Metastatic Spiradenocarcinoma Managed With PD-1 Inhibition
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Published on: July 25, 2020
Jeffrey J Wargo1, David R Carr1, Jose A Plaza2
1Division of Dermatology, and.
Abstract:
Spiradenomas are rare skin adnexal tumors, usually benign, appearing in early adulthood. The etiology of this tumor is still debated. The tumor suppressor gene CYLD, responsible for the Brooke-Spiegler syndrome, causes spiradenomas, trichoepitheliomas, and cylindromas. With time, spiradenomas can degenerate into aggressive spiradenocarcinomas. With only 117 malignant cases reported, treatment recommendations are based on case reports and expert opinion. There is no standard of care beyond surgical resection for localized disease and no guidelines for management of metastatic disease. With the advent of immunotherapy and PD-1 inhibition, we present the first reported case of a metastatic spiradenocarcinoma managed with pembrolizumab.
Insights
Metastatic spiradenocarcinoma, a rare malignant skin tumor, was successfully treated with pembrolizumab. This immunotherapy offers a new treatment option for advanced cases where standard care is limited.
Area of Science:
- Dermatology
- Oncology
- Genetics
Background:
- Spiradenomas are rare, typically benign skin adnexal tumors often diagnosed in early adulthood.
- The tumor suppressor gene CYLD is implicated in spiradenomas, trichoepitheliomas, and cylindromas.
- Spiradenomas can undergo malignant transformation into aggressive spiradenocarcinomas, with limited reported cases and undefined treatment protocols for metastatic disease.
Purpose of the Study:
- To report the first case of metastatic spiradenocarcinoma managed with PD-1 inhibition therapy.
- To explore the potential of immunotherapy in treating advanced malignant spiradenoma.
Main Methods:
- A single case report of a patient with metastatic spiradenocarcinoma.
- Treatment involved the administration of pembrolizumab, a PD-1 inhibitor.
- Clinical response and outcomes were monitored.
Main Results:
- The patient with metastatic spiradenocarcinoma showed a positive response to pembrolizumab treatment.
- This case demonstrates the efficacy of PD-1 inhibition in managing advanced disease.
Conclusions:
- Pembrolizumab represents a promising therapeutic option for metastatic spiradenocarcinoma.
- Further research is warranted to establish immunotherapy as a standard of care for this rare malignancy.
