Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma
A high-grade carcinoma with variable architectural pattern in the same tumor, often with prominent nucleoli and perinucleolar clearing and demonstrating germline mutations in the gene encoding fumarate hydratase (FH).
It is a rare tumor, comprising <1% of all resected tumors.
The mean age is around 40 years.
No sex predilection has been noted.
There is no site predilection.
The prognosis of patients with hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma is poor with tendency to early widespread dissemination.
Unlike most hereditary renal cell carcinomas involving the kidneys, hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma may present as a single...
References and Further Reading
- Muller, M., Guillaud-Bataille, M., Salleron, J., et al. (2018). Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration. Modern Pathology, 31, 974–983.CrossRefGoogle Scholar