Nuño ULD, Rodríguez GA, Martínez TB, López CJP, Magdaleno GDE, Vásquez LCM

Language: Spanish
References: 10
Page: 1-10
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ABSTRACT

Clinical case description: this is the case of a 30-year-old woman with a surgical history of diagnostic laparoscopy for acute abdominal pain, which revealed a strangulated uterine fibroid. A CT scan showed a left renal tumor, which was monitored for 2 years, during which volume increase was identified. A left radical laparoscopic nephrectomy was performed, revealing renal cell carcinoma with fumarate hydratase deficiency in immunohistochemistry (IHC). A follow-up PET CT showed a suspicious pulmonary lesion, which was later treated with metastasectomy.
Relevance: hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare condition that increases the risk of renal cancer, among other conditions.
Clinical implications: this syndrome is caused by a germline mutation in the fumarate hydratase gene, which alters fumarate metabolism, destabilizes cellular metabolism, and deregulates cell growth. This leads to cutaneous and uterine manifestations and increases the risk of renal cancer.
Conclusions: although rare, HLRCC is associated with significant morbidity due to cutaneous and uterine alterations, as well as aggressive renal cancer. Close monitoring and a radical approach to suspicious renal lesions are required.

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