Key clinical point: Hereditary leiomyomatosis and renal cell cancer (HLRCC) can be distinguished from sporadic uterine leiomyomas (ULs) by clinical characteristics and morphologic features of fumarate hydratase (FH)-mutant leiomyomas aided by Bcl-2 and CD34 immunohistochemistry.
Major finding: Women with HLRCC vs. sporadic ULs were significantly younger (33.8 years vs 45.4 years), more frequently symptomatic (95% vs 6.5%), and had numerous ULs (more than 4 tumors, 88.9% vs 30.8%; all P < .0001). Stronger Bcl-2 staining ( P = .003) and higher microvessel density highlighted by CD34 immunostaining ( P < .0001) distinguished HLRCC-related leiomyomas from sporadic leiomyomas.
Study details: Findings are from a nationwide study including 20 women with a known FH germline mutation and 77 women with sporadic ULs.
Disclosures: This study was supported by the Academy of Finland, Sigrid Jusélius Foundation, Cancer Society of Finland, and Finnish Medical Foundation. The authors declared no conflict of interests.
Source: Uimari O et al. Acta Obstet Gynecol Scand. 2021 Sep 3. doi: 10.1111/aogs.14248 .