Muir-Torre syndrome: a case of unusual coexisting genetic mutations.

Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS.

[Muir-Torre syndrome].

Muir-Torre syndrome (MTS) is an autosomal dominant disease with approximately 200 reported cases worldwide, which is characterised by multiple neoplasms of the skin and internal organs. This is a case report of a 57-year-old woman with MTS, who was referred to a plastic surgery department from a gastroenterology department due to a neoplasm of the skin. After treatment, she was referred to a dermatology department for follow-up. MTS is a rare disease, which is now reported in Denmark. Doctors treating any of the composing elements should have basic knowledge of the condition in order to refer patients appropriately.

Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome.

This article reports an unusual case of aggressive extraocular sebaceous carcinoma located on the scalp with subsequent usurpation of the bone and penetrating through the bone and meninges to the brain in a 56-year-old man affected by Muir-Torre syndrome. Microscopically, the sebaceous neoplasm was located in the middle to deep dermis without any connection to the epidermis and showed a multinodular growth with neoplastic nodules with a central comedo-type necrosis separated from each other by fibrovascular stroma. The nodules were composed of varying proportions of mature sebaceous cells and atypical basaloid cells with high degree of atypia, including high nuclear/cytoplasmic ratio, nuclear pleomorphism, macronucleoli, atypical mitoses, and necrosis. The neoplasm was totally removed. Histopathological examinations of the recurrent lesion showed identical morphological features and, in addition, signs of the tumors growing through the periosteum were noted. In the final excision specimen, both the dura mater and the brain tissue were infiltrated by the sebaceous carcinoma. The diagnosis of Muir-Torre syndrome was confirmed by molecular genetic investigation that revealed an identical germline mutation in MSH2 gene in several family members, some of whom had colorectal tumors.

Muir-Torre Syndrome in a Middle-Aged Chinese Patient with Sebaceous Carcinoma of the Eyelid.

Muir-Torre syndrome is a rare, autosomal dominant condition characterized by the presence of a skin tumor of sebaceous differentiation and visceral malignancies. We reviewed the case of a 46-year-old Chinese man who had a bleeding mass over the right upper eyelid. He had a history of colon cancer and a family history satisfying the Amsterdam criteria for hereditary non-polyposis colorectal cancer syndrome with germline mutation in the MutS homolog-2 gene. The eyelid lesion was excised completely and submitted for histopathologic examination which showed sebaceous carcinoma. Frozen section and conjunctival map biopsy showed no residual malignancy or local metastasis. Post-operative positron-emission tomography with combined computed tomography did not reveal any residual or visceral malignancy. He had no recurrence in the 32-month follow-up period. We should consider Muir-Torre syndrome in patients with sebaceous carcinoma, especially in the presence of personal and/or family history of visceral malignancies.

[Sebaceous gland tumor with a rare gene mutation within a tumor syndrome: Muir-Torre syndrome]. / Talgdrüsenkarzinom mit seltener Genmutation im Rahmen eines Tumorsyndroms: Muir-Torre-Syndrom.

Muir-Torre syndrome is a rare autosomal dominant subtype of hereditary nonpolyposis colorectal carcinoma and is characterized by the simultaneous occurrence of sebaceous gland neoplasms with visceral and urogenital malignancies. This article describes the case of a 72-year-old patient who was referred to our clinic for removal of an upper eyelid tumor, showing the course from the clinical findings to the rare diagnosis of Muir-Torre syndrome.

Muir-Torre syndrome: a case report and review of the literature.

Muir-Torre syndrome is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasm associated with visceral malignancies. Most patients present with sebaceous adenomas, but cystic sebaceous neoplasms have been reported as specific markers of the syndrome. Gastrointestinal and genitourinary cancers are the most common internal malignancies. Colorectal cancer is the commonest visceral neoplasm in Muir-Torre syndrome patients. In this case report, we describe a rare case of Muir-Torre syndrome associated with colon cancer, and we demonstrate the important role of the dermatopathologist in alerting the clinician to the possibility of Muir-Torre syndrome when the diagnosis of sebaceous neoplasm is made.

Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome.

This is the first reported case of a sebaceous adenoma arising within an ovarian mature cystic teratoma in a patient with Muir-Torre syndrome. The pathologic findings and a literature review are presented, including the importance and possible benefits of an early diagnosis of Muir-Torre syndrome. It is proposed that the presence of a sebaceous adenoma in an ovarian cystic teratoma may serve as a useful trigger to consider further history and investigations, with the goal of identifying an important genetic cancer predisposition syndrome.

Glioblastoma multiforme in the Muir-Torre syndrome.

Muir-Torre syndrome (MTS) is an autosomal dominant subtype of nonpolyposis colorectal carcinoma (HNPCC) characterized by the development of sebaceous gland tumors and visceral malignancies. The most common subtype of MTS is characterized by germline mutations in mismatch repair (MMR) genes leading to microsatellite instability (MSI). Central nervous system tumors have only rarely been associated with MTS. In this report, we describe the development of a glioblastoma multiforme (GBM) in a patient with MTS. Immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6).

[Female patient with Muir-Torre syndrome]. / Patientin mit Muir-Torre-Syndrom.

Muir-Torre syndrome is a rare form of genodermatosis characterized by sebaceous tumours or keratocanthoma and early occurrence of intestinal malignancies. In addition to the patient history immunohistochemical and genetic analysis for microsatellite instability and reduced expression of the mismatch repair gene MSH2 and MLH1 can be used to confirm the diagnosis. Because of this important association, Muir-Torre syndrome should be excluded if a patient presents with a sebaceous tumour.

Muir-Torre syndrome associated with endometrial carcinoma.

Muir-Torre syndrome (MTS) is an autosomaldominant skin condition of genetic origin, characterized by tumors of the sebaceous glands or keratoacanthomas that are associated with malignant visceral diseases. MTS associated with gynecologic malignancy has rarely been reported. Here we report a woman with no family history of colorectal cancer who developed endometrial carcinoma, stage 3a, at 49 years of age and at age 51 years, developed two skin tumors, a nasal squamous cell carcinoma and a sebaceous carcinoma of the right eyelid. The appearance pattern of these skin tumors suggested MTS. Although MTS associated with endometrial carcinoma is rare, patients with endometrial carcinoma should undergo evaluation for visceral malignancies (mainly colon cancer) and sebaceous skin lesions, regardless of whether or not there is a family history of colorectal cancer.