Epstein-Barr virus-positive T-cell lymphoma cells having chromosome 22q11.2 deletion: An autopsy report of DiGeorge syndrome

Shigemi Itoh, Tadayuki Ohno, Shuhei Kakizaki, Ryo Ichinohasama

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2037-2041
Number of pages5
JournalHuman Pathology
Volume42
Issue number12
DOIs
Publication statusPublished - 2011 Dec

Keywords

  • CAEBV
  • DiGeorge syndrome
  • EBV-associated T-cell lymphoma
  • FISH

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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