ReviewEuropean journal of human genetics : EJHG2026
Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications.
Review in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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11 authors.
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Abstract
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare cancer predisposition syndrome in which uterine leiomyomas (ULs) are common, morbid, and often precede renal cancer diagnosis. We synthetized evidence on the clinical presentation, pathology, management, and reproductive outcomes of HLRCC-associated ULs. MEDLINE, Embase, Scopus, Web of Science Core Collection, and ClinicalTrials.gov were searched for peer-reviewed studies reporting original data on ULs in HLRCC. Two reviewers independently screened articles and extracted data. Individual patient data from 410 patients and aggregate data from 27 observational studies were included. Mean age at UL diagnosis was 32.4 years. Most patients (89.1%) had multiple fibroids, were symptomatic (88.1%), and commonly reported abnormal uterine bleeding (80.6%) or pelvic pain (41.2%). Average maximum fibroid size was 7.5 cm. Fumarate hydratase (FH) and/or S-(2-succino)cysteine (2SC) immunohistochemistry studies showed abnormal staining in >85% of tumors. Surgical intervention was required in 94.4% of patients; hysterectomy was most common (67.0%), at a mean age of 35.2 years, whereas myomectomy was performed in 27% at 27.7 years. Despite a family history of HLRCC-related features in 88.8% of patients, only 0.6% underwent germline FH testing before gynecologic diagnosis. Fertility and obstetric outcomes were sparsely reported. Uterine leiomyosarcoma was rare, with an uncertain syndromic association. HLRCC-associated ULs are genetically, morphologically, and clinically distinct from sporadic fibroids, yet remain under-recognized. Integrating age, multiplicity, symptoms, family history, and pathology-triggered FH/2SC immunohistochemistry into gynecologic practice would enable earlier germline testing, renal surveillance, and reproductive counseling. Prospective registries are needed to define genotype-phenotype relationships, fertility outcomes, and leiomyosarcoma risk.
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Registered trials
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