Sebaceous carcinoma arising within an ovarian mature cystic teratoma: A case report with discussion of clinical management and genetic evaluation

Abstract

Sebaceous carcinomas are rare tumors, with the majority of described cases occurring within the eyelid. To date, there are nine documented reports of sebaceous carcinoma arising within a mature cystic teratoma of the ovary. Although the majority of cases originate from idiopathic mutations, there exists a strong association between this rare tumor and hereditary syndromes of DNA mismatch repair deficiency, such as Lynch syndrome and the lesser-known Muir-Torre syndrome. Here we present the case of a 67 year-old woman with a longstanding history of a small left ovarian cyst with sonographic features of an ovarian dermoid. After nine years, the left adnexal mass was noted to have enlarged, and she underwent a laparoscopic bilateral salpingo-oophorectomy. The final pathology was reported as sebaceous carcinoma arising within a mature cystic teratoma. The patient underwent subsequent surgical staging and has been followed for eight months without evidence of disease. This report includes a review of the current literature, as well as a brief discussion of the clinical management of women with sebaceous carcinoma arising within a mature teratoma. Additionally, we comment on the broader, hereditary significance of a diagnosis of sebaceous carcinoma, and use this case to demonstrate the thorough histologic and genetic evaluation that is recommended for patients diagnosed with this rare tumor.

Keywords: Dermoid cyst; Hereditary nonpolyposis colorectal cancer (HNPCC); Lynch syndrome; Mature cystic teratoma; Muir-Torre syndrome; Sebaceous carcinoma.

Fig. 1

(Left to right) 1A: Basaloid cells with squamoid features, atypia, pleomorphism and hyperchromasia (H&E original magnification × 100). 1B: Increased mitotic activity (H&E original magnification × 400).

Fig. 2

(Left to right) 2A: Increased nuclear Ki-67 immunoreactivity (~30%) within tumors cells (magnification x40, immunohistochemistry) 2B: Strong and diffuse nuclear p53 immunoreactivity within tumor cells (magnification x40, immunohistochemistry).

Fig. 3

(Left to right) 3A,B: Retained nuclear PMS-2 and MLH-1 immunoreactivity within tumor cells (magnification x40, immunohistochemistry) 3C,D: Loss of nulcear MSH-2 and MSH-6 immunoreactivity within tumor cells (magnification x40, immunohistochemistry).