Objective:

To report a case of fumarate hydratase-deficient uterine leiomyoma and review existing literature on its characteristics and management.

Approach:

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Key Findings:

• FH-deficient uterine leiomyomas account for approximately 1%-2% of all uterine leiomyomas.
• These tumors exhibit distinctive histopathological features and are associated with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.
• The patient had a family history of uterine fibroids and experienced rapid recurrence of leiomyomas post-myomectomy.

Interpretation:

FH-deficient uterine leiomyoma should be suspected in young women with large, recurrent, hypervascular leiomyomas and a family history of fibroids.

Limitations:

• The patient declined genetic testing despite recommendations for FH genetic testing and lifelong surveillance.

Conclusion:

Early immunohistochemical screening for FH/2SC and genetic counseling are important for managing suspected HLRCC risk.