title: B-cell repertoire and clonal analysis in unaffected first degree relatives in familial chronic lymphocytic leukaemia kindred.
abstract: Monoclonal B cell lymphocytosis (MBL) was detected in four unaffected first-degree relatives (FDR) in a familial chronic lymphocytic leukaemia (CLL) kindred. The proband remains untreated and two male siblings have died. The four unaffected siblings have been followed for a five-year period. All four FDR developed a kappa(+)CD5(+) MBL detected by flow cytometry. Poymerase chain reaction (PCR) for IGHV rearrangement showed evidence of oligoclonality in three of these individuals. Single cell PCR of flow cytometric sorted kappa(+) cells combined with Ig kappa light chain gene sequencing revealed further evidence of monoclonality in two of these individuals. Three of these individuals all showed evidence of hyper-somatic mutations. The B-cell repertoire in unaffected FDR in familial CLL offers a new area to investigate the interface between the immune system and lymphoid neoplasm.
authors.affiliation: Center for Biologics Evaluation and Research, US Food and Drug Administration, NIH, Bethesda, MD, USA.
authors.forename: Fatima
authors.initials: F
authors.lastname: Abbasi
authors.forename: Nancy S
authors.initials: NS
authors.lastname: Longo
authors.forename: Peter E
authors.initials: PE
authors.lastname: Lipsky
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Raveche
authors.forename: Therese A
authors.initials: TA
authors.lastname: Schleinitz
authors.forename: Maryalice
authors.initials: M
authors.lastname: Stetler-Stevenson
authors.forename: Neil
authors.initials: N
authors.lastname: Caporaso
authors.forename: Gerald
authors.initials: G
authors.lastname: Marti
mesh_terms: D001402:B-Lymphocytes; D018956:CD5 Antigens / Q000097:blood; D005260:Female; D005434:Flow Cytometry / Q000379:methods; D005500:Follow-Up Studies; D015322:Gene Rearrangement, B-Lymphocyte; D050438:Genes, Immunoglobulin Heavy Chain; D050439:Genes, Immunoglobulin Light Chain; D020022:Genetic Predisposition to Disease; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000276:immunology; D008218:Lymphocytosis / Q000235:genetics* / Q000276:immunology; D008297:Male; D009154:Mutation; D014411:Neoplastic Stem Cells / Q000473:pathology*; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D018956:CD5 Antigens