TITLE:
Fumarate Hydratase-Deficient Uterine Leiomyoma with Bizarre Nuclei in a 32-Year-Old Woman: “Diagnostic and Genetic Implications”
AUTHORS:
Divyesh V. Shukla, Shilpi D. Shukla, Shivani Shukla, Vinayak Dave
KEYWORDS:
Case Report, Leiomyoma, Fibroid, LM BN, FH-Deficient, Variant of Unknown Clinical Significance (VUS), Somatic and Genetic Mutation
JOURNAL NAME:
Open Journal of Obstetrics and Gynecology,
Vol.15 No.9,
September
10,
2025
ABSTRACT: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome is a rare autosomal dominant genetic disorder, also known as Reed syndrome, and is caused by germline mutations in the fumarate hydratase (FH) gene. It is characterized by a triad of features “cutaneous leiomyomas, uterine leiomyomas and renal cell cancer”. These patients present at a young age with complaints of menorrhagia and abdominal pain. (1) With full FH deficiency, there is severe neurological impairment, ventriculomegaly, cortical dysplasia, or cysts. Survival beyond childhood is not possible. We present a case report of a 32-year-old female with countless fibroids who underwent total laparoscopic hysterectomy (TLH) with bilateral salpingectomy for complaints of menorrhagia, lower abdominal heaviness, and pain. The histopathological (HP) report was leiomyoma with bizarre nucleus (LM BN). On IHC, the final report was FH-deficient leiomyoma. This case is an addition to the few case reports of FH-deficient leiomyoma reported in the literature. This case is unique as, from 23 years of age onwards, she had undergone two laparoscopic myomectomies, two lower segment caesarean section (LSCS), and a final TLH at 32 years of age. The HP report was normal in the first myomectomy specimen, but in the second and third specimens of surgery, LM BN histopathology was reported with the immunohistochemistry (IHC) result of the FH-deficient type.