ArticleF&S reports2022
How a woman's myomectomy saved her father's life: evidence of fumarate hydratase-deficient uterine leiomyoma and early detection of germline variants in fumarate hydratase.
Article in F&S reports, 2022. 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, 11 citations in OpenAlex.
- Ferroptosis: a promising target for fumarate hydratase-deficient tumor therapeutics literature review.Translational cancer research · 2024Review
- FH deficient uterine leiomyomas-a case series.Heliyon · 2024Article
- Case report: A healthy baby achieved after preimplantation genetic testing from an infertile woman with hereditary leiomyomatosis and renal cell cancer syndrome.Frontiers in medicine · 2024Article
- A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas.F&S reports · 2023Article
- Investigating Fumarate Hydratase-Deficient Uterine Fibroids: A Case Series.Journal of clinical medicine · 2023Article
- The Waldo of fibroids under the microscope: fumarate hydratase-deficient leiomyomata.F&S reports · 2022Article
- Reply of the Authors: The Waldo of fibroids under the microscope: fumarate hydratase-deficient leiomyomata.F&S reports · 2022Article
- A simplistic approach to fibroids is outdated.F&S reports · 2022Article
- Fumarase Deficiency and Its Effect on Infertility: A Case Series.Journal of reproduction & infertilityArticle
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: To describe a case of a personal and family history of early uterine leiomyomatosis that revealed a pathogenic variant in the Design: A case report of autosomal dominant hereditary leiomyomatosis and renal cell cancer syndrome where the patient underwent 2 cycles of in vitro fertilization with preimplantation genetic testing for monogenic disease/aneuploidy (PGT-MA) that resulted in 3 unaffected, euploid embryos. Setting: Large academic single-center hospital. Patients: A 35-year-old nulligravida woman with a personal history of an early-onset uterine leiomyomatosis and a family history of renal cell carcinoma and uterine leiomyomas, who is heterozygous for a pathogenic variant in Interventions: Two laparoscopic myomectomies were performed, and tissue was sent for histopathology and immunostaining. Hereditary leiomyomatosis and renal cell cancer syndrome was confirmed by germline testing, and 2 cycles of PGT-MA were performed. Main Outcome Measures: Through PGT-MA, the patient was able to mitigate the risk of passing a known familial variant to her future children. Results: After 2 cycles of in vitro fertilization with PGT-MA, 3 unaffected embryos were available for transfer. An unaffected, euploid embryo was transferred for pregnancy, and the patient is currently pregnant in her second trimester. Conclusions: Pathogenic variants in
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