Definition
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).
Clinical Features
Patients may present with cutaneous and/or uterine leiomyomas (Reed’s syndrome) (Patel et al. 2017). Cases with somatic and not germline mutation in FH gene has been reported.
Incidence
It is a rare tumor, comprising <1% of all resected tumors.
Age
The mean age is around 40 years.
Sex
No sex predilection has been noted.
Site
There is no site predilection.
Treatment
Radical nephrectomy.
Outcome
The prognosis of patients with hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma is poor with tendency to early widespread dissemination.
Macroscopy
Unlike most hereditary renal cell carcinomas involving the kidneys, hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma may present as a single...
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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.
Ohe, C., Smith, S. C., Sirohi, D., et al. (2018). Reappraisal of morphologic differences between renal medullary carcinoma, collecting duct carcinoma, and fumarate hydratase-deficient renal cell carcinoma. The American Journal of Surgical Pathology, 42, 279–292.
Patel, V. M., Handler, M. Z., Schwartz, R. A., & Lambert, W. C. (2017). Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. Journal of the American Academy of Dermatology, 77, 149–158.
Smith, S. C., Trpkov, K., Chen, Y. B., et al. (2016). Tubulocystic carcinoma of the kidney with poorly differentiated foci: A frequent morphologic pattern of fumarate hydratase-deficient renal cell carcinoma. The American Journal of Surgical Pathology, 40, 1457–1472.
Smith, S. C., Sirohi, D., Ohe, C., et al. (2017). A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma. Histopathology, 71, 42–52.
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Caliò, A., Segala, D., Martignoni, G. (2019). Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4825-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_4825-1
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