Biomedical
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome
Peer Reviewed
Abstract
In hereditary leiomyomatosis and renal cell carcinoma syndrome, fumarate hydratase–deficient renal cell carcinomas typically present as aggressive, unilateral, often cystic masses with heterogeneous enhancement. These tumors can metastasize early, making appropriate imaging and staging critical for diagnosis and management. Teaching point: When a renal lesion suspected of RCC is identified in a patient with cutaneous and uterine leiomyomas, HLRCC should be evaluated, which is important for future genetic counseling.
Key Questions
What is Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome?
HLRCC is a rare autosomal-dominant syndrome characterized by the triad of cutaneous leiomyomas, uterine leiomyomas, and fumarate hydratase (FH)–deficient renal cell carcinoma.
What are the typical imaging features of FH-deficient renal cell carcinomas in HLRCC?
FH-deficient renal cell carcinomas typically present as aggressive, unilateral, often cystic masses with heterogeneous enhancement on imaging studies.
Why is early detection and appropriate imaging important in HLRCC?
These tumors can metastasize early, making appropriate imaging and staging critical for diagnosis and management.
What clinical features should prompt evaluation for HLRCC?
The presence of cutaneous and uterine leiomyomas in a patient with a renal lesion suspected of RCC should prompt evaluation for HLRCC, which is important for future genetic counseling.
