title: Analysis of the IgV(H) somatic mutations in splenic marginal zone lymphoma defines a group of unmutated cases with frequent 7q deletion and adverse clinical course.
abstract: This study aimed to correlate the frequency of somatic mutations in the IgV(H) gene and the use of specific segments in the V(H) repertoire with the clinical and characteristic features of a series of 35 cases of splenic marginal zone lymphoma (SMZL). The cases were studied by seminested polymerase chain reaction by using primers from the FR1 and J(H) region. The results showed unexpected molecular heterogeneity in this entity, with 49% unmutated cases (less than 2% somatic mutations). The 7q31 deletions and a shorter overall survival were more frequent in this group. Additionally a high percentage (18 of 40 sequences) of SMZL cases showed usage of the V(H)1-2 segment, thereby emphasizing the singularity of this neoplasia, suggesting that this tumor derives from a highly selected B-cell population and encouraging the search for specific antigens that are pathogenically relevant in the genesis or progression of this tumor.
authors.affiliation: Department of Genetics and Pathology, Virgen de la Salud Hospital, Toledo, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Algara
authors.forename: Marisol S
authors.initials: MS
authors.lastname: Mateo
authors.forename: Margarita
authors.initials: M
authors.lastname: Sanchez-Beato
authors.forename: Manuela
authors.initials: M
authors.lastname: Mollejo
authors.forename: Immaculada C
authors.initials: IC
authors.lastname: Navas
authors.forename: Lourdes
authors.initials: L
authors.lastname: Romero
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.forename: Marta
authors.initials: M
authors.lastname: Salido
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
authors.forename: Pedro
authors.initials: P
authors.lastname: Martínez
authors.forename: Elias
authors.initials: E
authors.lastname: Campo
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Piris
mesh_terms: D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005500:Follow-Up Studies; D005803:Genes, Immunoglobulin / Q000235:genetics*; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D007135:Immunoglobulin Variable Region / Q000235:genetics; D007621:Karyotyping; D016393:Lymphoma, B-Cell / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D013160:Splenic Neoplasms / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D015996:Survival Rate
chemical_list: D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region