ABSTRACT
Breast cancer still represents a serious health problem and is currently the most frequent malignancy in the female population in developed countries. In Cyprus, there are 300 new cases annually. In the present study, histology, electron microscopy, immunohistochemistry, and Western blot analysis were used to investigate 100 cases of invasive breast carcinoma. In addition, mutation analysis for the BRCA1 gene was carried out in patient DNA from 26 families with multiple cases of breast/ovarian cancers. Of note are the results of molecular biology which show that there are no germline truncating mutations in the BRCA1 gene in these 26 Cypriot breast cancer families. Furthermore, Western blot analysis revealed the presence of multiple BRCA1 bands in homogenates of tumor and normal tissues, and immunoelectron microscopy showed the presence of nuclear staining for BRCA1 antibodies.
Subject(s)
Breast Neoplasms/genetics , Breast Neoplasms/ultrastructure , Genes, BRCA1 , Germ-Line Mutation/genetics , Adult , Aged , BRCA1 Protein/metabolism , Blotting, Western , Breast Neoplasms/epidemiology , Breast Neoplasms/metabolism , Cyprus/epidemiology , Female , Humans , Immunohistochemistry , Microscopy, Immunoelectron , Middle Aged , Polymorphism, Single-Stranded ConformationalABSTRACT
Mitochondrial encephalomyopathies (MEs) are a heterogeneous group of multisystem disorders with extreme variability in clinical phenotype. Due to their complex nature, accurate diagnosis requires a coordinated approach, based on clinical and various laboratory data. Despite the introduction of biochemical assay of mitochondrial enzymes and the availability of mtDNA mutation analysis, the diagnosis of MEs still relies heavily on morphological methods. The latter include histology, histochemistry, and electron microscopy. A comparative study was undertaken to define the contemporary role of electron microscopy in the morphological diagnosis of MEs. Muscle biopsies from 20 patients with MEs, 9 children and 11 adults, were evaluated by histology, enzyme histochemistry, and electron microscopy. The results clearly demonstrate that electron microscopy is of importance in providing essential diagnostic information in pediatric patients, but is of lesser value in the diagnosis of adult cases, where it provides only supplementary information.
