidity and mortality associated with Hartmann's reversal (HR) and the risk factors for major complications and mortality. METHODS: The subjects of this retrospective study were patients who underwent HR in a high-volume center. We evaluated complications as categorical variables using univariate analyses. RESULTS: Between 2003 and 2018, 199 patients underwent HR at our hospital [56.5 years; body mass index (BMI): 26.3 kg/m2; American Society of Anesthesiology score (ASA) 3: 7.5%; 36.2% had hernias]. The mean time to HR was 20.2 months and the mean operation time was 302 min. The anastomosis was stapled in 71.4% and was performed in the low/medium rectum in 21.6%. Midline hernias were repaired with mesh in 80.1%. The mean hospitalization period was 10.1 days. Surgical site infection (SSI) developed in 27.1% of the patients, 94.4% of whom were treated at the bedside. BMI was a risk factor for SSI (27.8 vs. 25.6; p = 0.047). Major complications (Clavien-Dindo III-V) developed in 27 patients (13.5%), including anastomosis dehiscence in 2.5%. ASA, BMI, age, hernia repair, and rectal stump size were not associated with major complications. The mortality rate was 2.5%. An ASA of 3 was associated with high mortality (p = 0.03). CONCLUSION: Hartmann's reversal remains challenging but can have low complication and mortality rates if performed on selected patients in a reference center. An ASA of 3 was the only predictor of mortality.

Late assessment of quality of life in patients with rectal carcinoma: comparison between sphincter preservation and definitive colostomy.

PURPOSE: Patients with cancer of the lower and middle rectum who are candidates for curative surgery often have negative opinions on definitive colostomy. The purpose of this study is to compare the quality of life (QoL) of patients who undergo standard treatment for rectal cancer with sphincter preservation or definitive colostomy. METHODS: A total of 125 patients with adenocarcinoma of the lower or middle rectum who underwent radical surgery with curative intent with a follow-up ≥ 1 year were recruited: 83 patients (group 1) were subjected to low anterior resection and low colorectal or coloanal anastomosis-thus preserving their sphincter-and 42 (group 2) were treated with abdominoperineal resection, followed by terminal definitive colostomy. QoL was assessed with the EORTC QLQ-C30 and QLQ-CR29 questionnaires. RESULTS: Health and global quality of life were similar between groups; however, patients who underwent definitive colostomy had higher scores on the emotional (p value = 0.016) and cognitive function scales (p value = 0.017). Patients with sphincter preservation presented with more symptoms that were related to stool frequency (p value < 0.001), intestinal constipation (p value = 0.005), fecal incontinence (p value = 0.001), buttock pain (p value = 0.023), and nausea and vomiting (p value = 0.036), whereas patients with permanent colostomy had higher scores for dysuria (p value = 0.033). CONCLUSION: Although global QoL scores did not differ between groups, patients who underwent definitive colostomy had significantly better functional and symptom scale scores, reflecting greater function with fewer symptoms.

Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.

BACKGROUND: Some single-nucleotide polymorphisms are associated with higher risk of colorectal cancer development and are suggested to explain part of the genetic contribution to Lynch syndrome. AIM: To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features. MATERIALS AND METHODS: DNA was obtained from peripheral blood and polymerase chain reaction (PCR) was performed, followed by direct sequencing. RESULTS: The Val allelic of the I219V polymorphism was found in 51.61% (64/124) of the individuals, with an allelic frequency of 0.3. MLH1 or MHS2 pathogenic mutations were found in 32.81% (21/64) and in 23.33% (14/60) of Val-carriers and non-carriers, respectively. CONCLUSION: The Val-carrying genotype was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer.

Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries.

BACKGROUND: Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is an autosomal dominant disease characterized by mutations in the mismatch repair genes mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), postmeiotic segregation increased 1 (PMS1), post-meiotic segregation increased 2 (PMS2) and mutS homolog 6 (MSH6). Mutation risk prediction models can be incorporated into clinical practice, facilitating the decision-making process and identifying individuals for molecular investigation. This is extremely important in countries with limited economic resources. This study aims to evaluate sensitivity and specificity of five predictive models for germline mutations in repair genes in a sample of individuals with suspected Lynch syndrome. METHODS: Blood samples from 88 patients were analyzed through sequencing MLH1, MSH2 and MSH6 genes. The probability of detecting a mutation was calculated using the PREMM, Barnetson, MMRpro, Wijnen and Myriad models. To evaluate the sensitivity and specificity of the models, receiver operating characteristic curves were constructed. RESULTS: Of the 88 patients included in this analysis, 31 mutations were identified: 16 were found in the MSH2 gene, 15 in the MLH1 gene and no pathogenic mutations were identified in the MSH6 gene. It was observed that the AUC for the PREMM (0.846), Barnetson (0.850), MMRpro (0.821) and Wijnen (0.807) models did not present significant statistical difference. The Myriad model presented lower AUC (0.704) than the four other models evaluated. Considering thresholds of ≥ 5%, the models sensitivity varied between 1 (Myriad) and 0.87 (Wijnen) and specificity ranged from 0 (Myriad) to 0.38 (Barnetson). CONCLUSIONS: The Barnetson, PREMM, MMRpro and Wijnen models present similar AUC. The AUC of the Myriad model is statistically inferior to the four other models.

Inclusion of computed tomographic colonography on pre-operative CT for patients with colorectal cancer.

OBJECTIVES: To evaluate the impact of the inclusion of computed tomographic colonography (CTC) involving faecal tagging and no laxatives on the computed tomography (CT) study routinely used in staging patients with colorectal cancer. METHODS: CTC was performed on 25 patients who had a diagnosis of colorectal carcinoma, with pathological correlation. Researchers recorded the accuracy of the CTC for staging colorectal cancer, as well as any changes to the plans for surgery based on this exam. The patients' tolerance of the preparation required and the quality of the exams was also evaluated. RESULTS: All exams were well-tolerated, and only one had unsatisfactory quality. CTC identified all the carcinomas and had an overall accuracy of 80%, 60.1% and 100% for the evaluation of tumour depth, lymph nodes and metastases respectively. CTC identified all polyps greater than 9 mm. Following CTC, changes to surgical plans were observed in 20.8% of the cases, all with incomplete optical colonoscopies. CONCLUSIONS: CTC proved useful for the pre-operative evaluation of patients with a diagnosis of colorectal carcinoma, affecting plans for surgery in a expressive number of patients with an incomplete colonoscopy.

Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry.

Lynch syndrome (LS) is caused by inherited germline mutations in mismatch repair (MMR) genes. It is one of the commonest forms of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is characterized by early age of onset, with a tendency for multiplicity and an increased risk for extra-colonic tumors at particular sites. In this study we have evaluated the frequency of extra-colonic tumors in 60 unrelated LS families fulfilling the Amsterdam criteria (ACI. ACII) from the Oncotree database of the Hereditary Colorectal Cancer Registry of the AC Camargo Hospital. All families' pedigree was extensively analyzed, varying from 2 to 6 generations with a total of 2,095 individuals evaluated. As expected, colorectal cancer was the most frequent tumor in the families (334 cases). We found 200 extracolonic tumors among all individuals with a higher ratio in women (123 cases) than men (77 cases). By far, breast cancer (32 cases) was the most frequent extracolonic manifestation in women followed by endometrial (20 cases) and uterine cervix cancer (20 cases). For man, prostate (16 cases) and stomach (12 cases) cancer were the most frequent extracolonic tumors. It is well know that establishing the diagnosis is challenging and requires knowledge and surveillance. Thus, recognition of individuals and families with hereditary predisposition to cancer according to clinical and molecular features, combined with intensive surveillance and management programs, can contribute substantially to improve results related to the diagnosis and characterization of LS.