Brunet Anaïs, Verkarre Virginie, Le Frère Belda Marie-Aude
Hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France.
Hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France.
Ann Pathol. 2020 Apr;40(2):180-184. doi: 10.1016/j.annpat.2020.02.021. Epub 2020 Mar 16.
Fumarate hydratase (FH)-deficient uterine leiomyomas represent 1% of all uterine leiomyomas. They show distinctive morphology, and are often associated with a loss of expression of FH protein, secondary to the inactivation of the FH gene. They can occur sporadically or in the hereditary setting of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome associated with germline mutations of FH gene. So, it is relevant to consider this diagnosis in case of young women with numerous or bulky leiomyomas and evocative microscopic features, in particular at nuclear level. Genetic screening is essential to identify hereditary forms, which require appropriate surveillance and genetic screening of relatives. Here, we report the case of a 20cm uterine leiomyoma in a young 32-year-old woman, whose morphologic and immunohistochemical characteristics were suggestive of FH-deficient leiomyoma.
富马酸水合酶（FH）缺陷型子宫平滑肌瘤占所有子宫平滑肌瘤的1%。它们具有独特的形态，并且常常由于FH基因的失活而导致FH蛋白表达缺失。它们可散发性出现，或发生于与FH基因种系突变相关的遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征的遗传背景中。因此，对于患有多个或巨大平滑肌瘤且具有提示性微观特征（特别是在核水平）的年轻女性，考虑这一诊断具有重要意义。基因筛查对于识别遗传性类型至关重要，遗传性类型需要对亲属进行适当的监测和基因筛查。在此，我们报告一例32岁年轻女性的20cm子宫平滑肌瘤病例，其形态学和免疫组化特征提示为FH缺陷型平滑肌瘤。
