• Yan Huang, Yan Zhou, Xing Chen, Qin Fang, Huiran Cai, Manxin Xie, and Yan Xing.
• Department of Women Health, Zhangqiu Women and Children Health Hospital, Zhangqiu District, Ji'nan, China.
• Medicine (Baltimore). 2021 Dec 10; 100 (49): e28142.

RationaleHereditary 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 ConcernsA 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 InterventionsThe 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.OutcomesOn follow-up, the patient did not have any complications. She was finally referred to the oncologists and urologists for follow-up.LessonsGynecologists should be aware that early onset uterine leiomyoma presenting as large, multiple, and symptomatic lesion, may be associated with FH deficiency.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

30 keywords...

hide…