ReviewFamilial cancer2014
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.
Review in Familial cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 156 papers, 5 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
156 citing papers in PubMed, 5 syntheses or guidelines pooled it, 349 citations in OpenAlex.
- Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.Human genomics · 2025Pooled it
- Kidney Cancer, Version 3.2022, NCCN Clinical Practice Guidelines in Oncology.Journal of the National Comprehensive Cancer Network : JNCCN · 2022Guideline
- 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
- NCCN Guidelines Insights: Kidney Cancer, Version 1.2021.Journal of the National Comprehensive Cancer Network : JNCCN · 2020Guideline
- Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.European urology · 2019Pooled it
- Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework.European journal of human genetics : EJHG · 2026Article
- Pathology-Driven Diagnosis of Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Clinicopathological and Genetic Analysis of Three Cases.IJU case reports · 2026Article
- Clinical characteristics and follow-up of 77 patients with pathogenic fumarate hydratase variants.BJU international · 2026Article
- Article
- The clinical landscape of HIF2α inhibitors in oncology.Nature reviews. Clinical oncology · 2026Review
- HIF-1α Signaling in Uterine Fibroids: A Central Integrator of Hypoxic, Hormonal, and Fibrotic Pathways.Oxygen (Basel, Switzerland) · 2026Article
- Painful cutaneous nodules with a history of uterine fibroids.JAAD case reports · 2026Article
- Hereditary syndromes and RCC: what radiologists need to know.Abdominal radiology (New York) · 2026Review
- Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.Hereditary cancer in clinical practice · 2026Article
- Is Open Partial Nephrectomy Still an Option in the Robotic Era?Current urology reports · 2026Review
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Accuracy of Magnetic Resonance Spectroscopy-Detected Fumarate Peak for Diagnosing Fumarate Hydratase Deficiency in Uterine Leiomyomas: A Prospective Study.Korean journal of radiology · 2026Article
- Characterization of complex renal cysts in hereditary leiomyomatosis and renal cell cancerUsing magnetic resonance based qualitative features.Abdominal radiology (New York) · 2026Article
- FH-deficient uterine leiomyoma: A rare case report highlighting diagnostic and clinical challenges.Radiology case reports · 2026Article
- Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.Familial cancer · 2026Review
96 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 7 institutions in 5 countries.
Funding
Abstract
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition in which susceptible individuals are at risk for the development of cutaneous leiomyomas, early onset multiple uterine leiomyomas and an aggressive form of type 2 papillary renal cell cancer. HLRCC is caused by germline mutations in the fumarate hydratase (FH) gene which inactivate the enzyme and alters the function of the tricarboxylic acid (Krebs) cycle. Issues surrounding surveillance and treatment for HLRCC-associated renal cell cancer were considered as part of a recent international symposium on HLRCC. The management protocol proposed in this article is based on a literature review and a consensus meeting. The lifetime renal cancer risk for FH mutation carriers is estimated to be 15 %. In view of the potential for early onset of RCC in HLRCC, periodic renal imaging and, when available, predictive testing for a FH mutation is recommended from 8 to 10 years of age. However, the small risk of renal cell cancer in the 10-20 years age range and the potential drawbacks of screening should be carefully discussed on an individual basis. Surveillance preferably consists of annual abdominal MRI. Treatment of renal tumours should be prompt and generally consist of wide-margin surgical excision and consideration of retroperitoneal lymph node dissection. The choice for systemic treatment in metastatic disease should, if possible, be part of a clinical trial. Screening procedures in HLRCC families should preferably be evaluated in large cohorts of families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.