1. Immunoglobulin heavy chain V-D-J gene rearrangement and mutational status in Uruguayan patients with chronic lymphocytic leukemia
- Author
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Guillermo Dighiero, Sergio Bianchi, Hugo Naya, Pilar Moreno, Raul Gabus, Ana Inés Landoni, Otto Pritsch, Pablo Oppezzo, Institut Pasteur de Montevideo, Réseau International des Instituts Pasteur ( RIIP ) -Institut Pasteur de Montevideo, Departamento de Fisiopatología, Universidad de la República-Hospital de Clinicas, Servicio de Hematología, Hospital Maciel, Departamento de Inmunobiología, and Universidad de la República-Facultad de Medicina
- Subjects
Male ,Cancer Research ,Chronic lymphocytic leukemia ,DNA Mutational Analysis ,MESH : Aged ,Gene Rearrangement, B-Lymphocyte, Heavy Chain ,Immunoglobulin Variable Region ,[ SDV.CAN ] Life Sciences [q-bio]/Cancer ,Gene Frequency ,hemic and lymphatic diseases ,MESH : Female ,MESH : Gene Frequency ,MESH : Immunoglobulin Variable Region ,MESH : Uruguay ,Phylogeny ,Genetics ,education.field_of_study ,Geography ,Incidence (epidemiology) ,MESH : Geography ,Hematology ,MESH : Adult ,MESH : Leukemia, Lymphocytic, Chronic, B-Cell ,Middle Aged ,Oncology ,Chronic leukemia ,Female ,MESH : Mutation ,IGHV@ ,Adult ,MESH : Male ,Genes, Immunoglobulin Heavy Chain ,Population ,MESH : Genes, Immunoglobulin Heavy Chain ,MESH : DNA Mutational Analysis ,Biology ,MESH : Gene Rearrangement, B-Lymphocyte, Heavy Chain ,medicine ,Humans ,MESH : Middle Aged ,education ,Gene ,Aged ,MESH : Humans ,MESH : Phylogeny ,Gene rearrangement ,medicine.disease ,Leukemia, Lymphocytic, Chronic, B-Cell ,Immunology ,Mutation ,Immunoglobulin heavy chain ,Uruguay ,[ SDV.GEN ] Life Sciences [q-bio]/Genetics - Abstract
International audience; B-cell chronic lymphocytic leukemia (CLL) is characterized by the accumulation of long-lived circulating clonal leukemic B-cells, although the etiopathogenesis remains unclear. The incidence of CLL is variable in different regions around the world. While it is the most frequent chronic leukemia in Western countries, it has a low incidence in Asia. In this work we have investigated the immunoglobulin heavy chain gene rearrangements and mutational status in 80 Uruguayan patients with CLL, and compared these results with those obtained in other geographic regions. Our results demonstrate that Uruguayan patients with CLL display an IGHV gene usage which resembles that observed in Mediterranean countries and exhibits certain differences compared with Brazilian and Asian series, as expected, considering the ethnic basis of the Uruguayan population. This suggests that genetic influences could be important in the development and etiopathogenesis of CLL, but larger studies are necessary to substantiate this possibility.
- Published
- 2010
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