PDF(Pubmed)
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 series investigates the uncommon yet significant condition of FH-d uterine fibroids. We examined the clinical manifestation, diagnostic imaging, and histopathological characteristics of FH-d uterine fibroids in five cases identified at our institution over the last ten years. All diagnoses were confirmed by pathologic evaluation after surgical treatment. Gynecologists and pathologists play a critical role in the early diagnosis of FH-d uterine fibroids and must recognize the relevant clinical and pathologic findings that raise suspicion about this diagnosis. The detection of these cases is largely dependent on the pathologist\'s ability to recognize unique histopathologic features. Once these characteristics are identified, it should prompt a referral to a gynecologist to consider conducting germline genetic testing. The management of FH-d uterine fibroids necessitates a multidisciplinary approach, including proper genetic screening and regular surveillance, especially for renal tumors.
摘要：
子宫平滑肌瘤或子宫肌瘤是育龄妇女中最常见的良性软组织肿瘤。富马酸水合酶缺陷（FH-d）子宫肌瘤是一种罕见的亚型，仅在病理评估时才被诊断出来。FH-d子宫肌瘤可能是遗传性平滑肌瘤和肾细胞癌（HLRCC）综合征的首要指标。因此,识别和了解FH-d子宫肌瘤的临床意义和诊断对HLRCC的早期诊断至关重要。本病例系列研究了FH-d子宫肌瘤的罕见但重要的状况。我们检查了临床表现，诊断成像,和FH-d子宫肌瘤的组织病理学特征在我们机构在过去十年中发现的5例。所有诊断均在手术治疗后通过病理评估证实。妇科医生和病理学家在FH-d子宫肌瘤的早期诊断中起着至关重要的作用，并且必须认识到相关的临床和病理发现，这些发现引起了对该诊断的怀疑。这些病例的检测很大程度上取决于病理学家识别独特组织病理学特征的能力。一旦这些特征被识别，它应该促使转介妇科医生考虑进行种系基因检测。FH-d子宫肌瘤的管理需要多学科的方法，包括适当的基因筛查和定期监测，尤其是肾肿瘤.
