Sebaceous Carcinoma Arising in Ovarian Teratoma: First Report Associated With Germline Mismatch Repair Gene Mutation.

Abstract

Sebaceous carcinoma is an uncommon primary cutaneous neoplasm which may be associated with mismatch repair (MMR) abnormalities and sometimes with Muir-Torré syndrome. These neoplasms rarely arise in the ovary within a teratoma/ dermoid cyst. We report a sebaceous carcinoma arising in an ovarian teratoma in a 49-yr old (the 14th case reported in the literature) which exhibited loss of expression of MMR proteins MSH2 and MSH6. A germline mutation c.1102C>T was present in exon 7 of the MSH2 gene, the first report of a germline mutation associated with this tumor type. In reporting this case, we review prior reports of primary ovarian sebaceous carcinoma. We recommend that all sebaceous carcinomas of the ovary undergo immunohistochemistry for MMR proteins for investigation of possible Lynch syndrome.

• Authors: Jacinta Murray, Patrick McIlwaine, Patrick J Morrison, W Glenn McCluggage
• Journal: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists (Int J Gynecol Pathol) Vol. 41 Issue 6 Pg. 608-614 (Nov 01 2022) ISSN: 1538-7151 [Electronic] United States
• PMID: 35077082 (Publication Type: Review, Journal Article)
• Copyright: Copyright © 2021 by the International Society of Gynecological Pathologists.

Chemical References

• MutS Homolog 2 Protein
• DNA-Binding Proteins

Topics

• Female
• Humans
• MutS Homolog 2 Protein (genetics, metabolism)
• DNA Mismatch Repair (genetics)
• DNA-Binding Proteins (genetics)
• Muir-Torre Syndrome (complications, genetics)
• Teratoma (genetics)
• Germ-Line Mutation
• Carcinoma