Ott M M, Ott G, Klinker H, Trunk M J, Katzenberger T, Müller-Hermelink H K
Institute of Pathology, University of Würzburg, Germany.
Am J Surg Pathol. 1998 Apr;22(4):500-6. doi: 10.1097/00000478-199804000-00017.
A 28-year-old man presented with selective immunoglobulin A deficiency and severe diarrhea responding to a gliadin-free diet. Biopsy samples of the small intestine showed dense T-cell infiltrations in the lamina propria and a slight increase of intraepithelial T-lymphocytes. No clonal rearrangement of the T-cell receptor c-beta chain genes was detectable by Southern blotting. Four years later, at the age of 32, the patient was hospitalized again with liver failure, abdominal lymphadenopathy, pancytopenia, and recurrent bacterial infections. Retrospective polymerase chain reaction analysis of formalin-fixed tissues of the intestinal biopsy samples obtained 4 years earlier showed monoclonal T-cell receptor gamma-chain gene rearrangement. Lymphoid cells of the peripheral blood showed an immunophenotype of CD3-positive gamma/delta T cells with a negativity for CD4 and CD8. A clonally rearranged T-cell receptor delta chain gene and a germline configuration of the c-beta chain genes was found by Southern blotting. Cytogenetics showed an abnormal karyotype with unbalanced translocations t(1;5) and t(9;13). The patient died of extensive lung infiltrations by gamma/delta T cells; autopsy showed a peripheral T-cell lymphoma of the gamma/delta type in the enlarged abdominal lymph nodes. This is the first report of an abdominal T-cell lymphoma of the gamma/delta type in a patient with selective immunoglobulin A deficiency.
一名28岁男性，表现为选择性免疫球蛋白A缺乏症，并伴有对无麦醇溶蛋白饮食有反应的严重腹泻。小肠活检样本显示固有层有密集的T细胞浸润，上皮内T淋巴细胞略有增加。Southern印迹法未检测到T细胞受体c-β链基因的克隆重排。4年后，患者32岁时因肝功能衰竭、腹部淋巴结病、全血细胞减少和反复细菌感染再次住院。对4年前获得的肠道活检样本的福尔马林固定组织进行回顾性聚合酶链反应分析，显示单克隆T细胞受体γ链基因重排。外周血淋巴细胞显示为CD3阳性γ/δT细胞免疫表型，CD4和CD8呈阴性。Southern印迹法发现克隆性重排的T细胞受体δ链基因和c-β链基因的种系构型。细胞遗传学显示核型异常，存在不平衡易位t(1;5)和t(9;13)。患者死于γ/δT细胞广泛浸润肺部；尸检显示肿大的腹部淋巴结中有γ/δ型外周T细胞淋巴瘤。这是首例关于选择性免疫球蛋白A缺乏症患者发生γ/δ型腹部T细胞淋巴瘤的报告。
