Response to Combination of Pembrolizumab and Axitinib in Hereditary Leyomiomatosis and Renal Cell Cancer (HLRCC)

Abstract

In current clinical guidelines, such as those provided by the National Comprehensive Cancer Network (NCCN), evidence for treatment is based on a small clinical trial that included patients with HLRCC. They support the use of the combination of erlotinib and bevacizumab as the first therapeutic option in this rare condition. In the present study, we report a rare case of this condition in an 18-year-old male with a family history of kidney cancer whom we successfully treated with surgery and a novel drug treatment modality based on the combination of an immune check-point inhibitor (ICPI) and a tyrosine-kinase inhibitor (TKI) with excellent and promising results.

Bilateral fumarate hydratase deficient renal cell carcinoma in a patient with hereditary leiomyomatosis and renal cell cancer syndrome

“…Combination therapy with bevacizumab and erlotinib is recommended as the first‐line systemic therapy for patients with metastasis 2 . Because programmed death‐ligand 1 is highly expressed in HLRCC‐related RCC and CD8‐positive lymphatic cells accumulate around tumors, 9 immune checkpoint inhibitors are effective in some cases 10,11 . To date, no effective treatment has been established for neo‐adjuvant or adjuvant chemotherapy.…”