de Mascarel Antoine, Belleannée Geneviève, Stanislas Sophie, Merlio Christine, Parrens Marie, Laharie David, Dubus Pierre, Merlio Jean-Philippe
Department of Pathology, CHU de Bordeaux, Hôpital Haut-Lévêque, 33604 Pessac. EA2406 Histology and Pathology, University of Bordeaux 2, 33076 Bordeaux, France.
Am J Surg Pathol. 2008 May;32(5):744-51. doi: 10.1097/PAS.0b013e318159b478.
Celiac disease (CD) is characterized by villous atrophy and an increase in intraepithelial lymphocytes (IEL). The IEL usually exhibit a suppressor/cytotoxic phenotype (CD3 and CD8) and display a polyclonal profile for T-cell receptor (TCR) rearrangement as opposed to the monoclonality of refractory CD (RCD) with CD8 IEL. A complication of CD is the loss of response to a gluten-free diet called RCD that may progress to an enteropathy-associated T-cell lymphoma. We reviewed 20 uncomplicated CD and 23 complicated CD (19 RCD and 4 diagnosed at the same time as enteropathy-associated T-cell lymphoma). In complicated CD, the IEL phenotype was CD8 in 9 cases and CD8 in 14 cases. In 100% of cases, IEL showed a monoclonal TCR rearrangement. All the 9 CD8 complicated CD exhibited a monoclonal TCR rearrangement and 3 of them were associated with a T-cell lymphoma (2 at the same time as CD and 1 after 43-mo follow-up) and bore the same monoclonal rearrangement in IEL and in lymphoma. Interestingly, the 13 cases (100%) of CD with a CD8 phenotype were also found monoclonal and 2 of them were associated with a T-cell lymphoma diagnosed at the same time as CD and exhibiting the same rearrangement in IEL and in lymphoma. An aberrant CD3 CD8 IEL phenotype is a good criterion for RCD diagnosis. However, cases with a normal CD3 CD8 IEL phenotype may correspond to RCD. In such cases, we suggest that molecular analysis of TCR-gamma genes is a useful method for identifying cases with RCD.
乳糜泻（CD）的特征是绒毛萎缩和上皮内淋巴细胞（IEL）增多。IEL通常表现出抑制/细胞毒性表型（CD3和CD8），并且在T细胞受体（TCR）重排方面显示多克隆谱，这与伴有CD8 IEL的难治性CD（RCD）的单克隆性相反。CD的一种并发症是对无麸质饮食失去反应，即所谓的RCD，其可能进展为肠病相关T细胞淋巴瘤。我们回顾了20例非复杂性CD和23例复杂性CD（19例RCD和4例与肠病相关T细胞淋巴瘤同时诊断）。在复杂性CD中，IEL表型9例为CD8，14例为CD8。在100%的病例中，IEL显示单克隆TCR重排。所有9例CD8复杂性CD均表现出单克隆TCR重排，其中3例与T细胞淋巴瘤相关（2例与CD同时发生，1例在43个月随访后发生），并且在IEL和淋巴瘤中具有相同的单克隆重排。有趣的是，13例（100%）具有CD8表型的CD病例也被发现为单克隆，其中2例与CD同时诊断的T细胞淋巴瘤相关，并且在IEL和淋巴瘤中表现出相同的重排。异常的CD3 CD8 IEL表型是RCD诊断的良好标准。然而，具有正常CD3 CD8 IEL表型的病例可能对应于RCD。在这种情况下，我们建议对TCR-γ基因进行分子分析是识别RCD病例的有用方法。
