Sustained response to pembrolizumab in recurrent perivascular epithelioid cell tumor with elevated expression of programmed death ligand: a case report

Ali Mcbride,Lee D Cranmer,Kelly Yiu,Matthew Kay,Phillip H Kuo,Andrew J Garcia,Andrew S Kraft,Lauren J Sanders

doi:10.1186/s13256-021-02997-x

Abstract

BackgroundPerivascular epithelioid cell tumors are defined by the World Health Organization as “a collection of rare mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells.” Whereas localized perivascular epithelioid cell tumor is typically benign and treated successfully with surgical resection, prognosis for patients with advanced or metastatic perivascular epithelioid cell tumor is unfavorable, and there is no standard curative treatment.Case presentationWe report a Caucasian case of metastatic perivascular epithelioid cell tumor previously treated with chemotherapy and surgery with elevated surface expression of programmed cell death ligand 1. Based on this result, treatment via immune checkpoint inhibition with the monoclonal antibody pembrolizumab was pursued. After 21 cycles, the patient sustained a complete response. Therapy was stopped after the 40th cycle, and she was moved to surveillance. She remained disease free 19 months off treatment.ConclusionsThis case report of a patient with perivascular epithelioid cell tumor treated successfully with programmed cell death protein-1 targeted therapy suggests that programmed cell death ligand-1 levels should be measured in patients with perivascular epithelioid cell tumor and immunotherapy considered for recurrent or metastatic patients. Future phase II/III studies in this disease should focus on sequencing of surgery and immunotherapy with a design of curative intent.

Highlights

Perivascular epithelioid cell tumors are defined by the World Health Organization as “a collection of rare mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells.” Whereas localized perivascular epithelioid cell tumor is typically benign and treated successfully with surgical resection, prognosis for patients with advanced or metastatic perivascular epithelioid cell tumor is unfavorable, and there is no standard curative treatment.Case presentation: We report a Caucasian case of metastatic perivascular epithelioid cell tumor previously treated with chemotherapy and surgery with elevated surface expression of programmed cell death ligand 1
Perivascular epithelioid cell tumor (PEComa) presents as a painless mass, with the exception of uterine PEComas and CCMMT, which present with vaginal bleeding and painful abdominal masses, respectively
To date, no large-scale clinical studies have evaluated the use of mechanistic target of rapamycin (mTOR) inhibitors for PEComa, preliminary data are promising and suggest the possibility of complete response [12, 13]

Summary

Conclusions

We report here on a case of metastatic PEComa in a 69-year-old female, previously treated with chemotherapy and surgery with noted expression of PD-L1. Given the favorable outcome observed, in the case of recurrence following surgical resection of the primary tumor, PD-1/ PD-L1 should be measured and the possibility of utilizing targeted immunotherapy considered. Even though this is a rare disease, questions relating to sequencing of therapy, including surgery and immunotherapy, should be evaluated by clinical trials

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