title: Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.
abstract: Selected viruses and immune parameters were monitored in 57 patients with Nijmegen breakage syndrome as a proposed tool for early detection of changes preceding development of malignancy. The following parameters were analysed: (1) viral infections; (2) monoclonal proteins; and (3) B-cell and T-cell receptor gene rearrangements in peripheral blood lymphocytes. Viral infections were detected in 68.4% of patients with a predominance of EBV (63.2%), followed by HBV (19.2%) and HCV (8.8%). Monoclonal gammopathy detected in 38.6% of cases correlated with the presence of EBV DNA (p=0.002) and HCV RNA (p=0.04). Clonal Ig and/or TCR gene rearrangements occurred in 73.9% of patients. The presence of at least one of the studied parameters preceded the development of malignancy in 22 patients. Systematic PCR analysis for viral infections and Ig/TCR gene rearrangements, supplemented by detection of monoclonal proteins, is advantageous in monitoring NBS patients before severe complications of the disease, including cancer, appear.
authors.affiliation: Department of Microbiology and Clinical Immunology, The Children's Memorial Health Institute, 04-740 Warsaw, Poland. h.gregorek@czd.pl
authors.forename: Hanna
authors.initials: H
authors.lastname: Gregorek
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Dzierzanowska-Fangrat
authors.forename: Anna
authors.initials: A
authors.lastname: Wakulińska
authors.forename: Barbara
authors.initials: B
authors.lastname: Pietrucha
authors.forename: Anna
authors.initials: A
authors.lastname: Zapaśnik
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zborowska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Pac
authors.forename: Dominika
authors.initials: D
authors.lastname: Smółka-Afifi
authors.forename: Beata
authors.initials: B
authors.lastname: Kasztelewicz
authors.forename: Dorota
authors.initials: D
authors.lastname: Piekutowska-Abramczuk
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Małdyk
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000032:analysis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D015322:Gene Rearrangement, B-Lymphocyte; D015329:Gene Rearrangement, T-Lymphocyte; D019337:Hematologic Neoplasms / Q000453:epidemiology / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D049932:Nijmegen Breakage Syndrome / Q000097:blood / Q000276:immunology* / Q000821:virology*; D010265:Paraproteinemias; D011947:Receptors, Antigen, B-Cell / Q000235:genetics; D011948:Receptors, Antigen, T-Cell / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016176:T-Lymphocyte Subsets / Q000276:immunology; D014777:Virus Diseases / Q000150:complications / Q000453:epidemiology*; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; D011947:Receptors, Antigen, B-Cell; D011948:Receptors, Antigen, T-Cell