Epstein-Barr virus–independent diffuse large B-cell lymphoma in DNA ligase 4 deficiency

Computerized tomography with contrast showed bilateral nasopharyngeal masses with extensive cervical lymphadenopathy (Ann Arbor stage IIA disease). Because of radiosensitivity and cytopenias, dexamethasone, rituximab, and low-dose cyclophosphamide were given, with 1 dose of lomustine, an alkylating...

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2013-04, Vol.131 (4), p.1237-1239.e1
Main Authors: Bacon, Chris M., PhD, Wilkinson, Sarah J., MRes, Spickett, Gavin P., PhD, Barge, Dawn, PhD, Lucraft, Helen H., MD, Jackson, Graham, MD, Rand, Vikki, PhD, Gennery, Andrew R., MD
Format: Article
Language:English
Subjects:
Allergy and Immunology
Biological and medical sciences
DNA Ligase ATP
DNA Ligases - deficiency
DNA Ligases - genetics
DNA Ligases - immunology
DNA repair
Epstein-Barr virus
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Herpesvirus 4, Human
Homozygote
Humans
Immune system
Immunopathology
Infectious diseases
Lymphoma
Lymphoma, Large B-Cell, Diffuse - diagnosis
Lymphoma, Large B-Cell, Diffuse - genetics
Lymphoma, Large B-Cell, Diffuse - immunology
Lymphoma, Large B-Cell, Diffuse - pathology
Male
Medical sciences
Mutation
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Stem cells
Viral diseases
Young Adult
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Summary:Computerized tomography with contrast showed bilateral nasopharyngeal masses with extensive cervical lymphadenopathy (Ann Arbor stage IIA disease). Because of radiosensitivity and cytopenias, dexamethasone, rituximab, and low-dose cyclophosphamide were given, with 1 dose of lomustine, an alkylating nitrosourea compound. Mice lacking p53 and Lig4 or XRCC4 develop pro-B-cell lymphomas associated with RAG-induced IgH JH-c-Myc translocations.6 In mature murine B cells, deficiency in classical NHEJ is associated with a marked increase in activation-induced cytidine deaminase-induced IgH translocations, including IgH-c-Myc translocations, during class switch recombination.7 In each case, the translocations are mediated by 1 or more alternate-end joining pathways normally largely suppressed by competent classical NHEJ.7 We examined the lymphoma in this study for translocations of IG genes and the most common IG translocation partners (BCL2, BCL6, and MYC) but did not detect such events.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2012.10.027