title: T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome.
abstract: Nijmegen breakage syndrome (NBS) is a rare autosomal-recessive disorder characterized by microcephaly, immunodeficiency and predisposition to cancer, mainly B-cell lymphomas. Our 10-years-old female patient with NBS developed T-cell lymphoblastic leukemia/lymphoma (TLBL/ALL). The use of standard chemotherapy in our patient, except for cranial irradiation, led to complete and sustained remission of TLBL/ALL. In patients with chromosomal instability syndromes chemotherapy must be modified and radiotherapy must be omitted because of potentially serious toxic complications. Careful prevention of infections, including the use of intravenous immunoglobulin is also essential for successful treatment of lymphoid malignancies in NBS. Immunodeficiency in NBS is profound affecting both humoral and cellular immune system. During long-term follow-up after treatment of malignancy our patient remained free of major infections However, the rise of oligoclonal serum IgM was detected recently. Monitoring of serum IgM concentration may be a useful indicator for early detection of lymphomas in NBS.
authors.affiliation: Department of Pediatric Immunology, Mother and Child Health Institute, Belgrade, Serbia and Montenegro. bg.pasic@eunet.yu
authors.forename: Srdjan
authors.initials: S
authors.lastname: Pasic
authors.forename: Dragana
authors.initials: D
authors.lastname: Vujic
authors.forename: Maurilia
authors.initials: M
authors.lastname: Fiorini
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000293:Adolescent; D019496:Cancer Vaccines; D005260:Female; D006801:Humans; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000097:blood / Q000150:complications* / Q000276:immunology; D016399:Lymphoma, T-Cell / Q000097:blood / Q000150:complications* / Q000276:immunology; D049932:Nijmegen Breakage Syndrome / Q000150:complications*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000097:blood / Q000150:complications* / Q000276:immunology; D016896:Treatment Outcome
chemical_list: D019496:Cancer Vaccines