ArticleFamilial cancer2012
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 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
- 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
- Bilateral fumarate hydratase deficient renal cell carcinoma in a patient with hereditary leiomyomatosis and renal cell cancer syndrome.IJU case reports · 2024Article
- Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis.Journal of oncology · 2020Review
- Palpable Abdominal Mass is a Renal Oncocytoma: Not All Large Renal Masses are Malignant.Case reports in urology · 2019Article
- Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach.BMJ case reports · 2017Article
- A Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma.Case reports in dermatological medicine · 2016Article
- Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.Familial cancer · 2014Review
- Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).Familial cancer · 2014Review
- Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.BMC urology · 2013Article
- SkIndia Quiz 19: Soft tumors in segmental fashion.Indian dermatology online journalArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a hereditary condition which typically presents with cutaneous and uterine leiomyomata. Papillary type II renal cell carcinoma and other less common histologic subtypes of renal cancer have been reported in HLRCC. We describe the case of a 31-year-old man in which the pathology review of his renal carcinoma and a positive family history of renal carcinoma allowed for the identification of a pathogenic mutation in the FH gene (c.698G>A;p.R233H) confirming the diagnosis of HLRCC. Recognition of this syndrome allowed for appropriate surveillance as well as identification of at-risk family members. Pathology review is essential for accurate diagnosis of a hereditary cancer syndrome in the setting of familial renal cancer.
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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.