Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature

Vol. 61 No. 2, 2020


Liliana Gabriela Popa, Raluca Silvia Lutuc, Mara Madalina Mihai, Irina Ahmed Salem, Silvius Ioan Negoita, Calin Giurcaneanu, Simona Vasilica Fica

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an exceptionally rare autosomal dominant condition caused by a germline heterozygous mutation of the fumarate hydratase gene. It manifests as multiple piloleiomyomas, associated with numerous, early-onset uterine leiomyomas in female patients, as well as a highly increased risk of renal cell carcinoma (RCC), most often type 2 papillary RCC. HLRCC has been described in association with adrenal cortical hyperplasia, pheochromocytoma, adrenal cortical carcinoma, and other solid tumors, but the exact relationship between these disorders has not yet been clarified. We present a case of HLRCC associated with bilateral adrenal cortical hyperplasia and discuss the pathogenesis, clinical and paraclinical features of HLRCC, as well as the adequate management of these patients.

Corresponding author: Mara Madalina Mihai, Assistant Professor, MD, PhD; e-mail:

DOI: 10.47162/RJME.61.2.29 Download PDF
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