A case report of hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

Sunao Nohara; Shotaro Nakanishi; Tomoki Matsuo; Tomoko Tamaki; Seiici Saito

doi:10.1016/j.eucr.2024.102738

A case report of hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

Urol Case Rep. 2024 Apr 10:54:102738. doi: 10.1016/j.eucr.2024.102738. eCollection 2024 May.

Authors

Sunao Nohara¹, Shotaro Nakanishi¹, Tomoki Matsuo¹, Tomoko Tamaki², Seiici Saito¹

Affiliations

¹ Department of Urology University of the Ryukyus, Okinawa, 9030215, Japan.
² Department of Pathology University of the Ryukyus, Okinawa, 9030215, Japan.

Abstract

Leiomyomatosis and renal cell carcinoma (HLRCC) are rare autosomal dominant cancer syndromes characterized by cutaneous leiomyoma, uterine leiomyoma, and renal cell carcinoma (RCC). RCC in HLRCC is an aggressive metastatic tumor that develops at a young age. Here, we report the case of a patient with HLRCC who was diagnosed after the spontaneous rupture of a renal tumor. The patient underwent cytoreductive surgery, followed by combination therapy with the immune checkpoint inhibitor (ICI) nivolumab and cabozantinib, a tyrosine kinase inhibitor (TKI); however, no improvements were achieved.

Keywords: Cytoreductive surgery; Fumarate hydratase; Immune checkpoint inhibitor; Leiomyomatosis; Renal cell carcinoma; Tyrosine kinase inhibitor.

Publication types

Case Reports