ReviewOrphanet journal of rare diseases2021
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.
Review in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- A 23-year bibliometric analysis of the development of global research on hereditary renal carcinoma.Frontiers in oncology · 2024Pooled it
- Article
- Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.Hereditary cancer in clinical practice · 2026Article
- First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review.SAGE open medical case reports · 2026Article
- Skin cancer risk in hereditary mixed cancer syndromes.Hereditary cancer in clinical practice · 2025Review
- Risk Assessment and Fertility Counseling for Hereditary Gynecological Cancer Syndromes.Cancer medicine · 2025Review
- Bilateral, multicystic fumarate hydratase-deficient renal cell carcinoma in patient with hereditary leiomyomatosis & renal cell carcinoma syndrome: A case report and review of the literature.Diagnostic pathology · 2025Review
- Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer After Subcapsular Renal Hematoma.IJU case reports · 2025Article
- Hereditary Leiomyomatosis and Renal Cell Cancer in a Patient With Isolated Uterine Leiomyomas.O&G open · 2025Article
- Painful pink papules and nodules presenting in a Blaskoid distribution.JAAD case reports · 2025Article
- Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology.Virchows Archiv : an international journal of pathology · 2025Review
- Identifying Hereditary Leiomyomatosis and Renal Cell Cancer through Unobtrusive Cutaneous Nodules: A Clinical Report.Journal of kidney cancer and VHL · 2025Article
- Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer.Pathology oncology research : POR · 2025Article
- Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.The Journal of clinical endocrinology and metabolism · 2024Article
- Ferroptosis: a promising target for fumarate hydratase-deficient tumor therapeutics literature review.Translational cancer research · 2024Review
- Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.Orphanet journal of rare diseases · 2024Article
- Unusual Cutaneous Lesions in a 53-Year-Old Female: A Potential Indicator of Underlying Renal Cell Carcinoma.Cureus · 2023Article
- Investigating Fumarate Hydratase-Deficient Uterine Fibroids: A Case Series.Journal of clinical medicine · 2023Article
- Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.The Journal of clinical investigation · 2023Article
- Navigating the Current Landscape of Non-Clear Cell Renal Cell Carcinoma: A Review of the Literature.Current oncology (Toronto, Ont.) · 2023Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are presented with a compiled database of published HLRCC cases to increase understanding of HLRCC. Furthermore, a surveillance program is suggested. Our review is based on a PubMed search which retrieved case reports and cohort studies published before November 2019. The search yielded 97 original papers with a total of 672 HLRCC patients.
resultsCLMs were present in 474 patients (71.5%), developed at the mean age of 28 years. Five patients had cutaneous leiomyosarcomas. ULMs were present in 356 women (83%), while two had uterine leiomyosarcoma. ULMs were diagnosed at a mean age of 32 years, with the youngest diagnosed at age 17 years. The most common surgical treatment for ULMs was hysterectomy, performed at a mean age of 35 years, with the youngest patient being 19 years old. RCCs were present in 189 patients (34.9%), of which half had metastatic disease. The mean age of diagnosis was 36 years with the youngest patient diagnosed with RCC at the age of 11 years.
conclusionWe suggest a surveillance program for HLRCC including a dermatological examination once every 2 years, annual magnetic resonance imaging starting at the age of 10 years to monitor for early RCCs, annual gynecological examinations from the age of 15 years and counseling regarding risk of hysterectomy and family planning at the age of 18 years. CLMs are often the earliest manifestation of HLRCC, which is why recognizing these lesions, performing a biopsy, and making a prompt referral to genetic counseling is important in order to diagnose HLRCC early.
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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.