title: [Immunoglobulin heavy chain gene rearrangements in the monoclonal gammopathies].
abstract: Plasma cell neoplasia occurs as a result of the expansion of an immunoglobulin-secreting B-cells clones, known as monoclonal component or M component. Malignant neoplasias include multiple myeloma and Waldenstrom macroglobulinemia, while premalignant conditions comprise monoclonal gammopathies of unknown significance (MGUS). MGUS present a monoclonal component with no signs of multiple myeloma, Waldenström macroglobulinemia, primary amyloidosis or other disorders. Pathological, radiological and clinical features are required for the diagnosis. Approximately 25% of patients with MGUS will become multiple myeloma, primary amiloidosis, macroglobulinemia, or other lymphoproliferative disease, which would be a premyelomatous condition. The objective of this study was to determine the clinical implications of immunophenotyping by flow cytometry and of the detection of clonality by molecular biology. A total of 32 patients were studied. Seven of them were diagnosed with multiple myeloma, and 25 with monoclonal gammopathy under study. These 32 patients were divided into four groups, based on their clinical data and flow cytometry outcome. In patients with non-diagnostic flow cytometry detection of immunoglobulin heavy chain gene rearrangements by PCR was performed, and monoclonality was found in 59% of the cases. The study of immunoglobulin heavy chain gene rearrangements by molecular biology allows a more sensitive detection of clonality.
authors.affiliation: Servicio de Patología, CEMIC, Buenos Aires, Argentina.
authors.forename: Andrea
authors.initials: A
authors.lastname: Bosaleh
authors.forename: Valeria
authors.initials: V
authors.lastname: Denninghoff
authors.forename: Alejandro
authors.initials: A
authors.lastname: Garcia
authors.forename: Carla
authors.initials: C
authors.lastname: Rescia
authors.forename: Alejandra
authors.initials: A
authors.lastname: Avagnina
authors.forename: Boris
authors.initials: B
authors.lastname: Elsner
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow / Q000473:pathology; D005260:Female; D005434:Flow Cytometry / Q000379:methods; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain / Q000235:genetics*; D006801:Humans; D016130:Immunophenotyping / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics* / Q000473:pathology; D010265:Paraproteinemias / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity