No abstract available.
Muir-Torre Syndrome*

Muir-Torre syndrome is defined by concurrent or sequential development of internal malignancy - most commonly colorectal cancer - and sebaceous neoplasm or multiple keratoacanthomas. Recent studies revealed it was caused by mutations in DNA mismatch repair genes, and suggested screening for mismatch repair gene defects may be of value for patients with Muir-Torre syndrome. We, herein, report a patient with Muir-Torre syndrome, who developed breast cancer and extra-ocular sebaceous carcinoma. In addition, we discussed our experience of immunohistochemical staining for mismatch repair protein with a review of the literature.
Breast ; Breast Neoplasms ; Colorectal Neoplasms ; DNA Mismatch Repair ; Humans ; Keratoacanthoma ; Mass Screening ; Muir-Torre Syndrome

A 42-year-old woman was treated with total abdominal hysterectomy and bilateral salpingo- oophorectomy due to endometrial carcinoma 3 years ago, and has taken regular check-ups ever since. A 1.0cm-sized, yellow-orange colored, pedunculated mass had ben developed on her scalp about 1 year before. Excision showed an exophytic pedunculated, well-circumscribed nodule composed of predominant undifferentiated basaloid cells, some vacuolated sebocytes and numerous sebaceous duct like structures. There was no relapse during the follow-up of about 6 months. The development of sebaceous epithelioma in this case would be associated with Muir-Torre syndrome.
Adult ; Carcinoma* ; Endometrial Neoplasms ; Female ; Follow-Up Studies ; Humans ; Hysterectomy ; Muir-Torre Syndrome ; Ovariectomy ; Recurrence ; Scalp

PURPOSE: To report a rare case of sebaceoma misdiagnosed as chalazion. CASE SUMMARY: A 42-year-old female presented with a visible mass in her right lower eyelid. An elevated, hard mass was located at the margin of the right lower eyelid, and she had a history of incision and curettage under the clinical impression of chalazion. On eversion of the lower eyelid, the tarsal portion of the mass was visible as a white-yellowish lesion. The mass was excised under local anesthesia. A sebaceoma was diagnosed based on histopathological examinations. Immunohistochemical studies showed positive staining results for mutator L homologue 1 (MLH1), mutator S homologue 2 (MSH2), and mutator S homologue 6 (MSH6), and she had no past medical history or family history of internal malignancy, suggesting a low possibility of Muir-Torre syndrome. CONCLUSIONS: Eyelid sebaceoma should be considered as a differential diagnosis for refractory chalazion.
Adult ; Anesthesia, Local ; Chalazion* ; Curettage ; Diagnosis, Differential ; Eyelids* ; Female ; Humans ; Muir-Torre Syndrome

Sebaceous carcinoma is a malignant tumor derived from the adnexal epithelium of sebaceous glands and is usually located on the meibomian glands of the eyelid, but may occur on the extraocular sites. We present two cases of sebaceous carcinoma developed on the unusual site. The first case was 66-year old woman, who had 2.2X3.0cm sized, yellowish, verrucous surfaced plaque on the abdomen for 20 years. The second case of 79-year old man had annular shaped erythematous greasy patch with peripherally located flat plaque on the left scapular area for 1 month. His past medical history included subtotal gastrectomy for early gastric cancer(type IIa) and could not find any recurrence or metastasis for 4 years duration. The histopathologic examination revealed irregular, variable sized tumor lobules. Each lobule was composed of sebaceous and undifferentiated cells showing considerable variation in the shape and size of their nuclei and prominent nucleoli. On the basis of clinicopathologic examination we diagnosed first case as sebaceous carcinoma and second case as Muir-Torre syndrome.
Abdomen ; Aged ; Epithelium ; Eyelids ; Female ; Gastrectomy ; Humans ; Meibomian Glands ; Muir-Torre Syndrome* ; Neoplasm Metastasis ; Recurrence ; Sebaceous Glands

We report a case of Muir-Torre syndrome (MTS) with a very rare combination of cancers, involving bilateral eyelid cancers and breast cancer. A 71-year-old female with a history of breast cancer from 18 years prior presented with bilateral eyelid tumors. One of her siblings had lung cancer, and another had pancreatic cancer. She underwent excisional biopsy of the eyelid tumors and histopathology revealed sebaceous carcinoma of the right eyelid and basal cell carcinoma of the left. She was diagnosed with MTS: a skin cancer associated with visceral malignancy. Immunohistochemical tests for mutS homolog 2 showed a lack of expression in both eyelid carcinomas.
Aged ; Breast Neoplasms/*pathology ; Eyelid Neoplasms/*pathology ; Family Health ; Female ; Humans ; Muir-Torre Syndrome/*pathology ; Neoplasms, Multiple Primary/*pathology

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by at least one rare sebaceous neoplasm occurring in association with at least one internal malignancy. The visceral neoplasms most frequently associated with MTS are colorectal and genitourinary cancer, accounting for approximately 50 and 25% of cases, respectively. MTS rarely occurs in association with head and neck cancers. We report a rare case of MTS involving follicular thyroid carcinoma in an 84-year-old female.
Accounting ; Adenocarcinoma, Follicular ; Aged, 80 and over ; Carcinoma ; Female ; Head ; Humans ; Muir-Torre Syndrome ; Neck ; Thyroid Gland ; Thyroid Neoplasms ; Urogenital Neoplasms

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by at least one rare sebaceous neoplasm occurring in association with at least one internal malignancy. The visceral neoplasms most frequently associated with MTS are colorectal and genitourinary cancer, accounting for approximately 50 and 25% of cases, respectively. MTS rarely occurs in association with head and neck cancers. We report a rare case of MTS involving follicular thyroid carcinoma in an 84-year-old female.
Accounting ; Adenocarcinoma, Follicular ; Aged, 80 and over ; Carcinoma ; Female ; Head ; Humans ; Muir-Torre Syndrome ; Neck ; Thyroid Gland ; Thyroid Neoplasms ; Urogenital Neoplasms

Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatoses, first described in 1967. It is characterized by the presence of sebaceous tumors and an internal malignancy in the absence of other predisposing factors. The most common internal malignancy associated with MTS is colorectal adenocarcinoma, although a wide tumor spectrum exists including carcinomas of the genitourinary tract, breast, and hematologic malignancy. It is rare for more than two internal malignancies to occur in MTS. We report a rare case of MTS with B-cell lymphoma, esophageal cancer and gastric malignancy in a 63-year-old male.
Adenocarcinoma ; Breast ; Causality ; Esophageal Neoplasms* ; Hematologic Neoplasms ; Humans ; Lymphoma* ; Lymphoma, B-Cell ; Male ; Middle Aged ; Muir-Torre Syndrome ; Stomach Neoplasms*

Tumors from patients with hereditary non-polyposis colorectal cancer (HNPCC)and from a subset of patients with the related Muir-Torre syndrome exhibit a type of a genetic instability, known as microsatellite instability (MIS), which results from mutations that inactivate DNA mismatch repair genes. Keratoacanthomas resemble squamous cell carcinoma but after a period of rapid growth over a few months they involute completely. The detection of MIS in a keratoacanthoma from a patient with Muir-Torre syndrome suggested that defective mismatch repair genes may play a role in the pathogenesis of these neoplasmas. In order to elucidate the significance of both MIS and loss of heterozygosity (LOH)in the pathogenesis of sporadic keratoacanthomas, the presents of MIS and LOH at 11 microsatellite markers (D2S286, D2S367, D3S1317, D5S346, D9S16, D9S171, D10S89, D10S185, D11S904, D17S261, and D17S520) were evaluated in randomly selected sporadic keratoacanthomas. MIS and LOH were found only in 1 of 10 cases at D17S261 and D10S185, respectively. In conclusion, the low frequency of MIS and LOH detected in this study suggests that neither MIS nor LOH appear to be significant in the induction of sporadic keratoacanthomas.
Carcinoma, Squamous Cell ; Colorectal Neoplasms ; DNA Mismatch Repair ; Humans ; Keratoacanthoma* ; Loss of Heterozygosity* ; Microsatellite Instability* ; Microsatellite Repeats* ; Muir-Torre Syndrome