Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case report
Patients with Muir-Torre Syndrome (MTS) are at increased risk of developing sebaceous carcinomas besides other visceral malignancies. Pembrolizumab is an effective therapy in patients with high microsatellite instability (MSI-H)/mismatch repair deficient (dMMR) tumors. We report a 70-year-old Caucas...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-06-01
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| Series: | Current Problems in Cancer: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666621922000205 |
| _version_ | 1817969668920442880 |
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| author | Ahmed Abdalla Gabriel Roman Souza Daruka Mahadevan |
| author_facet | Ahmed Abdalla Gabriel Roman Souza Daruka Mahadevan |
| author_sort | Ahmed Abdalla |
| collection | DOAJ |
| description | Patients with Muir-Torre Syndrome (MTS) are at increased risk of developing sebaceous carcinomas besides other visceral malignancies. Pembrolizumab is an effective therapy in patients with high microsatellite instability (MSI-H)/mismatch repair deficient (dMMR) tumors. We report a 70-year-old Caucasian man with a diagnosis of MTS who had multiple sebaceous carcinomas. Molecular profiling and immunohistochemical staining of the tumor cells revealed MSI-H/dMMR and high tumor mutational burden (TMB). He did not have evidence of metastatic disease. Following multiple failed local therapies to the left upper eyelid disease, he was treated with four doses of pembrolizumab which resulted in a complete resolution of the lesion. This case shows that Pembrolizumab can provide a complete response in MTS patients with MSI-H/dMMR sebaceous carcinoma. Although promising, this needs to be further validated in clinical trials. |
| first_indexed | 2024-04-13T20:24:04Z |
| format | Article |
| id | doaj.art-abdbf62ea87748809db832bf5cc2652e |
| institution | Directory Open Access Journal |
| issn | 2666-6219 |
| language | English |
| last_indexed | 2024-04-13T20:24:04Z |
| publishDate | 2022-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Current Problems in Cancer: Case Reports |
| spelling | doaj.art-abdbf62ea87748809db832bf5cc2652e2022-12-22T02:31:26ZengElsevierCurrent Problems in Cancer: Case Reports2666-62192022-06-016100156Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case reportAhmed Abdalla0Gabriel Roman Souza1Daruka Mahadevan2Mitchell Cancer Center, University of South Alabama, 1660 Spring Hill Ave, Mobile, AL 36604, United States; Corresponding author.Mays Cancer Center, MD Anderson Cancer Center, Institute for Drug Development, University of Texas Health, San Antonio, TX, United StatesMays Cancer Center, MD Anderson Cancer Center, Institute for Drug Development, University of Texas Health, San Antonio, TX, United StatesPatients with Muir-Torre Syndrome (MTS) are at increased risk of developing sebaceous carcinomas besides other visceral malignancies. Pembrolizumab is an effective therapy in patients with high microsatellite instability (MSI-H)/mismatch repair deficient (dMMR) tumors. We report a 70-year-old Caucasian man with a diagnosis of MTS who had multiple sebaceous carcinomas. Molecular profiling and immunohistochemical staining of the tumor cells revealed MSI-H/dMMR and high tumor mutational burden (TMB). He did not have evidence of metastatic disease. Following multiple failed local therapies to the left upper eyelid disease, he was treated with four doses of pembrolizumab which resulted in a complete resolution of the lesion. This case shows that Pembrolizumab can provide a complete response in MTS patients with MSI-H/dMMR sebaceous carcinoma. Although promising, this needs to be further validated in clinical trials.http://www.sciencedirect.com/science/article/pii/S2666621922000205Sebaceous carcinoma of the eyelidMuir-Torre syndromePembrolizumab |
| spellingShingle | Ahmed Abdalla Gabriel Roman Souza Daruka Mahadevan Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case report Current Problems in Cancer: Case Reports Sebaceous carcinoma of the eyelid Muir-Torre syndrome Pembrolizumab |
| title | Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case report |
| title_full | Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case report |
| title_fullStr | Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case report |
| title_full_unstemmed | Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case report |
| title_short | Sebaceous carcinoma of the eyelid in a patient with Muir-Torre syndrome treated with pembrolizumab: A case report |
| title_sort | sebaceous carcinoma of the eyelid in a patient with muir torre syndrome treated with pembrolizumab a case report |
| topic | Sebaceous carcinoma of the eyelid Muir-Torre syndrome Pembrolizumab |
| url | http://www.sciencedirect.com/science/article/pii/S2666621922000205 |
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