Malignant rhabdoid tumor of the colon - Report of a case with molecular analysis
Malignant rhabdoid tumor of the colon - Report of a case with molecular analysis
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DOI：
10.1007/bf02055131
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发表时间：
1996-11-01
影响因子：
3.9
通讯作者：
Tsao, MS
中科院分区：
文献类型：
--
作者：
Marcus, VA;Viloria, J;Tsao, MS
目的：恶性横纹肌样瘤最早在肾脏被描述为肾母细胞瘤的一种罕见的变种，具有横纹肌肉瘤样的类型，预后特别差。进一步的研究表明，这些肿瘤是一种独特的临床病理实体。随后，在不同的肾外部位发现了具有相似组织学外观的肿瘤，显示了“横纹肌样”细胞。方法：我们报告一例结肠恶性横纹肌样瘤，用特定的分子技术进行研究。结果和结论：该肿瘤在肾或肾外部位的恶性横纹肌样瘤中表现出一些不寻常的表现，包括流式细胞仪分析的异倍体和P53蛋白的核免疫组织化学染色阳性，提示存在P53基因突变。然而，DNA分析未能证明在任何ras家族基因中都存在点突变。
PURPOSE: Malignant rhabdoid rumors were first described in the kidney as a rare variant of Wilms' tumor with a ''rhabdomyosarcomatoid'' pattern and a particularly poor prognosis. Further studies have demonstrated these neoplasms as a distinct clinicopathologic entity. Subsequently, tumors with a similar histologic appearance, demonstrating the ''rhabdoid'' cells, have been found in a variety of extrarenal sites. METHODS: We report here a case of malignant rhabdoid tumor of the colon studied with selected molecular techniques. RESULTS AND CONCLUSIONS: This tumor demonstrated several unusual findings for malignant rhabdoid tumors of renal or extrarenal sites, including aneuploidy by flow cytometric analysis and a positive nuclear immunohistochemical staining for p53 protein, which suggests presence of p53 gene mutation. DNA analyses, however, failed to demonstrate the presence of point mutation in any of the ras family genes.