RESUMO
INTRODUCTION: Lynch Syndrome (LS) is a genetically inherited autosomal disorder that increases the risk of many types of cancer, especially colorectal cancer (CRC). Identifying these subjects improves morbidity and mortality. We aimed to assess the prevalence of LS with both clinical criteria and universal strategy in Mashhad, Iran. METHODS: In this retrospective study, we screened 322 patients with CRC between 2013 and 2016 in Mashhad, Iran. CRCs were screened based on Amsterdam II criteria, revised Bethesda guideline, and universal strategy. Information regarding the clinical criteria was obtained by interviewing the patients or, their families. Tumors were screened by pathologists with IHC staining of four Mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, and PMS2). Tumors with absent IHC staining of MLH1 were tested for BRAF mutations to exclude sporadic CRCs. RESULTS: Of 322 CRCs, 33 cases were found to be deficient-MMR; 22 of these had concurrent loss of MLH1 and PMS2, followed by concurrent loss of MSH2 and MSH6 in 8 CRCs. Twenty-two cases with a loss of MLH1 underwent testing for the BRAF mutation, 4 of which were recognized as a positive BRAF mutation. Finally, 29 CRCs were found as being positive screen for LS. Poor sensitivity (21.74%) was found for the Amsterdam II criteria and a poor positive predictive value (15.39%) for the revised Bethesda. CONCLUSION: Application of clinical criteria may not be effective enough to identify LS and at least 2-antibody panel (PMS2, MSH6) should be conducted for newly diagnosed CRCs.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Testes Genéticos , Programas de Rastreamento , Adulto , Idoso , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Feminino , Predisposição Genética para Doença , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Proteínas Proto-Oncogênicas/genética , Estudos RetrospectivosRESUMO
Anthrax is an ancient disease of animals and men, caused by Bacillus anthracis. The diagnosis of cutaneous infection is relatively easy, but other clinical forms might escape recognition. We present two rare and fatal forms of anthrax: meningeal in a 33-year-old male shepherd and intestinal in a 4-year-old boy. The former was admitted to the hospital with complaints of headache, vomiting, fever, and decreased level of consciousness. The latter presented with abdominal pain and distension, vomiting, and fever. Both cases were proven by animal inoculation.
