Search results for "Large series"
showing 3 items of 13 documents
C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (IN9-1.003)
2012
Objective: To assess the frequency and the phenotype of a large series of Italian sALS and fALS with C9ORF72 repeat expansions. Background Recently we found that large expansions of hexanucleotide repeats (GGGGCC) in the first intron of the C9ORF72 gene, located in the chromosome 9p21, are related to familial and sporadic ALS cases(Renton et al, 2011). Design/Methods: We assessed 126 index fALS (106 Italians, 20 of Sardinians) and 601 sALS (485 Italians, 116 Sardinians), negative for other ALS-related genes mutations. Patients were collected through the ITALSGEN consortium. Repeat primer PCR to screen the presence of the hexanucleotide expansion in the first intron of C9ORF72 have been perf…
Infradiaphragmatic Hodgkin lymphoma: a large series of patients staged with PET-CT
2017
// Cedric Rossi 1, 2 , Morgane Mounier 3 , Pauline Brice 4 , Violaine Safar 5 , Emmanuelle Nicolas-Virelizier 6 , Philippe Rey 6 , Aspasia Stamatoullas-Bastard 7 , Marion Alcantara 7 , Adrien Chauchet 8 , Emilie Reboursiere 9 , Lauriane Filliatre 10 , Aurore Perrot 10 , Sylvain Garciaz 11 , Gilles Salles 6 , Bertrand Coiffier 6 , Herve Ghesquieres 5, 6 and Rene-Olivier Casasnovas 1, 12 1 Hematologie Clinique, CHU Le Bocage, Dijon, France 2 INSERM UMR 1037 - Cancer Research Center of Toulouse, Toulouse, France 3 Registre des Hemopathies Malignes de Cote d’Or, EA4184, Universite de Bourgogne, Dijon, France 4 Hematologie Clinique, CHU Paris-GH St-Louis Lariboisiere F-Widal - Hopital Saint-Loui…
Epidemiological Characterization and Determination of TP53 and IGHV Mutational Status of a Large Series of Previously-Untreated Chronic Lymphocytic L…
2021
Abstract Introduction: Among the genetic lesions described in chronic lymphocytic leukemia (CLL), TP53 and IGHV mutational status are well-established prognostic biomarkers. While mutations resulting in dysregulation of TP53 are associated with chemo-resistance, mutated IGHV (IGHV-M) identifies a good prognosis and unmutated (IGHV-UM) is associated with an aggressive clinical outcome. Thus, molecular assessment of TP53 and IGHV mutational status is recommended to make treatment decisions. Moreover, 30% of CLL patients have a highly homologous complementarity-determining region 3 (CDR3), allowing their classification in subsets based on the stereotypical B-cell receptor immunoglobulins (BcR …