The Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC) is associated with the presence of both leiomyomas and renal cell carcinoma in a family.
Gene affected: fumarate hydratase (FH)
Chromosome: 1q42.3-43
Inheritance: autosomal dominant
Features:
(1) leiomyomas of the uterus in women
(2) leiomyomas of the skin and other sites
(3) renal cell carcinoma, which may be unilateral or bilateral
The renal cell carcinoma may be aggressive, with the prognosis poor if the patient presents with advanced disease. These patients need to be monitored closely to detect any renal tumors early.
The syndrome can be suspected if tumor cells show:
(1) a large eosinophilic nucleolus
(2) clear halo surrounding the nucleolus (perinucleolar halo)
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