富马酸酶缺乏性子宫平滑肌瘤：一例罕见病例及手术创新
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
作者信息
Lee Hong, Shafiezadeh Saman, Singh Rajeev
机构信息
Department of Obstetrics and Gynaecology, Joondalup Health Campus, Joondalup, WA, Australia.
Department of Obstetrics and Gynaecology, Fiona Stanley Hospital, Murdoch, WA, Australia.
出版信息
J Surg Case Rep. 2020 Mar 17;2020(3):rjaa044. doi: 10.1093/jscr/rjaa044. eCollection 2020 Mar.
Abstract
We report a case of a 47-year-old female, with strong preoperative clinical and radiological suspicious of uterine leiomyosarcoma who underwent a total abdominal hysterectomy. Despite the final histology concluded as benign uterine leiomyoma, the loss of fumarate hydratase expression of the same specimen still put her at risk of having hereditary leiomyomatosis and renal cell carcinoma syndrome. Intraoperatively, an obstetric vacuum cup was used for uterine manipulation to avoid breaching of the uterine serosa.
摘要
我们报告了一例47岁女性病例，术前临床和影像学高度怀疑为子宫平滑肌肉瘤，该患者接受了全腹子宫切除术。尽管最终组织学结果为良性子宫平滑肌瘤，但同一标本中富马酸水合酶表达缺失仍使她有患遗传性平滑肌瘤病和肾细胞癌综合征的风险。术中，使用产科吸杯进行子宫操作以避免子宫浆膜破裂。
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