M A den Bakker1, C Seynaeve, M Kliffen, W N M Dinjens. 1. Departments of Pathology and Medical Oncology, Erasmus MC-Daniel den Hoed, Rotterdam, the Netherlands. m.denbakker@erasmusmc.nl
Abstract
AIMS: To describe the rare occurrence of a pleomorphic sarcoma with microsatellite instability in a patient with hereditary non-polyposis colorectal cancer (HNPCC). METHODS AND RESULTS: A soft tissue tumour was removed from the upper leg of a patient who had previously been shown to harbour a germ-line MSH-2 mutation. The tumour was analysed with immunohistochemistry and molecular methods. The morphology and immunohistochemical findings were in keeping with a pleomorphic rhabdomyosarcoma. Microsatellite instability was documented in the tumour with molecular methods and in addition loss of MSH-2 expression in the tumour cells was confirmed by immunohistochemistry. CONCLUSIONS: Although sarcomas do not form part of the HNPCC diagnostic criteria, they may occur in this mismatch repair syndrome and, moreover, may well be caused by the underlying genetic defect.
AIMS: To describe the rare occurrence of a pleomorphic sarcoma with microsatellite instability in a patient with hereditary non-polyposis colorectal cancer (HNPCC). METHODS AND RESULTS: A soft tissue tumour was removed from the upper leg of a patient who had previously been shown to harbour a germ-line MSH-2 mutation. The tumour was analysed with immunohistochemistry and molecular methods. The morphology and immunohistochemical findings were in keeping with a pleomorphic rhabdomyosarcoma. Microsatellite instability was documented in the tumour with molecular methods and in addition loss of MSH-2 expression in the tumour cells was confirmed by immunohistochemistry. CONCLUSIONS: Although sarcomas do not form part of the HNPCC diagnostic criteria, they may occur in this mismatch repair syndrome and, moreover, may well be caused by the underlying genetic defect.
Authors: Masato Yozu; Pennie Symmans; Michael Dray; Jennifer Griffin; Catherine Han; Daniel Ng; Susan Parry; Kp Wong Journal: Virchows Arch Date: 2013-01-09 Impact factor: 4.064
Authors: Aung Ko Win; Noralane M Lindor; Joanne P Young; Finlay A Macrae; Graeme P Young; Elizabeth Williamson; Susan Parry; Jack Goldblatt; Lara Lipton; Ingrid Winship; Barbara Leggett; Katherine M Tucker; Graham G Giles; Daniel D Buchanan; Mark Clendenning; Christophe Rosty; Julie Arnold; A Joan Levine; Robert W Haile; Steven Gallinger; Loïc Le Marchand; Polly A Newcomb; John L Hopper; Mark A Jenkins Journal: J Natl Cancer Inst Date: 2012-08-28 Impact factor: 13.506
Authors: E Urso; M Agostini; S Pucciarelli; C Bedin; E D'angelo; C Mescoli; A Viel; I Maretto; I Mammi; D Nitti Journal: Mol Biol Rep Date: 2012-07-11 Impact factor: 2.316
Authors: Rein P Stulp; Johanna C Herkert; Arend Karrenbeld; Bart Mol; Yvonne J Vos; Rolf H Sijmons Journal: Hered Cancer Clin Pract Date: 2008-02-15 Impact factor: 2.857