title: Genetic characterization of the paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia: A case report and review of the literature.
abstract: Paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL) is characterized by a diffuse proliferation of cells, called paraimmunoblasts, normally located on the pseudoproliferation centers. Patients usually present with multiple lymphadenopathies and a rapid and aggressive progression of the disease. We report a case with paraimmunoblastic variant of SLL/CLL genetically well-characterized by conventional cytogenetics, comparative genomic hybridization (CGH), IgH/BCL-1, IgH/BCL-2, and p53 fluorescent in situ hybridization (FISH) probes and polymerase chain reaction (PCR) for detection of IgH/BCL-2 translocation. A complex karyotype was found, with p53 deletion confirmed by CGH and FISH; however, no translocations involving either BCL-2 or BCL-1 and the immunoglobulin heavy chain gene were identified. A literature review shows only 20 previously reported cases, 6 of which involve genetic studies.
authors.affiliation: Laboratori de Citogenètica i Biologia Molecular, Departament de Patologia, Escola de Citologia Hematològica Soledad Woessner-IMAS, Barcelona, Spain.
authors.forename: Blanca
authors.initials: B
authors.lastname: Espinet
authors.forename: Itziar
authors.initials: I
authors.lastname: Larriba
authors.forename: Marta
authors.initials: M
authors.lastname: Salido
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
authors.forename: Soledad
authors.initials: S
authors.lastname: Woessner
authors.forename: Jordi
authors.initials: J
authors.lastname: Sans-Sabrafen
authors.forename: Carles
authors.initials: C
authors.lastname: Barranco
authors.forename: Sergi
authors.initials: S
authors.lastname: Serrano
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
mesh_terms: D000368:Aged; D002871:Chromosome Banding; D004273:DNA, Neoplasm / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction
chemical_list: D004273:DNA, Neoplasm