Investigating Fumarate Hydratase-Deficient Uterine Fibroids: A Case Series.

Area of Science:

• Gynecologic Pathology
• Oncology
• Medical Genetics

Background:

• Uterine leiomyomas (fibroids) are common in reproductive-aged women.
• Fumarate hydratase-deficient (FH-d) uterine fibroids are a rare subtype.
• FH-d fibroids can be the initial sign of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.

Observation:

• This case series reviewed five patients with FH-d uterine fibroids over ten years.
• Evaluated clinical manifestations, diagnostic imaging, and histopathological features.
• All diagnoses were confirmed pathologically post-surgical treatment.

Findings:

• Pathologic evaluation is essential for diagnosing FH-d uterine fibroids.
• Histopathological features are key for detection.
• Gynecologists and pathologists must recognize suspicious findings.

Implications:

• Early identification of FH-d fibroids facilitates prompt HLRCC diagnosis.
• Suspicious histopathology warrants germline genetic testing referral.
• Management requires a multidisciplinary approach with genetic screening and surveillance for renal tumors.