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| Uterine leiomyoma with fumarate hydratase deficiency A case report with literature review
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D.Benrahhal, E.Ngalande, Y.Belhaj, fz Fdili Alaoui, S.Jayi ,H.Chaara, M.Y Melhouf.
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Abstract:
Uterine leiomyomas or uterine fibroids are the most common benign soft tissue tumor in reproductive-aged women. Fumarate hydratase deficient (FH-d) uterine fibroids are a rare subtype that is diagnosed only on pathologic evaluation. FH-d uterine fibroids may be the first indicator of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. Therefore, identifying and understanding the clinical implication and diagnosis of FH-d uterine fibroids is critical for early diagnosis of HLRCC. This case report describes a woman with a uterine leiomyoma diagnosed with FH deficiency who further went on genetic screening for HLRCC. Patient concerns: A 31-year-old nullipara in genital activity woman visited a gynecological clinic for abnormal uterine bleeding consisting of heavy menstrual periods In the last 6 moths . An echography was performed and the discovery one a large type 2-5 leiomyoma of 9*4cm in size. She had a history of surgery for uterine leiomyoma in 2018 and resection of a Bartholin cyst in 2019 . Diagnosis and Interventions: The patient underwent successful transabdominal myomectomy with resection of one large leiomyoma . The pathological results showed a uterine leiomyoma 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 nephrologists for follow-up and for genetic screening for HLRCC which came up negative.
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