Khan Anam, Shafqat Gulnaz, Hassan Ayesha, Pathan Hina, Qaiser Fatima
Radiology Department Aga Khan University Hospital, Pakistan.
Radiol Case Rep. 2025 Aug 28;20(11):5724-5729. doi: 10.1016/j.radcr.2025.08.007. eCollection 2025 Nov.
Fumarate hydratase (FH) deficient uterine leiomyomas account for only 0.4 % of all uterine leiomyomas. They have some unique histological characteristics and can be linked to renal cell carcinoma (HLRCC) syndrome and hereditary leiomyomatosis. Only pathologic investigation can identify the uncommon subtype of uterine fibroids known as fumarate hydratase-deficient (FH-d) fibroids. The earliest sign of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome could be FH-d uterine fibroids. A young female in her 30s presented to the endocrinology clinic at a tertiary care hospital for a subfertility consultation. She had a history of poorly controlled hypertension. She reported having regular menstrual cycles lasting 28 days, with no complaints of menstrual irregularity or weight loss. Additionally, she had no prior pregnancy or history of spontaneous abortions. Imaging demonstrated a large subserosal fibroid with normal ovaries. After a loss of follow-up for approximately 2 years, the patient presented to the emergency department with a complaint of non-radiating epigastric pain for 1.5 months which was aggravating with time and became the cause of her acute presentation. Additionally, she also complained of interval development of a cutaneous nodule in the right inguinal region and a soft bulge around the umbilicus. This time imaging redemonstrated subserosal fibroid but with atypical features. The lesion showed ill-defined margins and heterogenous enhancement. Associated mild ascites which seems to be increased in magnitude from prior examination, mild omental stranding, and right-sided pleural effusion. Based on these findings, the possibility of malignant transformation was raised. Patient after a multidisciplinary consensus was scheduled for surgical resection. Post-surgical biopsy revealed a FH-deficient leiomyoma with no evidence of necrosis. The excised skin lesion showed features of fibroepithelial growth. Due to the lack of specific radiographic features, a FH enzyme-deficient fibroid, also known as an FH-deficient uterine leiomyoma, usually appears as a normal-looking uterine fibroid on imaging. However, clinical presentations such as early onset, multiple large fibroids, skin lesions, or a family history of renal cell carcinoma may raise suspicion for additional investigation and genetic testing to confirm FH deficiency.
富马酸水合酶（FH）缺乏的子宫平滑肌瘤仅占所有子宫平滑肌瘤的0.4%。它们具有一些独特的组织学特征，并且可能与肾细胞癌（HLRCC）综合征和遗传性平滑肌瘤病有关。只有病理检查才能识别出这种罕见的子宫肌瘤亚型，即富马酸水合酶缺乏（FH-d）肌瘤。遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征的最早迹象可能是FH-d子宫肌瘤。一名30多岁的年轻女性到一家三级护理医院的内分泌科门诊进行不孕症咨询。她有高血压控制不佳的病史。她报告月经周期规律，持续28天，没有月经不规律或体重减轻的主诉。此外，她既往没有怀孕或自然流产史。影像学检查显示一个大的浆膜下肌瘤，卵巢正常。在失访约2年后，患者因上腹部非放射性疼痛1.5个月就诊于急诊科，疼痛随时间加重，成为她急性就诊的原因。此外，她还主诉右腹股沟区出现一个皮肤结节以及脐周出现一个软性肿块。此次影像学检查再次显示浆膜下肌瘤，但具有非典型特征。病变边界不清，强化不均匀。伴有轻度腹水，似乎比之前检查时增多，轻度网膜条索状改变以及右侧胸腔积液。基于这些发现，提出了恶性转化的可能性。经过多学科会诊后，患者被安排进行手术切除。术后活检显示为FH缺乏的平滑肌瘤，无坏死证据。切除的皮肤病变显示为纤维上皮生长特征。由于缺乏特异性的影像学特征，FH酶缺乏的肌瘤，也称为FH缺乏的子宫平滑肌瘤，在影像学上通常表现为外观正常的子宫肌瘤。然而，诸如发病早、多个大肌瘤、皮肤病变或肾细胞癌家族史等临床表现可能会引起怀疑，需要进一步检查和基因检测以确认FH缺乏。
