LETTER TO JMG

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

E Mangold¹, C Pagenstecher¹, M Leister¹, M Mathiak², A Rütten³, W Friedl¹, P Propping¹, T Ruzicka⁴, R Kruse⁴

¹ Institute of Human Genetics, University Hospital Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
² Institute of Pathology, University Hospital Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany
³ Laboratory of Dermatohistopathology, Siemensstrasse 6/1, 88048 Friedrichshafen, Germany
⁴ Department of Dermatology, University Hospital Duesseldorf, Moorenstrasse 5, 40474 Duesseldorf, Germany

Correspondence to:
Correspondence to:
Dr E Mangold
Institute of Human Genetics, University Hospital Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany; e.mangold@uni-bonn.de

Received 31 August 2003

Accepted 6 September 2003

Abbreviations: 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

Keywords: genotype-phenotype correlation; germline mutations; hereditary non-polyposis colorectal cancer; MSH2; Muir-Torre syndrome

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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