Fumarate hydratase-deficient uterine leiomyoma: A rare case report and literature review - Report - MDSpire

Fumarate hydratase-deficient uterine leiomyoma: A rare case report and literature review

  • By

  • Qiang Wang

  • Yanqing Li

  • Yanshe Shao

  • Ying Chen

  • Hui Ren

  • Xia Ji

  • Jinying Fu

  • June 24, 2026

  • 0 min

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Clinical Report: Fumarate Hydratase-Deficient Uterine Leiomyoma Case Study

Background

Uterine leiomyomas are the most prevalent benign tumors in the female reproductive system, with fumarate hydratase (FH)-deficient leiomyomas representing a rare subtype. These tumors are associated with specific histopathological features and may indicate a hereditary risk for renal cell carcinoma.

Data Highlights

No numerical data provided in the article.

Key Findings

  • FH-deficient uterine leiomyomas account for approximately 1%-2% of all uterine leiomyomas.
  • Patients typically present with multiple, large, recurrent leiomyomas, often at a younger age.
  • Histopathological examination can reveal distinctive features such as increased cellularity and mitotic activity.
  • Immunohistochemistry is essential for confirming FH deficiency.
  • Familial clustering of uterine fibroids may indicate a hereditary syndrome.

Clinical Implications

Clinicians should consider FH-deficient uterine leiomyoma in young women with large, recurrent fibroids, especially in the context of family history.

Conclusion

The case illustrates the complexities of diagnosing and managing FH-deficient uterine leiomyomas.

Related Resources & Content

  1. Frontiers in Reproductive Health, 2026 -- Case Report: Bartholin’s gland leiomyoma masquerading as a bartholin’s cyst: a rare clinical entity and diagnostic challenges
  2. Frontiers in Oncology, 2026 -- A rare and massive retroperitoneal leiomyoma: a case report
  3. Frontiers in Medicine, 2026 -- Mesonephric-like adenocarcinoma of the uterine corpus: a case report
  4. Uterine Fibroids - PMC, 2025 -- Definition, pathologic features, and diagnostic workup
  5. 2025 ESGO Pocket Guidelines for uterine sarcomas
  6. Frontiers in Medicine — Clinical and pathological characteristics, diagnosis, and surgical treatment of uterine angioleiomyoma: a retrospective cohort study
  7. Uterine Fibroids - PMC
  8. https://www.esgo.org/media/2025/03/Pocket-Guidelines_UTERINE-sarcomas_tisk.pdf
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  11. Managing renal cell carcinoma in people with a heritable renal cell carcinoma predisposition syndrome | Kidney cancer: diagnosis and management | Guidance | NICE
  12. European Association of Urology Guidelines on Renal Cell Carcinoma: The 2025 Update - ScienceDirect

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