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- DHPLC, denaturing high performance liquid chromatography
- HNPCC, hereditary non-polyposis colorectal cancer
- MLPA, multiplex ligation-dependent probe amplification
- MMR, mismatch repair
- MSI-H, high microsatellite instability
- MTS, Muir-Torre syndrome
- PTT, protein truncation test
- SSCP, single strand conformation polymorphism
- genotype-phenotype correlation
- germline mutations
- hereditary non-polyposis colorectal cancer
- Muir-Torre syndrome
Muir-Torre syndrome (MTS; MIM 158320) is an autosomal dominant predisposition to skin tumours and various internal malignancies. Clinical criteria for a diagnosis of MTS are the synchronous or metachronous occurrence of at least one sebaceous gland neoplasia and at least one internal neoplasm in a patient (regardless of the family history).1,2 The sebaceous gland neoplasias comprise adenomas, epitheliomas (sebaceomas), and carcinomas. In contrast, the frequent sebaceous gland hyperplasia is not indicative of MTS.2,3 According to Schwartz and Torre,2 the sebaceous neoplasias precede the internal neoplasias or are concurrent with them in 41% of MTS patients. As sebaceous gland neoplasias are rare, MTS should always be suspected when a sebaceous tumour has been diagnosed. Cystic sebaceous neoplasia is probably the most sensitive marker for this tumour predisposition syndrome.2,4–6 Colorectal cancer is by far the most common internal malignancy in MTS patients.7 The spectrum of internal malignancies in MTS is similar to the various tumour entities observed in hereditary non-polyposis colorectal cancer (HNPCC; MIM 114500). HNPCC is an autosomal dominant cancer predisposition syndrome characterised by early onset of colorectal cancer and other associated tumours.8,9 Several genes underlying HNPCC which are involved in DNA mismatch repair (MMR) have been identified within the last decade.10–13 Germline mutations in the DNA MMR genes were detected in a high proportion of MTS patients, demonstrating that MTS most often represents a phenotypic variant of HNPCC.14,15 Due to the underlying genetic mechanisms of tumourigenesis, tumours of these MTS patients exhibit high microsatellite instability (MSI-H), the characteristic feature of HNPCC tumours.16 Microsatellite analysis in tumour tissue of MTS patients therefore provides a useful tool to pre-select patients for mutation analysis in DNA MMR genes.3 Immunohistochemical testing for expression of the MSH2 and …
This work was supported by the Deutsche Krebshilfe (Grant 70–3027 Ma 1) and the Deutsche Forschungsgemeinschaft (Grant KR 1620/3−1 and−2).
Conflict of interest: none declared.