ArticleBMC medical genetics2017
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Uterine Leiomyomas with Specific Histology Features of Two Fumarate Hydratase/Succinate Dehydrogenase-Deficient Tumors: A Double Case Report.Medicina (Kaunas, Lithuania) · 2024Article
- Unusual Cutaneous Lesions in a 53-Year-Old Female: A Potential Indicator of Underlying Renal Cell Carcinoma.Cureus · 2023Article
- Phenotypic and Genetic Complexity in Pediatric Movement Disorders.Frontiers in genetics · 2022Article
- Article
- Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.Medicines (Basel, Switzerland) · 2020Review
- Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research.Seminars in cancer biology · 2020Review
- Oncometabolites in renal cancer.Nature reviews. Nephrology · 2020Review
- Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings.Molecular genetics & genomic medicine · 2020Article
- Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.JAMA oncology · 2018Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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Abstract
backgroundFumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC). CASE PRESENTATION: Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment.
conclusionWhile the theoretical risk of kidney cancer in parents of children with recessive fumarate hydratase deficiency is well recognized, to our knowledge this is the first report of a kidney tumour being detected in a parent by screening performed for this indication. This underscores the importance of offering lifelong kidney surveillance to such parents and other heterozygous relatives of children born with fumarate hydratase deficiency.
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