ABSTRACT
BACKGROUND: Lynch syndrome (LS) diagnosis is underestimated, and most of the patients remain undetected after colorectal resections. The study aims to assess the frequency of LS in patients undergoing surgical treatment for colorectal cancer (CRC). METHODS: A total of 458 CRC patients were operated from January 2005 to December 2008. Positive CRC family history (FH) was present in 118 (25.8%) patients. Histologic sections were reviewed for microsatellite instability (MSI) criteria (Bethesda guidelines), immunohistochemical (IHC) analysis for MLH1, MSH2, MSH6, PMS2 proteins, through the avidin-biotin-peroxidase complex, MSI (BAT-25, BAT-26, NR-21, NR-24 and MONO-27) and BRAF somatic mutation. RESULTS: Of the 118 patients with FH, 61 (51.69%) met at least one of the revised Bethesda criteria. IHC was abnormal in 8 (13.1%) and MSI in 12 patients (20%). BRAF was negative in all cases. MSI histopathological included: intratumoral lymphocytes (47.5%), expansive tumors (29.5%) mucinous component (27.8%) and Crohn's like reaction in (14.7%). There was an association between the revised Bethesda criteria with: sex, mucinous histology and Crohn's like reaction; MSI and IHC with PMS2 and MLH1. Revised Bethesda criteria 4 had 10.6 increased chances to display positive MSI. We have proposed a score to contribute as a practical tool in the diagnosis of LS. CONCLUSIONS: The frequence of LS in resected CRC patients was 2.6%. The criterion 4 Revised Bethesda was associated more strongly with the presence of MSI.
ABSTRACT
UNLABELLED: Forty-eight adult patients with celiac disease between 15 and 68 years of age (mean, 41 years) were studied. Sixty-seven percent were female and 33% were male patients. Most of the patients were white (98%). The main clinical features were diarrhea (90%), weight loss (70%), and abdominal pain (56%). On physical examination, the main findings were pallor (40%), aphthous stomatitis (31%), and arthralgia (23%). Associated disorders included diabetes mellitus type I, osteoporosis, and atopy (6% each); dermatitis herpetiformis and depression (4% each); and hypothyroidism, hyperthyroidism, duodenal carcinoma, and Gilbert syndrome (2% each). The histologic results according to Marsh criteria (modified by Rostami) are as follows: type I, 10%; type II, 21%; type IIIa, 19%; type IIIb, 17%; and type IIIc, 33%. The sensitivity and specificity for the antiendomysium antibody-immunoglobulin A test were 92% and 100%, respectively, when considering the whole group of patients; however, the sensitivity (but not the specificity) decreased to 86% when taking into account only the group of patients with mild histologic alterations (Marsh type I, II, and IIIa). CONCLUSION: In general, the authors' results are similar to those described in developing countries, indicating that celiac disease might have the same spectrum of presentation regardless of the region studied.
