Ileocecal Adenocarcinoma and Ureteral Transitional Cell Carcinoma with Multiple Sebaceous Tumors and Keratoacanthomas in a Case of Muir-Torre Syndrome
نویسندگان
چکیده
Cutaneous neoplasms including sebaceous tumors, keratoacanthomas, and basal cell carcinomas with sebaceous differentiation can be markers of internal malignancy associated with the Muir-Torre Syndrome (MTS). We report a 56-year-old man with a diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) and ureteral transitional cell carcinoma who subsequently developed two sebaceous gland neoplasms and several keratoacanthomas, leading to the diagnosis of MTS. Our case highlights the clinical advantages of immunohistochemistry (IHC) in identifying mutations in the mismatch repair (MMR) genes responsible for both HNPCC and MTS. The importance of continued clinical suspicion in the dermatological assessment of patients with sebaceous neoplasms is emphasized.
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Muir-Torre syndrome is a rare cancer predisposition syndrome characterized by unusual cutaneous tumors and internal malignancy. The cutaneous tumors associated with Muir-Torre syndrome include mainly sebaceous gland neoplasms (sebaceous adenoma and sebaceous carcinoma), keratoacanthoma, and basal cell carcinoma. Colorectal and genitourinary carcinoma are the common types of internal malignancie...
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Muir-Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, seba...
متن کاملIdentification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.
BACKGROUND The Muir-Torre syndrome (MTS) is an autosomal-dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated with visceral malignancies. A subset of patients with MTS is considered a variant of the hereditary nonpolyposis colorectal carcinoma, which is caused by mutations in mismatch-repair genes. The objective of the cur...
متن کاملSebaceous gland tumors of the eyelids and conjunctiva in the Muir-Torre syndrome: a clinicopathologic study of five cases and literature review.
PURPOSE To study the sebaceous tumors of eyelid/conjunctiva associated with Muir-Torre syndrome (MTS) and to determine the role of immunohistochemical markers (MSH2, mismatch repair gene) in the diagnosis of patients with MTS. METHODS A retrospective, noncomparative case series of 5 patients diagnosed with MTS from our laboratory. We also reviewed all previously reported cases of sebaceous ey...
متن کاملClustering of sebaceous gland carcinoma, papillary thyroid carcinoma and breast cancer in a woman as a new cancer susceptibility disorder: a case report
INTRODUCTION Multiple distinct tumors arising in a single individual or within members of a family raise the suspicion of a genetic susceptibility disorder. CASE PRESENTATION We present the case of a 52-year-old Caucasian woman diagnosed with sebaceous gland carcinoma of the eyelid, followed several years later with subsequent diagnoses of breast cancer and papillary carcinoma of the thyroid....
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ورودعنوان ژورنال:
دوره 2010 شماره
صفحات -
تاریخ انتشار 2010