The Role of Morphology in Predicting Fumarate Hydratase-deficient Uterine Leiomyomas in Young Women.

IF 1.3 4区 医学 Q3 ANATOMY & MORPHOLOGY
Aysel Bayram, Sidar Bagbudar, Hamdullah Sozen, Semen Onder, Ekrem Yavuz
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引用次数: 0

Abstract

Hereditary leiomyomatosis and renal cell carcinoma is caused by germline mutations in the fumarate hydratase (FH) gene and is associated with an increased incidence of leiomyomas and a potentially aggressive variant of renal cell carcinoma. Pathologic evaluation of uterine leiomyoma can provide an opportunity for early recognition of the syndrome. We reviewed all archived slides of the cases to identify the characteristic morphologic features described for FH-deficient leiomyomas. We performed immunohistochemistry on whole sections of patients with uterine leiomyoma to evaluate for both FH and 2-succinocysteine (2SC) expression. Of the 106 cases, 19 showed the characteristic eosinophilic nucleoli with perinuclear halos, and 24 revealed a characteristic eosinophilic cytoplasmic inclusion consisting of pink globules present within the cytoplasm. Both of these morphologic findings were present together in 15 cases, and hemangiopericytomatous vessels were detected in 23 cases. The loss of FH protein expression was detected in 14 out of 106 cases (13%), and 13 out of 106 cases (12%) were positive for 2SC. We detected 10 cases with both 2SC-positive and FH expression loss. The presence of eosinophilic nucleoli with perinuclear halos and eosinophilic cytoplasmic inclusion was associated with both loss of FH protein expression and 2SC positivity ( P < 0.001). These findings underscore the importance of hematoxylin and eosin-based predictive morphology in FH-deficient uterine leiomyomas. Therefore, morphologic assessment of uterine leiomyomas for features of FH deficiency can serve as a screening tool for hereditary leiomyomatosis and renal cell carcinoma syndrome, allowing patients to be divided according to their hereditary risk assessment.

形态学在预测年轻女性富马酸水合酶缺乏型子宫肌瘤中的作用。
遗传性平滑肌瘤病和肾细胞癌是由富马酸水合酶(FH)基因的种系突变引起的,并与平滑肌瘤的发病率增加和潜在的肾细胞癌侵袭性变体有关。子宫平滑肌瘤的病理学评估可以为早期识别该综合征提供机会。我们回顾了所有病例的存档幻灯片,以确定FH缺陷型平滑肌瘤的特征性形态学特征。我们对子宫平滑肌瘤患者的整个切片进行了免疫组织化学,以评估FH和2-琥珀酸(2SC)的表达。在106例病例中,19例显示具有核周晕的特征性嗜酸性核仁,24例显示由细胞质内存在的粉红色球组成的特征性酸性细胞质包涵体。15例同时出现这两种形态学表现,23例发现血管外皮细胞瘤血管。106例中有14例(13%)FH蛋白表达缺失,106例中13例(12%)2SC阳性。我们检测到10例同时存在2SC阳性和FH表达缺失的病例。嗜酸性核仁伴核周晕和嗜酸性细胞质包涵体的存在与FH蛋白表达和2SC阳性的丧失有关(P<0.001)。这些发现强调了基于苏木精和伊红的预测形态学在FH缺乏型子宫平滑肌瘤中的重要性。因此,对子宫平滑肌瘤进行FH缺乏特征的形态学评估可以作为遗传性平滑肌瘤病和肾细胞癌综合征的筛查工具,使患者能够根据其遗传风险评估进行分类。
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来源期刊
Applied Immunohistochemistry & Molecular Morphology
Applied Immunohistochemistry & Molecular Morphology ANATOMY & MORPHOLOGY-MEDICAL LABORATORY TECHNOLOGY
CiteScore
3.20
自引率
0.00%
发文量
153
期刊介绍: ​Applied Immunohistochemistry & Molecular Morphology covers newly developed identification and detection technologies, and their applications in research and diagnosis for the applied immunohistochemist & molecular Morphologist. Official Journal of the International Society for Immunohistochemisty and Molecular Morphology​.
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