Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

Sarcomas, including the malignant fibrous histiocytomas (MFHs), are not kno wn to be part of the tumour spectrum of hereditary non-polyposis colorectal cancer (HNPCC) as epidemiologically established. Therefore, occurrence of MFH in an HNPCC family may very well be coincidental. HNPCC is associated w ith germline mutations in DNA mismatch repair genes, including the MSH2 gen e. We analysed an MFH diagnosed in a 45-year-old male HNPCC patient carryin g a germline MSH2 mutation for HNPCC-associated molecular characteristics, to investigate a possible relationship between the tumour and that mutation . DNA analysis revealed microsatellite instability and loss of one MSH2 cop y, and immunohistochemistry showed absence of nuclear MSH2 protein staining . To investigate whether this is a common finding in MFH, microsatellite in stability and nuclear MSH2 protein staining was tested for in 5 and 6 spora dic MFHs, respectively. None showed microsatellite instability and all stai ned positively for MSH2. Together, these findings show that in rare cases, MFH may be part of the HNPCC tumour spectrum. (C) 2000 Wiley-Liss, Inc.