Barnoud R, Delattre O, Péoc'h M, Pasquier D, Plantaz D, Leroux D, Pasquier B
Département de Pathologie, Centre Hospitalier Universitaire, Grenoble, France.
Pathol Res Pract. 1998;194(10):693-700. doi: 10.1016/S0344-0338(98)80128-3.
Desmoplastic small round cell tumor is an aggressive neoplasm first described in 1991. Recently, a reciprocal translocation t(11;22)(p13;q12) has been characterized by conventional cytogenetic studies and molecular analysis. This translocation involves the Ewing's sarcoma gene on chromosome 22 and the Wilms' tumor gene WT1 on chromosome 11. The chimeric transcript corresponding to the fusion gene could be detected by the reverse transcriptase-polymerase chain reaction (RT-PCR). Using an anti-WT1 antibody, the WT1 part of the putative chimeric protein could be recognized by immunohistochemistry. We describe two well-characterized cases of intraabdominal desmoplastic small round cell tumor in two male patients aged 14 and 28 with both RT-PCR analysis and immunostaining for WT1. In this report, we insist on the necessity to increase the RT-PCR analysis in DSRCT in order to obtain a precise differential diagnosis. In addition, WT1 immunostaining may serve as a useful diagnostic marker for DSRCT.
促结缔组织增生性小圆细胞肿瘤是一种侵袭性肿瘤，于1991年首次被描述。最近，通过传统细胞遗传学研究和分子分析确定了一种相互易位t(11;22)(p13;q12)。这种易位涉及22号染色体上的尤文肉瘤基因和11号染色体上的威尔姆斯瘤基因WT1。通过逆转录聚合酶链反应（RT-PCR）可以检测到与融合基因相对应的嵌合转录本。使用抗WT1抗体，通过免疫组织化学可以识别推定嵌合蛋白的WT1部分。我们描述了两例特征明确的腹腔内促结缔组织增生性小圆细胞肿瘤病例，分别为两名年龄14岁和28岁的男性患者，同时进行了RT-PCR分析和WT1免疫染色。在本报告中，我们强调在促结缔组织增生性小圆细胞肿瘤中增加RT-PCR分析以获得精确鉴别诊断的必要性。此外，WT1免疫染色可作为促结缔组织增生性小圆细胞肿瘤的有用诊断标志物。
