Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer
| Autor: | Bruce R. Carr, Edward D. Tarnawa, Merry Lynn Mann, Mohammad Ezzati |
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| Rok vydání: | 2015 |
| Předmět: |
Genetic Markers
Male Heterozygote medicine.medical_specialty Gene mutation medicine.disease_cause Fumarate Hydratase Young Adult Leiomyomatosis Internal medicine Carcinoma Humans Medicine Genetic Predisposition to Disease Family history Carcinoma Renal Cell Mutation Uterine leiomyoma business.industry Obstetrics and Gynecology Heterozygote advantage medicine.disease Kidney Neoplasms Pedigree Endocrinology Codon Nonsense Fumarase Uterine Neoplasms Cancer research Female business |
| Zdroj: | Obstetrics & Gynecology. 126:90-92 |
| ISSN: | 0029-7844 |
| Popis: | Heterozygous gene mutations in fumarate hydratase can result in a syndrome characterized by hereditary (cutaneous and uterine) leiomyomatosis and renal cell cancer. This disorder has been described in more than 200 families, but the prevalence of the disease is unknown.A 22 year-old woman of Bangladeshi lineage presented with menorrhagia and pelvic pain secondary to uterine leiomyomas and underwent an abdominal myomectomy. Because of a family history of renal cell cancer, she was tested for fumarate hydratase mutations and found to be a carrier. As a result of the risk of renal cell cancer associated with this mutation, an annual surveillance plan was initiated.Fumarate hydratase gene mutations should be considered in women presenting with leiomyomas and a family history of renal cancer. |
| Databáze: | OpenAIRE |
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