ArticleThe American journal of surgical pathology2016
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Article in The American journal of surgical pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 of them syntheses that pooled it.
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Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 137 citations in OpenAlex.
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: III: Molecular Pathology of Kidney Cancer.The American journal of surgical pathology · 2020Guideline
- Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications.European journal of human genetics : EJHG · 2026Review
- Fumarate Hydratase-Deficient Uterine Leiomyomas: Germline Genetic Findings and Clinical Follow-Up in a Single-Center Cohort.Diagnostics (Basel, Switzerland) · 2026Article
- HIF-1α Signaling in Uterine Fibroids: A Central Integrator of Hypoxic, Hormonal, and Fibrotic Pathways.Oxygen (Basel, Switzerland) · 2026Article
- FH-deficient uterine leiomyoma: A rare case report highlighting diagnostic and clinical challenges.Radiology case reports · 2026Article
- Article
- Recent developments in eosinophilic renal neoplasms: what's new, true and important?Histopathology · 2026Review
- Molecularly defined renal cell carcinomas.Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2026Review
- Case Series of Rare Uterine Smooth Muscle Tumors: Diagnostic Challenges and Clinical Implications.Cureus · 2026Article
- Diagnostic Value and Interobserver Reproducibility of Histopathological Features in Fumarate Hydratase-Deficient Uterine Leiomyomas.Diagnostics (Basel, Switzerland) · 2025Article
- Glycolytic Reprogramming in Uterine Fibroids: Genetic, Transcriptomic, Proteomic, and Metabolomic Insights.Genes · 2025Review
- UTERINE FIBROIDS.Physiological reviews · 2025Review
- Review
- Clinicopathological and molecular features of so-called low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma: a study of 5 cases.Virchows Archiv : an international journal of pathology · 2025Article
- ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital.Acta neuropathologica communications · 2025Article
- Review
- Hypoxia in uterine fibroids: role in pathobiology and therapeutic opportunities.Oxygen (Basel, Switzerland) · 2024Article
- Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.Virchows Archiv : an international journal of pathology · 2024Article
- Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.Cancer prevention research (Philadelphia, Pa.) · 2024Article
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Authors and funding
24 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive renal carcinoma. Identification of HLRCC patients presenting first with uterine leiomyomas may allow early intervention for renal carcinoma. We reviewed the morphology and immunohistochemical (IHC) findings in patients with uterine leiomyomas and confirmed or presumed HLRCC. IHC was also performed on a tissue microarray of unselected uterine leiomyomas and leiomyosarcomas. FH-deficient leiomyomas underwent Sanger and massively parallel sequencing on formalin-fixed paraffin-embedded tissue. All 5 patients with HLRCC had at least 1 FH-deficient leiomyoma: defined as completely negative FH staining with positive internal controls. One percent (12/1152) of unselected uterine leiomyomas but 0 of 88 leiomyosarcomas were FH deficient. FH-deficient leiomyoma patients were younger (42.7 vs. 48.8 y, P=0.024) and commonly demonstrated a distinctive hemangiopericytomatous vasculature. Other features reported to be associated with FH-deficient leiomyomas (hypercellularity, nuclear atypia, inclusion-like nucleoli, stromal edema) were inconstantly present. Somatic FH mutations were identified in 6 of 10 informative unselected FH-deficient leiomyomas. None of these mutations were found in the germline. We conclude that, while the great majority of patients with HLRCC will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation. Although IHC screening for FH may have a role in confirming patients at high risk for hereditary disease before genetic testing, prospective identification of FH-deficient leiomyomas is of limited clinical benefit in screening unselected patients because of the relatively high incidence of somatic mutations.
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