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.
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.
Authors: I Nakamura; K Nakano; K Nakayama; Y Ishii; K Ohta; M Takahashi; T Yamada; K Yamaguchi; H Sakuma; A Tsuchiya; S Takenoshita Journal: Surg Today Date: 1999 Impact factor: 2.549
Authors: Francesco D'Amico; Alessandra Bertacco; Maurizio Cesari; Claudia Mescoli; Giorgio Caturegli; Gabriel Gondolesi; Umberto Cillo Journal: J Med Case Rep Date: 2018-02-17