Emergency Presentation and Short-Term Survival Among Patients With Colorectal Cancer Enrolled in the Government Health Plan of Puerto Rico.

OBJECTIVE: In this study, we examine factors associated with the use of the emergency room (ER) as an entry point into the health-care system to initiate a cancer diagnosis among Puerto Rico's Government Health Plan (GHP) patients and compare the 1-year survival of GHP patients that initiated cancer diagnosis in the emergency room (ER) presentation with those that initiated the diagnosis in a physician's office. METHODS: Data for patients with colorectal cancer (CRC) aged 50 to 64 years and diagnosed in 2012 were obtained from the Puerto Rico Central Cancer Registry and linked to the Puerto Rico Health Insurance Administration database (n = 190). Crude odds ratio, adjusted odds ratio, and their 95% confidence intervals were reported. We used the Kaplan-Meier method to generate survival curves. Multivariate Cox regression analysis was performed to evaluate the association between ER presentation and 1-year cause-specific survival. RESULTS: We found that 37.37% of the study population had an ER presentation. Male patients had a higher occurrence of having an ER presentation (66.20%), while 76.06% of the patients with an ER presentation were diagnosed in late stage. Emergency room presentation was a highly predictive factor for cancer mortality in the year following the diagnosis. These patients had between 3.99 to 4.24 times higher mortality risk than non-ER presentation patients (P < .05). CONCLUSION: Late presentation for CRC diagnosis through an ER visit is a significant concern that influences negatively on the patient's outcome. Efforts at increasing primary care visits and routine screening tests among GHP beneficiaries could improve survival.

Case-case study of factors associated to hMLH1, hMSH2, and hMSH6 protein expression among endometrial cancer patients of the University District Hospital of San Juan, Puerto Rico.

UNLABELLED: Lynch syndrome (LS) is an autosomal dominant disorder caused by DNA mismatch repair (MMR) system deficiencies. Women affected by LS present a 40% to 60% lifetime risk of endometrial cancer (EC). OBJECTIVE: This case-case study aims to determine the frequency of the hMLH1, hMSH2, and hMSH6 MMR proteins and the factors (age, family history of cancer [FHC] related to LS, and body mass index [BMI]) associated to their absence in EC patients attending the University District Hospital of San Juan, Puerto Rico. MATERIALS AND METHODS: Twenty cases were preliminary evaluated for the MMR protein expression by immunohistochemistry testing and classified as positive cases (presence of protein) or negative cases (absence of protein). The statistical analysis was based on the logistic regression model using the maximum likelihood estimation (MLE). The Bayesian approach was used to determine the posterior probability (posterior Pr[odds ratio {OR} > 1]). RESULTS: Results showed absence for at least 1 MMR protein in 25% of the cases, 15% for hMLH1, and 10% for hMSH2. None of the cases showed an absence for hMSH6. The MLE demonstrated that women diagnosed with EC before the age of 50 (OR: 12.4; 95% confidence interval [CI] = 0.5-322.7), having FHC related to LS (OR: 17.7; 95% CI = 0.6-534.6), and having lower BMI (OR: 2.38; 95% CI = 0.39-14.28) present higher odds than their counterparts of lacking an MMR protein, once adjusted for potential predictors (P > 0.05). The posterior probability that an excess risk of lacking an MMR protein occurs was 95% or greater for each predictor. CONCLUSIONS: Our study in this Hispanic population supports previous studies in that younger age, FHC, and lower BMI are associated with increased odds of having an absence of MMR protein expression. Further studies with larger sample sizes should be performed.

MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms.

BACKGROUND: Muir-Torre Syndrome (MTS) is a rare autosomal-dominant disorder characterized by the predisposition to both sebaceous neoplasm and internal malignancies. MTS-associated sebaceous neoplasms reveal mutations in DNA mismatch repair (MMR) genes and microsatellite instability. A significant part of MTS patients represents a phenotypic variant, the hereditary nonpolyposis colorectal cancer (HNPCC). A strong correlation between microsatellite instability and immunostaining has been demonstrated. The early recognition of sebaceous neoplasm as part of MTS, and their differentiation from sporadic sebaceous neoplasm may have an important application in a clinical setting. The absence of MLH-1 or MSH-2 expression by immunostaining identifies tumors with mismatch repair deficiency. OBJECTIVES: Our aim is to determine whether an immunohistochemical approach, targeting DNA repair proteins MSH-2 and MLH-1 in MTS-related sebaceous neoplasm and their sporadic counterparts, can be used for their identification. METHODS: We examined 15 sebaceous neoplasms (including 6 internal malignancy- associated sebaceous neoplasms and 8 sporadic sebaceous neoplasms) from 11 patients for the expression of MSH-2 and MLH-1 by immunohistochemistry. RESULTS: Four of 5 internal malignancy-associated sebaceous neoplasms showed loss of expression of MSH-2 or MLH-1. Correlation of the immunostaining pattern of the sebaceous neoplasms and the patients' positive history of colon carcinoma was 80%. Seven of 8 sporadic sebaceous neoplasms showed a positive expression of MSH-2 and MLH-1. The prevalence for loss of expression of MMR proteins in sebaceous neoplasms was 38.5%. MMR immunostaining had 87.5% specificity and 80% sensitivity. LIMITATIONS: This study is limited by a small sample size, and by bias selection due to the use of non nationwide data-base as the resource of cases. CONCLUSIONS: Our findings demonstrate that immunohistochemical testing for internal malignancy-associated sebaceous neoplasms is a practical approach to confirm a suspected inherited MMR gene defect, and an accurate method to distinguish between sporadic and MTS-associated sebaceous lesions.

Cerebral thrombosis associated with active Crohn's disease

An increased incidence of cerebral thromboembolic events has been reported in young patients with inflammatory bowel disease (IBD). It has been suggested that a hypercoagulable state is associated with clinical activity of the disease, with elevation of factors V, VIII, fibrinogen and platelets and a lowering of anti-thrombin III. We present the case of a 35 y/o male with refractory Crohn's disease who complained of headaches, blurred vision and tonic-clonic seizures. The studies demonstrated an ischemic stroke of the left cerebral hemisphere, without vascular abnormalities. Elevation of factor VIII, platelets, and antithrombin III were found. The symptoms were relieved with medical treatment and the patient has continued in good health after resection of the diseased terminal ileum.