title: Epstein-Barr virus-positive T-cell lymphoma cells having chromosome 22q11.2 deletion: an autopsy report of DiGeorge syndrome.
abstract: Reported herein was the first autopsy case of Epstein-Barr virus-associated T-cell lymphoma in a 25-year-old man with DiGeorge syndrome. Systemic lymph nodes demonstrated diffuse encasement by large lymphoma cells positive for CD45, CD2, CD3, CD5, CD7, CD8, TIA1, and granzyme B, accompanied with marked hemophagocytosis. Almost 100% of lymphoma cells were both EBER- and LMP-1-positive, and EBNA2-negative. The rearrangement of T-cell receptor β gene was proved by polymerase chain reaction. Clinical and pathologic features coincided with Epstein-Barr virus-associated T/NK-cell lymphoproliferative disorder preceded by chronic active Epstein-Barr virus infection. A fluorescence in situ hybridization using paraffin-embedded tissues demonstrated a mosaic chromosome 22q11.2 deletion with both host cardiac myocytes and lymphoma cells, suggesting that Epstein-Barr virus-associated T-cell lymphoma was associated with and derived from the cells carrying the chromosomal abnormality. Furthermore, the lymphomagenesis of our case correlated with defect of cellular immunity in DiGeorge syndrome.
authors.affiliation: Department of Pathology, Tohoku University Hospital, Sendai 980-8574, Japan. sig-itoh@umin.ac.jp
authors.forename: Shigemi
authors.initials: S
authors.lastname: Itoh
authors.forename: Tadayuki
authors.initials: T
authors.lastname: Ohno
authors.forename: Shuhei
authors.initials: S
authors.lastname: Kakizaki
authors.forename: Ryo
authors.initials: R
authors.lastname: Ichinohasama
mesh_terms: D000328:Adult; D001344:Autopsy; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics / Q000276:immunology; D020031:Epstein-Barr Virus Infections / Q000150:complications* / Q000473:pathology; D017809:Fatal Outcome; D015333:Gene Rearrangement, beta-Chain T-Cell Antigen Receptor / Q000235:genetics; D004854:Herpesvirus 4, Human / Q000502:physiology; D006801:Humans; D007111:Immunity, Cellular; D017404:In Situ Hybridization, Fluorescence; D007694:Killer Cells, Natural / Q000821:virology; D008198:Lymph Nodes / Q000276:immunology / Q000473:pathology; D016399:Lymphoma, T-Cell / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000821:virology; D008297:Male; D032383:Myocytes, Cardiac / Q000821:virology; D016612:Paraffin Embedding; D017384:Sequence Deletion; D013601:T-Lymphocytes / Q000821:virology