Department of Pathology, Tohoku University Hospital, Sendai 980-8574, Japan.
Hum Pathol. 2011 Dec;42(12):2037-41. doi: 10.1016/j.humpath.2010.03.014. Epub 2011 Jun 17.
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.
本文报道了一例 25 岁 DiGeorge 综合征患者的 EBV 相关 T 细胞淋巴瘤首例尸检病例。全身淋巴结可见大淋巴瘤细胞弥漫性包裹，这些细胞 CD45、CD2、CD3、CD5、CD7、CD8、TIA1 和颗粒酶 B 阳性，并伴有明显的噬血现象。几乎 100%的淋巴瘤细胞均 EBER 和 LMP-1 阳性，而 EBNA2 阴性。聚合酶链反应证明 T 细胞受体 β 基因重排。临床和病理特征与慢性活动性 EBV 感染后发生的 EBV 相关 T/NK 细胞淋巴增生性疾病一致。使用石蜡包埋组织的荧光原位杂交显示 22q11.2 号染色体镶嵌缺失，同时存在宿主心肌细胞和淋巴瘤细胞，提示 EBV 相关 T 细胞淋巴瘤与携带染色体异常的细胞相关，并来源于这些细胞。此外，本病例的淋巴瘤发生与 DiGeorge 综合征中的细胞免疫缺陷有关。
