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Malignant rhabdoid tumor of the colon

Report of a case with molecular analysis

  • Case Reports
  • Published:
Diseases of the Colon & Rectum

Abstract

PURPOSE: Malignant rhabdoid tumors 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.

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Read at the meeting of the Canadian Association of Pathologist in conjunction with the meeting of the Royal College of Physicians and Surgeons of Canada, Montreal, Quebec, Canada, September 13 to 17, 1995.

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Marcus, V.A., Viloria, J., Owen, D. et al. Malignant rhabdoid tumor of the colon. Dis Colon Rectum 39, 1322–1326 (1996). https://doi.org/10.1007/BF02055131

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