Fumarate hydratase (FH) deficiency leiomyoma
曹登峰
更新时间:2019-01-07 11:04:16
概述:
发病部位:子宫
诊断要点:
1. 间质水肿,血管呈鹿角样和裂隙样
2. 细胞密度大,细胞核有异型(轻至中度),核仁明显犹如病毒包涵体,核仁周围有透亮区域
3. 细胞质内有嗜酸性小球以及纤维丝样的嗜酸性细胞质
4. 核分裂像很少
免疫组织化学染色:
分子标记:
鉴别诊断:
伴有核异型的平滑肌瘤
恶性潜能未定的平滑肌肿瘤
预后:
治疗:
参考文献:
1. Sanz-Ortega J et al. Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. Am J Surg Pathol. 2013 Jan;37(1):74-80.
2. Joseph NM et al. Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients. Am J Surg Pathol. 2015 Nov;39(11):1529-39.
3. Harrison et al. Fumarate Hydratase–deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. Am J Surg Pathol 2016 May; 40(5): 599–607.