Concurrent renal-cell carcinoma and cutaneous leiomyomas: A case of HLRCC

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• 作者：Sara A. Fondriest ; BS¹ ; ^{sfondriest@neomed.edu" class="auth_mail" title="E-mail the corresponding author} ; John M. Gowdy ; DO¹ ; Manish Goyal ; MD¹ ; Katherine C. Sheridan ; MD¹ ; Daniel A. Wasdahl ; MD
• 刊名：Radiology Case Reports
• 出版年：2015
• 出版时间：2015
• 年：2015
• 卷：10
• 期：1
• 全文大小：2623 K

文摘

A 51-year-old Caucasian female presenting with renal-cell cancer and cutaneous leiomyomas was later diagnosed with Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome. HLRCC is an autosomal dominant condition caused by a mutation in the fumarate hydratase gene, which encodes for an enzyme in the citric acid cycle. This syndrome has been reported in over 100 families throughout the world, the majority of whom are of Eastern European descent. Those with this syndrome have a significantly increased risk of developing renal-cell carcinoma, cutaneous leiomyomas, and uterine leiomyomas, and a smaller chance of developing uterine leiomyosarcomas. This syndrome has a relatively poor prognosis, with tumor metastasis occurring in approximately 50% of patients. However, more aggressive prophylactic measures and recent studies have shown potential to improve patient prognosis.