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Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
来自遗传性平滑肌瘤病和肾细胞癌综合征 (HLRCC) 女性的肌瘤切除术和子宫切除术标本的详细形态学和免疫组织化学表征。


Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC), caused by a germline mutation in the fumarate hydratase (FH) gene, predisposes patients to uterine and cutaneous smooth muscle tumors and an aggressive type of renal cell carcinoma. Almost all women with HLRCC develop symptomatic uterine leiomyomas resulting in surgery at young ages, presenting an ideal opportunity for early detection of these patients and the implementation of surveillance measures for renal cell carcinoma. FH-deficient uterine leiomyomas can show characteristic morphologic features (FH-d morphology) that have been previously described. Immunohistochemistry (IHC) for FH can also be helpful in detecting FH deficiency in leiomyomas, which manifests as complete loss of staining for FH. However, the distribution and topography of FH-d morphology and FH loss by IHC in the context of multiple leiomyomas in patients with HLRCC has not been evaluated. The aim of this study is to describe in detail the clinical and pathologic characteristics of uterine leiomyomas from women with HLRCC. Six patients with proven FH germline mutations were included. All available slides were reviewed and FH IHC staining was performed on multiple blocks when possible. Clinical data were extracted from online medical records. All 6 patients presented with symptomatic uterine fibroids and underwent myomectomy (age 24 to 36 y), followed by hysterectomy in 2 patients (age 31 and 40 y). Specimens showed conventional leiomyomas, cellular leiomyomas and leiomyomas with bizarre nuclei. FH-d morphology was present in leiomyomas from all patients and was typically observed as a diffuse finding in the majority of slides across different leiomyoma types. FH-d morphology was absent in some leiomyoma sections from one patient and the morphologic features were focal and subtle in leiomyomas from 2 patients. Both hysterectomy specimens were also notable for showing scattered irregular tongues and nodules of smooth muscle proliferation (leiomyomatosis-like) in the background myometrium. Immunohistochemical staining of multiple slides per patient for FH showed either retained staining in all sections (2/6 cases), loss of staining in all sections (1 case) or variable staining across different leiomyomas (3 cases). In conclusion, patients with HLRCC undergo surgery at young ages for highly symptomatic uterine leiomyomas. FH-d morphology is usually a diffuse and well developed finding across different leiomyomas but may be absent or focal and subtle. FH IHC can show variable results and presence of retained FH staining should not be used to exclude the possibility of HLRCC. Referral for genetic counselling and testing should be considered in a young patient with uterine leiomyomas showing FH-d morphology even if immunohistochemical staining for FH is retained.


遗传性平滑肌瘤病和肾细胞癌综合征 (HLRCC),由富马酸水合酶 (FH) 基因的种系突变引起, 易患子宫和皮肤平滑肌肿瘤以及侵袭性肾细胞癌。几乎所有患有 HLRCC 的妇女在年轻时都会出现症状性子宫肌瘤,导致手术,这为早期发现这些患者和实施肾细胞癌监测措施提供了理想的机会。FH 缺陷型子宫肌瘤可表现出先前描述过的特征性形态特征 (FH-d 形态)。FH 的免疫组织化学 (IHC) 也有助于检测平滑肌瘤中的 FH 缺陷,表现为 FH 染色完全丧失。然而,在 HLRCC 患者的多发性平滑肌瘤的背景下,IHC 的 FH-d 形态和 FH 损失的分布和地形尚未得到评估。本研究的目的是详细描述 HLRCC 女性子宫肌瘤的临床和病理特征。包括 6 名已证实 FH 生殖系突变的患者。审查所有可用的幻灯片,并尽可能在多个块上进行 FH IHC 染色。临床数据从在线病历中提取。所有 6 名患者出现症状性子宫肌瘤,并接受子宫肌瘤切除术 (年龄 24 至 36 岁),随后在 2 名患者 (年龄 31 至 40 岁) 进行子宫切除术。标本显示常规平滑肌瘤、细胞平滑肌瘤和细胞核奇异的平滑肌瘤。FH-d 形态存在于所有患者的平滑肌瘤中,通常在不同平滑肌瘤类型的大多数载玻片中观察到弥漫性发现。1 例患者的部分平滑肌瘤切片中没有 FH-d 形态,2 例患者的平滑肌瘤形态学特征是局灶性和细微的。两个子宫切除术标本也都显示出背景子宫肌层中分散的不规则舌头和平滑肌增生结节 (平滑肌瘤样)。每个 FH 患者的多个载玻片的免疫组织化学染色显示要么在所有切片中保留染色 (2/6 例),要么在所有切片中染色丢失 (1 例) 或不同肌瘤的可变染色 (3 例)。总之,HLRCC 患者在年轻时接受高度症状性子宫肌瘤手术。FH-d 形态通常是不同肌瘤的弥漫性和发育良好的发现,但可能缺失或病灶和细微。FH IHC 可以显示可变的结果,保留 FH 染色的存在不应用于排除 HLRCC 的可能性。即使保留了 FH 的免疫组织化学染色,也应考虑在年轻的子宫肌瘤患者中进行遗传咨询和检测,显示 FH-d 形态。


妇产 妇科手术 手术操作
概述  :  

子宫是女性生殖器中的一个重要器官。子宫切除术是常见的妇科手术,手术可分为子宫全切除、子宫部分切除术和扩大子宫切除术。子宫部分切除术只切除子宫的上部,留下完整的子宫基底部和宫颈;子宫全切术是把子宫连同宫颈都切除;扩大子宫切除术则切除子宫、双侧附件(输卵管和卵巢),还有阴道的上部组织。子宫切除可经腹部或阴道进行,前者称为经腹部子宫切除术,后者称为经阴道子宫切除术。 适应与禁忌证子宫全切术的适应证:1)子宫破裂合并有子宫颈阴道和膀胱等多处损伤。2)典式瘢痕子宫,瘢痕全层破裂延及宫颈或伴子

hysterectomy   英 [ˌhɪstəˈrektəmi]   美 [ˌhɪstəˈrektəmi]

释    义   n. [妇产] 子宫切除  [复数 hysterectomies ]

同根词   n. hysterotomy 子宫切开术

例    句   Dr To did not explain to her the alternatives to a hysterectomy.  杜医生没有向她解释可以不做子宫切除手术。