Uterine leiomyoma with fumarate hydratase deficiency: A case report.

Content Provider	Europe PMC
Author	Huang, Yan Zhou, Yan Chen, Xing Fang, Qin Cai, Huiran Xie, Manxin Xing, Yan
Editor	Saranathan., Maya
Copyright Year	2021
Abstract	AbstractRationale:Hereditary leiomyomatosis and renal cell carcinoma is an uncommon autosomal dominant disease caused by mutations in the fumarate hydratase (FH) gene. They usually demonstrated multiple uterine myomas and preformed surgical procedures for myomectomy and/or hysterectomy 10 years earlier than sporadic myomas due to early development. This case report describes a woman with multiple uterine leiomyomas diagnosed with FH deficiency.Patient concerns:A 37-year-old woman visited a gynecological clinic for the discovery of uterine leiomyoma for more than 1 year. The size of the largest grew from 42 × 27 × 46 to 98 × 85 × 113 mm in 1 year. She had a history of surgery for breast cancer and thyroid cancer but denied a history of uterine leiomyoma in her family.Diagnosis and Interventions:The patient underwent successful transabdominal hysterectomy. The pathological results showed multiple uterine leiomyomas (partly cellular leiomyomas) with scattered large bizarre giant cells. Immunohistochemistry results demonstrated FH deficiency.Outcomes:On follow-up, the patient did not have any complications. She was finally referred to the oncologists and urologists for follow-up.Lessons:Gynecologists should be aware that early onset uterine leiomyoma presenting as large, multiple, and symptomatic lesion, may be associated with FH deficiency.
ISSN	00257974
Journal	Medicine
Volume Number	100
PubMed Central reference number	PMC8663909
Issue Number	49
PubMed reference number	34889279
e-ISSN	15365964
DOI	10.1097/md.0000000000028142
Language	English
Publisher	Lippincott Williams & Wilkins
Publisher Date	2021-12-01
Publisher Place	Hagerstown, MD
Access Restriction	Open
Rights License	This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.
Subject Keyword	cutaneous leiomyomas fumarate hydratase leiomyoma succinate dehydrogenase type 2 papillary renal cell carcinoma
Content Type	Text
Resource Type	Article
Subject	Medicine