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

ArticleinHuman Pathlogy 26(4):422-7 · May 1995with8 Reads
Source: PubMed
Abstract
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.
    • "A skin lesion may be the first sign of the syndrome, and it has been reported that both the sebaceous tumors and the associated internal malignan- DOI 10.1007/s00417-003-0856-9 cies have a more favorable prognosis as they tend to be low-grade [7]. Although a handful of studies, mainly consisting of isolated case reports and small case series, have looked at the frequency and spectrum of tumor types associated with MTS, few studies have reported the frequency and clinical outcome of visceral malignancies in unselected patients with periocular SGC [4, 7]. In this short report, therefore, we describe the clinicopathologic characteristics , with particular reference to the existence of coexisting internal malignancies and their clinical outcome, in a consecutive series of 23 patients with histologically confirmed periocular SGC. "
    [Show abstract] [Hide abstract] ABSTRACT: To report the frequency and clinical features of internal visceral malignancy in an unselected series of patients with sebaceous gland carcinoma (SGC). A non-comparative retrospective case series of consecutive patients with a histologically proven diagnosis of periocular sebaceous cell carcinoma treated at the University Eye Hospital, University of Erlangen-Nürnberg between 1981 and 2000. Twenty-three patients were identified, each with one tumor. Men and women were almost equally affected with a mean age at diagnosis of 62 years (range 37-83 years). The majority of tumors were located in the upper lid, but five tumors were situated in the lower lid or caruncle. In 22 of the 23 patients the diagnosis at referral was either incorrect or not suspected. In all cases, the SGC was treated by surgical excision. In the systems review, 11 of the 23 patients (48%) had evidence of previous systemic malignancy, the most common being colorectal cancer followed by liver and bronchial carcinoma. Forty-five percent of patients with SGC and internal visceral malignancy eventually died as a result of their tumors. Periocular SGC remains an underdiagnosed entity for which a high level of clinical suspicion is critical for early recognition. Almost half the patients additionally had an internal visceral malignancy. Internal visceral malignancy in unselected patients with SGC may be more common and have a more guarded prognosis than has been appreciated.
    Article · Sep 2004
    • "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). "
    [Show abstract] [Hide abstract] 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.
    Full-text · Article · Mar 2001
    • "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). "
    [Show abstract] [Hide abstract] 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.
    Full-text · Article · Oct 1996
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