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Pembrolizumab for Xeroderma Pigmentosum and Advanced Squamous Cell Carcinoma: A Case Study

By: Cordi Craig
Posted: Friday, October 18, 2019

Patients with xeroderma pigmentosum, a rare autosomal-recessive disorder, are reportedly 10,000 times more likely to develop cutaneous squamous cell carcinoma. Although a small number of previous studies have evaluated the use of immune checkpoint blockade to treat patients with advanced squamous cell carcinoma and xeroderma pigmentosum, Angela Steineck, MD, of the Seattle Children’s Hospital, and colleagues support the long-term use of the PD-1 inhibitor pembrolizumab for disease management. The case study report was published in JCO Precision Oncology.

The authors studied a patient diagnosed with xeroderma pigmentosum at age 2. At age 7, she developed facial weakness and swelling on her right side, and an MRI revealed a concerning lesion. She presented with severe facial pain and cough to Seattle Children’s Hospital 2 months later. A month after diagnosis of metastatic squamous cell carcinoma, she received pembrolizumab.

After immunotherapy, there was a considerable decrease in tumor bulk. The chronic cough resolved, and she reported an improvement in facial pain. The patient has currently received pembrolizumab for 2 years, with stable imaging findings for more than 18 months and no significant adverse effects. Despite responses by the oculocutaneous lesions, however, her right corneal tumor persisted, with mild progression. The cornea is immune-privileged and does not have T-cell immunosurveillance, which may explain the lack of response, the authors proposed.

“Our experience and molecular findings support the use of PD-1 inhibitors in advanced cutaneous squamous cell carcinoma, especially in patients with xeroderma pigmentosum, and highlights the need for additional research,” the authors concluded.

Disclosure: The study authors’ disclosure information can be found at ascopubs.org.

 

 



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