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Fumarate hydratase mutation associated uterine leiomyomas: A case report and literature review - PubMed

  • ️Mon Jan 01 2024

Case Reports

. 2024 Apr 7;12(4):e8526.

doi: 10.1002/ccr3.8526. eCollection 2024 Apr.

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Case Reports

Fumarate hydratase mutation associated uterine leiomyomas: A case report and literature review

Junyan Zhu et al. Clin Case Rep. 2024.

Abstract

The patient was found to have multiple uterine myomas at the age of 19, underwent laparoscopic myomectomy at the age of 20, and underwent laparotomic myomectomy again at the age of 23 due to the recurrence of uterine myoma. At the age of 25, the patient reappeared with symptoms and recurrence, and was diagnosed with uterine leiomyomas (ULMs) of FH mutation and high-grade squamous intraepithelial lesion (HSIL/CIN III) with gland involvement, after complete examination. Fumarate hydratase (FH) mutation screening is important when gynecologists encounter patients with early onset and multiple ULMs, it can give early diagnosis and treatment and fertility guidance. The patient had their uterus removed at the age of 26. FH mutation screening is important when gynecologists encounter patients with early onset and multiple ULMs, it can give early diagnosis and treatment and fertility guidance. It is also helpful for early diagnosis of renal cell carcinoma.

Keywords: Reed's syndrome; case report; fumarate hydratase; gene mutation; hereditary leiomyomatosis and renal cell carcinoma; uterine leiomyomas.

© 2024 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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Conflict of interest statement

None of the authors have any conflict of interest to report.

Figures

FIGURE 1
FIGURE 1

Magnetic resonance imaging (MRI) before hysterectomy. (A) Axial fat‐saturated precontrast T1‐weighted image showing intermediate signal intensity foci. (B) Axial T2‐weighted image showing intermediate and hypointense foci. (C) Axial fat‐saturated T2‐weighted image showing intermediate and hypointense foci. (D) Axial fat‐saturated postcontrast T1‐weighted image showing inhomogenous enhancement of the foci and lower signal intensity of the foci compared to the myometrium. (E) Sagittal fat‐saturated postcontrast T1‐weighted image showing inhomogenous enhancement of the foci and lower signal intensity of the foci compared to the myometrium. (F) Coronal T2‐weighted image showing normal kidney.

FIGURE 2
FIGURE 2

Laparoscopic findings. (A) The uterus was enlarged, such as the size of 3 months of pregnancy. (B) The appearance of the double accessories was normal, and all of them adhered to the peritoneum, and extensive adhesion of the bowel.

FIGURE 3
FIGURE 3

Pathological features of FH mutation ULMs. It displayed well circumscribed, fascicular tumors with increased cellularity, nuclear atypia, and occasional mitoses. (A) Staghorn vessels at 40× original magnification. (B) Fibrillary cytoplasm at 100× original magnification. (C) Eosinophilic globules at 400× original magnification. (D) IHC by 2SC staining positive at 100× original magnification.

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