Hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated kidney cancer is a rare and exceptionally aggressive, with early metastasis and die at a young age. Most reported patients usually present with back pain and hematuria, and died within 5 years after diagnosis. Currently, there is not a guideline or census about the management of HLRCC. On April 19, 2019, the Food and Drug Administration (FDA) of the USA approved the combination of pembrolizumab and axitinib for first-line treatment of patients with advanced renal cell carcinoma based on the results of KEYNOTE-426 trial. Thus, the combination of immunotherapy and targeted therapy should be considered for HLRCC. We present a case of 46-year-old man without family history, possessing specific mutation and sensitive to the combination of immunotherapy and targeted therapy. After he completed seven cycles of combined treatments, his discomfort improved and the lesions of pleura almost disappeared and the mass in the left kidney area was basically stable. This patient might be the first one to receive the combination therapy and the efficacy seemed acceptable.
Keywords: Hereditary leiomyomatosis and renal cell cancer (HLRCC); case report; immunotherapy; mutation; targeted therapy.
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