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Microsatellite instability in a pleomorphic rhabdomyosarcoma in a patient with hereditary non‐polyposis colorectal cancer
Author(s) -
Den Bakker M A,
Seynaeve C,
Kliffen M,
Dinjens W N M
Publication year - 2003
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1046/j.1365-2559.2003.01681.x
Subject(s) - microsatellite instability , rhabdomyosarcoma , immunohistochemistry , colorectal cancer , pathology , cancer , sarcoma , soft tissue sarcoma , medicine , dna mismatch repair , germline mutation , undifferentiated pleomorphic sarcoma , germline , mutation , biology , microsatellite , genetics , gene , allele
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.