Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome.

Department of Pathology, Royal Victoria Hospital, Montreal, Canada.
Human Pathlogy (Impact Factor: 2.77). 05/1995; 26(4):422-7.
Source: PubMed


The association between sebaceous neoplasms of the skin and visceral cancers, known as Muir-Torre syndrome, is described in three patients, including one with an extensive history of cancer in his family. The first patient, a 54-year-old man, developed multiple sebaceous adenomas, epitheliomas, and carcinomas in association with a colonic carcinoma 6 years after cardiac transplantation. Family history in this patient disclosed colon cancer in 17 relatives. The second patient was a 51-year-old man who had recurrent adenocarcinoma of the sigmoid colon, adenocarcinoma arising in Barrett's esophagus, and sebaceous epithelioma during a period of 15 years. The third patient was a 90-year-old man with a sebaceous adenoma followed 5 months later by adenocarcinoma of the sigmoid colon with liver metastases. Muir-Torre syndrome in 129 other patients published in the literature is reviewed. Although it is a rare disease, Muir-Torre syndrome requires recognition because skin lesions may be the first sign of the syndrome and this may lead to early diagnosis of associated visceral cancers. Moreover, because this syndrome appears to be inherited, family members should be screened for visceral cancer, especially colorectal adenocarcinoma.

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    • "Another patient developed an ocular sebaceous carcinoma following cardiac transplantation, and subsequently ful®lled criteria for MTS when he developed an adenocarcinoma of the colon. He also had a strong family history of colonic and uterine malignancies (Stockl et al, 1995), as did a third cardiac transplant patient who also developed multiple sebaceous neoplasms and colon cancer after the introduction of immunosuppression (Paraf et al, 1995). Cohen (1992) described a man with Hodgkin's lymphoma and a sebaceous carcinoma of the upper eyelid and in another case report, a single rapidly growing sebaceous adenoma presented in a patient with acquired immune de®ciency syndrome and Kaposi's sarcoma, but there was no history of visceral malignancy (Dover et al, 1988). "
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    ABSTRACT: Sebaceous carcinomas are rare cutaneous appendageal tumors that may occur sporadically or in association with an internal malignancy in Muir-Torre syndrome. In Muir-Torre syndrome microsatellite instability can often be demonstrated in tumor DNA as a result of an inherited mutation in one of several known mismatch repair genes; however, the role of microsatellite instability in sporadic sebaceous carcinomas has not been previously studied. In this report we describe the clinicopathologic characteristics of a series of unselected sebaceous carcinomas and examine them for the presence of microsatellite instability. Of 10 consecutive tumors identified over a 10 y period, only one was from a patient known to have Muir-Torre syndrome. Of the nine presumed sporadic cases, five were from four renal transplant recipients and four from otherwise healthy individuals. Microsatellite instability was demonstrable in three cases: in the Muir-Torre syndrome-associated tumor and in two tumors from transplant patients. Microsatellite instability was subsequently also found in a sebaceous carcinoma from a further transplant patient prospectively sought from another institution. The presence of microsatellite instability in post-transplant sebaceous carcinomas was associated with loss of expression of the mismatch repair protein hMSH2. In summary, sebaceous gland carcinomas, while characteristic of Muir-Torre syndrome, are commonly found outside this context. Among presumed sporadic cases, our data suggest they may be over-represented in immunosuppressed renal transplant recipients. The presence of microsatellite instability in transplant-associated lesions, together with loss of hMSH2 expression suggests that immunosuppression might unmask a previously silent Muir-Torre syndrome phenotype in some cases. Alternatively, there is experimental evidence to suggest that immunosuppressive drugs, most plausibly azathioprine, could select for the emergence of a mutator phenotype and thus predispose to the development of sebaceous carcinomas. The role of mismatch repair defects in other post-transplant skin malignancies remains to be established.
    Journal of Investigative Dermatology 03/2001; 116(2):246-53. DOI:10.1046/j.1523-1747.2001.01233.x · 7.22 Impact Factor
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    • "This large well-characterized kindred was originally described in a previous issue of the Journal (Green et al. 1994). As reported earlier, there are 17 affected family members diagnosed with colorectal and endometrial cancers, sebaceous gland tumors, and hematopoietic malignancies (Green et al. 1994; Paraf et al. 1995). Previous linkage studies with five polymorphic markers from the hMSH2 gene region excluded linkage to the hMSH2 locus, since LOD scores were significantly negative and family members affected with early-onset colorectal cancer did not have a common haplotype (Green et al. 1994). "
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    ABSTRACT: Muir-Torre syndrome (MTS) (McKusick 158320) is an autosomal dominant disorder characterized by the development of sebaceous gland tumors and skin cancers, including keratoacanthomas and basal cell carcinomas. Affected family members may manifest a wide spectrum of internal malignancies, which include colorectal, endometrial, urologic, and upper gastrointestinal neoplasms. Sebaceous gland tumors, which are rare in the general population, are considered to be the hallmark of MTS and may arise prior to the development of other visceral cancers. Despite the high incidence of synchronous and metachronous tumors, prognosis is often favorable. Hereditary nonpolyposis colorectal cancer (HNPCC) is one of the most common autosomal dominantly inherited colorectal cancer susceptibility syndromes. In some HNPCC families, extracolonic tumors of the endometrium, ovary, small bowel, and renal and biliary tract occur at an increased frequency. On the basis of similarities in clinical symptoms of MTS and HNPCC, it is proposed that these two syndromes may have a common genetic basis. 24 refs., 2 figs.
    The American Journal of Human Genetics 10/1996; 59(3):736-9. · 10.93 Impact Factor
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    ABSTRACT: We read with interest the paper on {open_quotes}Prevalence and Origin of De Novo Duplications in Charcot-Marie-Tooth Disease Type 1A: First Report of a De Novo Duplication with a Maternal Origin,{close_quotes}. They reported their experience with 10 sporadic cases of Charcot-Marie-Tooth type 1A (CMT1A) in which it was demonstrated that the disease had arisen as the result of a de novo duplication. They analyzed the de novo-duplication families by using microsatellite markers and identified the parental origin of the duplication in eight cases. In one family the duplication was of maternal origin, whereas in the remaining seven cases it was of paternal origin. The authors concluded that their report was the first evidence of a de novo duplication of maternal origin, suggesting that this is not a phenomenon associated solely with male meiosis. 7 refs.
    The American Journal of Human Genetics 10/1996; 59(3):739-40. · 10.93 Impact Factor
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