title: Detection of monoclonal IGH rearrangements in circulating cells from healthy first-degree relatives of patients with multiple myeloma.
abstract: Multiple myeloma (MM) is characterized by abnormal proliferation of clonal plasma cells or monoclonal plasmacytosis, resulting in accumulation of clonal immunoglobulins. Monoclonal gammopathy of unknown significance (MGUS) is considered a premorbid stage for developing MM. Studies have shown an increased risk of MGUS in first-degree relatives of patients with MM. Detection of immunoglobulin heavy chain gene (IGH) rearrangement provides a useful tool for assessing clonality. The aim of this study was to determine clonality in peripheral blood samples from 61 healthy first-degree relatives of MM probands by sorting circulating lymphocytes and detection of the IGH rearrangements in these cells. We detected 16 out of 61 (26.2%) relatives with monoclonal complete and incomplete IGH rearrangements; only three of them showed elevated monoclonal immunoglobulin in the serum protein electrophoresis. We conclude that this strategy is able to identify efficiently clonality in peripheral blood samples from first-degree relatives of patients with MM, who have a non-negligible risk of developing MGUS or other plasma cell dyscrasias.
authors.affiliation: División de Genética, Centro de Investigación de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
authors.forename: Herbert
authors.initials: H
authors.lastname: García-Castillo
authors.forename: Evelia
authors.initials: E
authors.lastname: Leal-Ugarte
authors.forename: Pablo César
authors.initials: PC
authors.lastname: Ortiz Lazareno
authors.forename: Esperanza
authors.initials: E
authors.lastname: Barrera-Chairez
authors.forename: Víctor Hugo
authors.initials: VH
authors.lastname: Rosales-García
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros-Núñez
mesh_terms: D051997:ADP-ribosyl Cyclase 1 / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D049109:Cell Proliferation; D002469:Cell Separation; D019075:Electrophoresis, Capillary; D005192:Family Health; D005260:Female; D005434:Flow Cytometry; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000097:blood* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008998:Monoclonal Gammopathy of Undetermined Significance / Q000276:immunology; D009101:Multiple Myeloma / Q000276:immunology*; D009360:Neoplastic Cells, Circulating; D010950:Plasma Cells / Q000166:cytology
chemical_list: D007143:Immunoglobulin Heavy Chains; D051997:ADP-ribosyl Cyclase 1