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Spectrum of genetic alterations in Muir‐Torre syndrome is the same as in HNPCC

Muir-Torre Syndrome (MTS) is a cancer predisposing syndrome in which the development of cutaneous lesions are associated to tumors belonging to the spectrum of HNPCC (colorectum, endometrium, stomach, ovary, biliary tree). The cutaneous lesions include sebaceous adenomas, epitheliomas, and carcinomas as well as basaliomas. The initial and exclusive identification ofMSH2mutations [Kolodner et al., 1994] led to the hypothesis that the specific MTS phenotype was due to the involvement of this gene [Kruse et al., 1996]. The subsequent finding of a germline MLH1 point mutation inaMTS family byBapat et al. [1996] clarified that other mismatch repair genes responsible for HNPCC, may underly MTS. To date, the spectrum of germline MSH2 and MLH1 mutations in MTS families includes missense, nonsense, or frameshift mutations [Kolodner et al., 1994; Bapat et al., 1996; Suspiro et al., 1998; Godard et al., 1999]. Here we report the firstMTS family harboring a large deletion within the MSH2 gene. This finding confirms that the spectrum of genetic alterations in MTS is similar to that of HNPCC. The family is characterized by three affected individuals within two generations (Fig. 1). In particular, the father had two metachronous colon cancers starting at 53 years, a daughter who had a colon and ovarian cancer starting at age 42, a son affected by an adenoma with a focus of carcinoma at age 47. All three affected members also presented with cutaneous lesions characteristic of MTS. Two additional sons and a daughter were unaffected. All colon cancers were tested for the presence of microsatellite instability (MSI) using BAT25 and Fig. 1. VR1 pedigree.