IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods.

Mutations in IDH1/2 genes are a marker of good prognosis for glioma patients, associated with low grade gliomas and secondary glioblastomas. Immunohistochemistry and Sanger sequencing are current standards for IDH1/2 genotyping while many other methods exist. The aim of this study was to validate Competitive amplification of differentially melting amplicons (CADMA) PCR for IDH genotyping by comparison with SNaPshot assay and two immunohistochemical methods. In our study, 87 glioma patients (46 from Olomouc and 41 from Ostrava) were analyzed. IDH1/2 mutations in native bioptical samples were analyzed at DNA level by CADMA and SNaPshot while IDH1 mutations in FFPE samples were analyzed at protein level by two IHC methods. CADMA PCR sensitivity for IDH1 was 96.4% and specificity 100% for 86 concluded samples. SNaPshot assay sensitivity was 92.9% and specificity of 100% for 85 concluded samples. IHC in the laboratory no. 2 reached sensitivity 85.7% and specificity 100% for 86 concluded samples. IHC in the laboratory no. 4 reached sensitivity of 96.4% and specificity of 79.7% in 74 concluded samples. Only one IDH2 mutation was found by SNaPshot while CADMA yielded false negative result. In conclusion, CADMA is a valid method for IDH1 p.(R132H) testing with higher sensitivity than SNaPshot assay. Also, molecular genetic methods of IDH1 testing from native samples were more robust than IHC from FFPE.

[Risk factors and progression predictors of Barrett´s oesophagus to adenocarcinoma]. / Rizikové faktory a prediktory progrese Barrettova jícnu do adenokarcinomu.

Gastroesophageal reflux disease is a quite common disorder, and the condition affects some 40 per cent of population in the course of their lifetime. Fortunately, about half of the patients examined due to clear symptoms do not manifest macroscopic damage of the oesophageal mucosa, and serious endoscopic findings (Barrett's oesophagus) are observed in only a small percentage of patients (10%). Barrett's oesophagus is a serious complication - precancerous condition with a 30-fold higher risk of development of oesophageal adenocarcinoma when compared with patients without this condition. The article presents risk factors and predictors of progression of the Barrett's oesophagus into the stage of adenocarcinoma. The main risk factors associated with oesophageal adenocarcinoma are male sex, white race, gastroesophageal reflux.