Open AccessA Case of Metastatic Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome-Associated Renal Cell Carcinoma Treated with a Sequence of Axitinib and Nivolumab Following Cytoreductive Nephrectomy
Author(s) -
Ichiro Yonese,
Masaya Ito,
Kosuke Takemura,
Takao Kamai,
Fumitaka Koga
Publication year - 2020
Publication title -
journal of kidney cancer and vhl
Language(s) - English
Resource type - Journals
ISSN - 2203-5826
DOI - 10.15586/jkcvhl.2020.148
Subject(s) - medicine , renal cell carcinoma , axitinib , nivolumab , nephrectomy , kidney cancer , leiomyomatosis , cancer , pathology , oncology , cancer research , kidney , immunotherapy , sunitinib , leiomyoma
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) associated renal cell carcinoma (RCC) is an aggressive form of type 2 papillary RCC caused by deficiency of the fumarate hydratase gene. For patients with metastatic disease, no standard treatment has been established with dismal prognosis. We report a case of metastatic HLRCC-associated RCC in a 65-year-old Japanese male whose clinical features mimicked advanced renal pelvic cancer. A durable response was achieved with a sequence of axitinib and nivolumab after cytoreductive and diagnostic nephrectomy. Their potential therapeutic roles in the management of metastatic HLRCC-associated RCC have been discussed based on its molecular and biological backgrounds.