Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma
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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 unilateral mass. They may show solid and cystic appearance in variable proportion.
A variety of morphologic patterns including papillary, tubular, tubulocystic, solid, and mixed have been described (Fig. 1). The characteristic nuclear features (large nuclei with prominent eosinophilic nucleoli) may only be present focally in the large eosinophilic cells of the tumor (Smith et al. 2016; Muller et al. 2018).
Loss of FH and overexpression of modified cysteine (2SC) are diagnostic.
Germline mutations in FH have been found in 99% of the families.
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