Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.

Hereditary leiomyomatosis and renal cell carcinoma syndrome is characterized by an increased risk of agressive renal cell carcinoma, often of type 2 papillary histology, and is caused by FH germline mutations. A prominent eosinophilic macronucleolus with a perinucleolar clear halo is distinctive of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma according to the 2012 ISUP and 2016 WHO kidney tumor classification. From an immunohistochemistry perspective, tumors are often FH-negative and S-(2-succino)-cysteine (2SC) positive.

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests.

Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time, and the uptake of targeted tests in relatives of families with BRCA1/2 or MMR genes mutation. Genetic testing and consultations for familial high-risk individuals are exclusively funded and monitored by the INCa in France. All nationwide cancer genetics centers reported annually standardized parameters of activity from 2003 to 2011.

Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.

Ewing sarcoma, a pediatric tumor characterized by EWSR1-ETS fusions, is predominantly observed in populations of European ancestry. We performed a genome-wide association study (GWAS) of 401 French individuals with Ewing sarcoma, 684 unaffected French individuals and 3,668 unaffected individuals of European descent and living in the United States. We identified candidate risk loci at 1p36.

Factors associated with altered long-term well-being after prophylactic salpingo-oophorectomy among women at increased hereditary risk for breast and ovarian cancer.

Background: Prophylactic bilateral salpingo-oophorectomy (PBSO) might alter several components of well-being, such as sexual functioning and endocrine symptoms, in women at high risk for hereditary breast and/or ovarian cancer, compared with the general population. We searched for factors associated with altered long-term well-being in this population (lower quality of life [QOL], altered sexual functioning, greater anxiety, more endocrine symptoms).

Methods: All high-risk women who had undergone PBSO during the past 15 years in a single cancer center were contacted by mail.

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspected HBOC families from several countries.

Characteristics, treatment, and outcome of breast cancers diagnosed in BRCA1 and BRCA2 gene mutation carriers in intensive screening programs including magnetic resonance imaging.

Background: Breast magnetic resonance imaging (MRI) with conventional screening methods improves sensitivity in high-risk patients without benefits on specific survival. We evaluated the characteristics, treatments, and prognostic features of breast cancers diagnosed among BRCA1/2 mutation carriers either inside or outside screening programs that included MRI.

Patients And Methods: Two groups of patients diagnosed with a new breast cancer between 2001 and 2007 were compared: group 1, patients included in an intensive screening program; and group 2, patients outside of this program.

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 which did not fulfil these criteria (6%). Most of the alterations corresponded to missense mutations (67%), and we identified in four families genomic deletions removing the entire TP53 locus, the promoter and the non-coding exon 1, or exons 2-10.

Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.

The G101W founder mutation is the most common CDKN2A mutation in Italy, Spain, and France. As the background of modifying genes, environmental exposures, and sun behavior vary across countries, studying G101W carriers from distinct countries offers a unique opportunity to evaluate possible modifying factors in melanoma development. We evaluated 76 G101W cases and 59 carrier controls from France, Italy, Spain, and the United States.

Dictyostelium discoideum cells shed vesicles with associated DNA and vital stain Hoechst 33342.

Dictyostelium discoideum cells are highly resistant to xenobiotics. We previously observed that these primitive eukaryotic cells contain a 170-kDa P-glycoprotein, mediating multidrug resistance in mammalian cells, but nonfunctional in Dictyostelium cells. We show here that D.

In adrenocortical tissue, annexins II and VI are attached to clathrin coated vesicles in a calcium-independent manner.

We have previously characterized three populations of clathrin coated vesicles (CCVs) isolated from bovine adrenocortical tissue and designated them as large, medium and small coated vesicles, i.e., LCV, MCV and SCV, respectively.

Specific lipid protein interactions characterize 3 populations of clathrin coated vesicles involved in the LDL receptor traffic.

We have previously isolated 3 different populations of clathrin coated vesicles (CCV) involved in the LDL-receptor traffic in bovine adrenal cortex. We now show that each CCV type contains the transferrin-R and the CI-MPR, therefore, they provide a good model for studying the membrane organization that may govern their targeting in one of the biosynthetic, endocytic and/or recycling pathways. Transferrin--prototype of recylcing ligand--, and alpha adaptin, dynamin and the 110 kDa phosphatidylinositol-3-kinase subunit--of the trafficking machinery--were mainly detected in only 2 of the vesicle populations which could be involved in the endocytic/recycling pathway.

High incidence of the t(2;5)(p23;q35) translocation in anaplastic large cell lymphoma and its lack of detection in Hodgkin's disease. Comparison of cytogenetic analysis, reverse transcriptase-polymerase chain reaction, and P-80 immunostaining.

Fifty-six cases of anaplastic large cell lymphoma (ALCL), 23 cases of Hodgkin's disease, and 16 cases of diffuse large cell lymphoma were investigated for the t(2;5)(p23;q35) translocation. The translocation was detected by using cytogenetic analysis, reverse transcriptase-polymerase chain reaction (RT-PCR) and immunohistochemistry with P80 antibody directed against the kinase domain of anaplastic lymphoma kinase (ALK) of the chimeric NPM/ALK protein. In all but three cases of ALCL, we found an agreement between cytogenetic analysis, RT-PCR, and P80 staining.

Biochemical characterization of algal coated vesicles.

Thin sections of tissue preparations from a green alga, Ulva lactuca (Ulvophyceae), and brown alga, Laminaria digitata (Pheophyceae) showed the presence of coated pits and coated vesicles in these 2 species. A discontinuous sucrose gradient after subcellular fractionation of the tissue homogenate resulted in an enriched coated vesicle fraction. Electron microscopy of negatively stained samples revealed the presence of coated vesicles of diameter ranging from 40-125 nm, together with large sheets of polygonal nets of clathrin.

Biochemical and functional characterization of three types of coated vesicles in bovine adrenocortical cells: implication in the intracellular traffic.

Three populations of pure coated vesicles from adrenocortical cells, differing in their density, i.e., 1.

Clustering in coated vesicles of polyunsaturated phospholipids segregated from plasma and Golgi membranes of adrenocortical cells.

In bovine adrenocortical cells, the fatty acyl chains of the phospholipids have been identified in the membranes of the different cell compartments: plasma membranes, Golgi complex and coated vesicle membranes. An increase in the total number of unsaturation in the fatty acid is demonstrated in the coated vesicle membranes as compared with the plasma and Golgi membranes. Furthermore, it appears that phosphatidylcholine and phosphatidylethanolamine are both enriched in polyunsaturated fatty acyl chains, namely arachidonic and adrenic acids in both types of coated vesicles.

[Pulmonary tuberculosis and primary infection in children. Retrospective study of 53 children].

A 4-year retrospective study of 53 children aged from 4 1/2 months to 16 years showed the persistent frequency of tuberculosis in a general paediatrics department: one out of 250 children of the same age admitted during the same period presented with tuberculosis. Acute febrile pulmonary manifestations (13%) were much less frequent than primary infections (87%) which were symptomatic in only one out of 2 cases. But, whether the primary infection was patent or latent, mediastinal lymphadenopathy was present in one out of 5 cases.

[Homology between antigenic determinants of bovine clathrin and clathrin from the brown alga Laminaria digitata].

Coated vesicles, essential organelles of intracellular membrane traffic, have been extensively studied in animal and higher plant cells. In the algae, cytological studies only have been performed which demonstrate the presence of such coated vesicles with their surrounding clathrin lattice. The present work has been carried out on coated vesicles isolated for the first time from the brown algae Laminaria digitata.

Lipid bilayer dynamics in plasma and coated vesicle membranes from bovine adrenal cortex. Evidence of two types of coated vesicle involved in the LDL receptor traffic.

Pure coated vesicles have been prepared from the bovine adrenal cortex and two homogeneous populations have been separated, one of large diameter (100 nm) and one of small diameter (70 nm). The chemical composition in lipids and proteins of coated vesicles has been compared with that of partially purified plasma membranes and evidences a higher protein/lipid ratio and a higher concentration in phosphatidylethanolamine and unsaturated fatty acids. Evaluation of the lateral diffusion of pyrene in the lipid bilayer of coated vesicles as compared to uncoated vesicles evidences a slowing-down effect of clathrin.

[Value of ultrasonic diagnosis in the evaluation of hip dislocation in neonates and infants. Apropos of 340 cases].

Ultrasound imaging of hip (UIH) was performed in 170 children (340 hips) with normal (193) and dysplasic (147) hips and findings compared with results of clinical and radiologic examinations. Ultrasound demonstrated 100% sensitivity in cases with abnormal clinical and radiologic finding, and 94% specificity for UIH when clinical and radiologic examinations were negative. Sensitivity and specificity of ultrasound screening (respectively 96 and 81%) were comparatively superior to those of radiography of the pelvis (83 and 78%) in relation to the clinical examinations.

Ligand-blotting visualization of the LDL receptor in plasma membranes and in two classes of coated vesicles from adrenocortical cells.

Two populations of coated vesicles, different in size, have been isolated from the bovine adrenal cortex. The enrichment of the LDL receptor from the plasma membrane to the large coated vesicles and then to the small ones was evidenced by ligand-blotting ELISA assays. The LDL receptor has been characterized as a 130-kDa proteic component which retains the binding specificity and structural features in plasma membranes as well as in the two classes of coated vesicles.

Effect of cholesterol and protein content on membrane fluidity and 3 beta-hydroxysteroid dehydrogenase activity in mitochondrial inner membranes of bovine adrenal cortex.

The steroid biosynthetic enzymes in the adrenal cortex are localised in endoplasmic reticulum and mitochondrial membranes. For some of the enzymes in endoplasmic reticulum the activity appears to be modulated by lipid fluidity, (21-hydroxysteroid hydroxylase and 3 beta-hydroxysteroid dehydrogenase). A mechanism for the regulation of corticosteroid biosynthesis mediated by the membrane fluidity has been suggested.