myomectomy

子宫肌瘤切除术
  • 文章类型: Journal Article
    目的:确定子宫肌瘤切除术后偶然发现的子宫肉瘤妇女的预后和生存相关因素。
    方法:我们进行了一项回顾性研究,这些研究对象是先前接受过子宫肌瘤切除术的患者,这些患者在子宫肌瘤切除术后被发现患有子宫局限性肉瘤。
    结果:总计,确定了50名患者。有23例(46.0%)接受子宫肌瘤切除术的患者通过微创手术进行:腹腔镜(Lap,n=22,44.0%)或经阴道(电视,n=1,2.0%)方法;而,24例(48.0%)和3例(6.0%)患者通过腹部(Abd)或宫腔镜(Hys)方法进行了子宫肌瘤切除术。所有患者均在我们中心接受了重新探查和分期手术。从子宫肌瘤切除术到分期手术的中位时间为43天(范围为15-90天)。17例患者在剩余的子宫上有残留肉瘤,6例患者在重新探查后有播散性疾病。在整个队列中,5年RFS和5年OS分别为79.4%和88.0%,分别。与Abd/Hys方法相比,初次接受Lap/TV子宫肌瘤切除术的患者5年RFS倾向更差(63.0%vs88.9%,P=0.080)。两组5年OS无差异(90.3%vs91.8%,P=0.768)。对于I期疾病(n=44),与Abd/Hys方法相比,接受Lap/TV子宫肌瘤切除术的患者5年RFS更差(58.3%vs95.7%,P=0.009)。5年OS无差异(P=0.121)。
    结论:患有偶发性子宫肉瘤的患者接受原发性Lap/TV子宫肌瘤切除术后的RFS可能更差。重新探索可以发现残留或播散的肉瘤。
    OBJECTIVE: To determine prognosis and factors associated with survival of women with uterine sarcoma found incidentally after myomectomy.
    METHODS: We performed a retrospective study for patients who had previously undergone myomectomy for presumed benign uterine fibroid disease and were found to have uterine confined sarcoma after myomectomy surgery.
    RESULTS: In total, 50 patients were identified. There were 23 (46.0 %) patients undergoing myomectomy were performed by minimal invasive surgery: laparoscopic (Lap, n = 22, 44.0 %) or transvaginal (TV, n = 1, 2.0 %) approach; while, 24 (48.0 %) and 3 (6.0 %) patients had myomectomy through abdominal (Abd) or hysteroscopic (Hys) approach. All patients received the re-exploration and staging surgery in our center. The median time from myomectomy to the staging surgery was 43 days (range 15-90 days). 17 patients had remnant sarcomas on the remaining uterus and 6 patients had disseminated disease after re-exploration. In the entire cohort, 5-year RFS and 5-year OS was 79.4 % and 88.0 %, respectively. Patients who received initial Lap/TV myomectomy had a tendency towards a worse 5-year RFS compared with Abd/Hys approach (63.0 % vs 88.9 %, P = 0.080). No difference in 5-year OS was found between the two groups (90.3 % vs 91.8 %, P = 0.768). For stage I disease (n = 44), patients who received Lap/TV myomectomy had a worse 5-year RFS compared with Abd/Hys approach (58.3 % vs 95.7 %, P = 0.009). No difference in 5-year OS was found (P = 0.121).
    CONCLUSIONS: Patients with incidental uterine sarcoma who received primary Lap/TV myomectomy may have a worse RFS. Re-exploration can detect remnant or disseminated sarcomas.
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  • 文章类型: Case Reports
    寄生性平滑肌瘤与子宫本身没有联系,并从周围组织获得血液供应。医源性发展的寄生性平滑肌瘤称为医源性寄生性平滑肌瘤。关于寄生性平滑肌瘤的临床报道在妇科中很常见,但在整形外科中却不常见。我们报告了一例罕见的医源性寄生性平滑肌瘤,该病例是一名46岁的妇女,该妇女被转诊到我们的整形外科部门。她的主诉是右下腹皮下肿块,八年前有腹腔镜子宫肌瘤切除术史。磁共振成像显示右下腹和腹直肌后部的皮下组织中有两个肿块。通过腹壁切口切除这些肿块。组织病理学检查显示,提取的肿块是平滑肌瘤。整形外科医生必须牢记对罕见的寄生性平滑肌瘤病例的适当管理。
    A parasitic leiomyoma has no connection with the uterus itself and obtains its blood supply from the surrounding tissues. A parasitic leiomyoma that develops iatrogenically is called an iatrogenic parasitic leiomyoma. Clinical reports on parasitic leiomyoma are common in gynecology but not in plastic surgery. We report a rare case of an iatrogenic parasitic leiomyoma in a 46-year-old woman who was referred to our plastic surgery department. She presented with the main complaint of a subcutaneous mass in the lower right abdomen and had a history of laparoscopic myomectomy eight years ago. Magnetic resonance imaging showed two masses in the subcutaneous tissue of the lower right abdomen and the posterior rectus abdominis. The excision of these masses was performed through an abdominal wall incision. Histopathological examination revealed that the extracted mass was a leiomyoma. Plastic surgeons must keep in mind the appropriate management of rare cases of parasitic leiomyoma.
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  • 文章类型: Journal Article
    子宫肌瘤可导致不孕。研究正试图确定子宫肌瘤切除术的适应症。然而,肌瘤的多重性和定位使这个问题复杂化。我们旨在开发一种可视化工具,以帮助不孕症患者做出子宫肌瘤切除术的决策。我们纳入了191名患有子宫肌瘤的女性,在门诊不孕症诊所就诊,其中124例患者接受了子宫肌瘤切除术。其中,65例(52.4%)患者在手术后17.6个月内怀孕,其中54人(83.1%)有活产。预测妊娠率的逻辑回归模型(曲线下面积,0.82;95%置信区间,0.74-0.89;验证值,74.6%)是使用留一交叉验证方法生成的。这个模型包含了五个因素:年龄,子宫肌瘤切除术后最大程度的不孕干预,粘膜下肌瘤的存在,肌瘤的最大直径,和肌瘤类型(多发性或单发)。通过基于此模型开发列线图,我们成功地可视化了每个因素在妊娠率中的参与程度。我们扩展了术前磁共振图像的数据,并使用卷积神经网络应用了机器学习。分类准确率为敏感性71.4%,特异性为77.7%。热图图像,使用梯度加权类激活映射生成,以显示该模型的分类结果,可以区分需要摘除的肌瘤和不需要摘除的肌瘤。尽管需要更大的样本量来进一步验证我们的发现,这项创新性的试点研究证明了机器学习在完善评估标准和改善患者决策方面的潜力.
    Uterine myomas can cause infertility. Studies are attempting to determine the indications for myomectomy. However, the multiplicity and localization of myomas complicate this issue. We aimed to develop a visualization tool to aid patients with infertility in their decision-making for myomectomy. We included 191 women with uterine myoma attending an outpatient infertility clinic, of whom 124 patients underwent myomectomy. Of these, 65 (52.4%) patients became pregnant within 17.6 months after surgery, and 54 (83.1%) of them had a live birth. A logistic regression model predicting the pregnancy rate (area under the curve, 0.82; 95% confidence interval, 0.74-0.89; validation value, 74.6%) was generated using the leave-one-out cross-validation method. This model incorporated five factors: age, maximum level of infertility intervention following myomectomy, presence of submucosal myoma, maximum diameter of the myoma, and type of myomas (multiple or single). We successfully visualized the degree of involvement of each factor in the pregnancy rate by developing a nomogram based on this model. We expanded the data from the preoperative magnetic resonance images and applied machine learning using a convolutional neural network. The classification accuracy was 71.4% for sensitivity and 77.7% for specificity. Heatmap images, generated using gradient-weighted class activation mapping to show the classification results of this model, could distinguish between myomas that required enucleation and those that did not. Although a larger sample size is needed to further validate our findings, this innovative pilot study demonstrates the potential of machine learning to refine assessment criteria and improve patient decision-making.
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  • 文章类型: Journal Article
    播散性腹膜平滑肌瘤病(DPL)是一种罕见的疾病,其特征是腹膜腔中的多发性平滑肌瘤,主要影响育龄妇女。虽然通常是良性的,DPL可能会带来重大的诊断挑战,在极少数情况下,可能进展为恶性肿瘤。DPL的主要促成因素是医源性,特别是由于手术干预,如子宫肌瘤切除术中的碎裂。这篇范围综述探讨了发病机制,流行病学,诊断,和DPL的管理,强调荷尔蒙影响和医源性因素的关键作用。诊断方法包括计算机断层扫描,超声,磁共振成像,和组织病理学评估,这对于评估疾病程度和指导治疗至关重要。管理策略包括手术干预-重点是最小化医源性风险-无症状患者的保守方法。和激素治疗的进步。重点放在通过完善的手术技术和患者教育来防止医源性传播。尽管它很罕见,全球报告的病例不到200例,了解DPL的临床表现和医源性起源对于最佳患者预后至关重要。这篇综述强调了早期诊断的重要性,个性化的治疗计划,以及正在进行的研究,以解决与DPL相关的挑战。
    Disseminated peritoneal leiomyomatosis (DPL) is a rare condition marked by multiple leiomyomas in the peritoneal cavity, predominantly affecting women of reproductive age. Although typically benign, DPL can present significant diagnostic challenges and, in rare cases, may progress to malignancy. A primary contributing factor to DPL is iatrogenic, particularly due to surgical interventions such as morcellation during myomectomy. This scoping review explores the pathogenesis, epidemiology, diagnosis, and management of DPL, highlighting the crucial role of hormonal influences and iatrogenic factors. Diagnostic methods include computed tomography, ultrasound, magnetic resonance imaging, and histopathological evaluation, which are essential for assessing disease extent and guiding treatment. Management strategies encompass surgical intervention-with a focus on minimizing iatrogenic risks-conservative approaches for asymptomatic patients, and advancements in hormonal treatments. Emphasis is placed on preventing iatrogenic dissemination through refined surgical techniques and patient education. Despite its rarity, with fewer than 200 cases reported globally, understanding DPL\'s clinical presentation and iatrogenic origins is vital for optimal patient outcomes. This review underscores the importance of early diagnosis, personalized treatment plans, and ongoing research to address the challenges associated with DPL.
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  • 文章类型: Journal Article
    本研究评估了单孔腹腔镜子宫肌瘤切除术(SPLM)与传统腹腔镜子宫肌瘤切除术(CLM)的有效性和安全性。
    我们在一所大学三级医院进行了一项回顾性病例对照研究,涉及2020年7月至2022年12月接受治疗的262名患者。参与者分为两组:132例接受SPLM,130例接受CLM。
    两组在年龄方面具有可比性,身体质量指数,奇偶校验,交货历史,术前贫血,肌瘤的数量,和最大肌瘤的大小。与CLM组(平均118.5分钟和100毫升)相比,SPLM组的手术时间(平均93分钟)和估计失血量(平均50毫升)显着减少,分别)。根据大小进行亚组分析,location,肌瘤的数量进一步凸显了SPLM的优势,特别是对于大型(直径≥8cm)或多发性肌瘤(数量≥4)的患者。SPLM组患者满意度也明显较高。
    单孔腹腔镜子宫肌瘤切除术提供了一种非常有效的,更安全,和患者首选的子宫肌瘤手术治疗选择,尤其是在大型或多发性肌瘤的病例中。这些结果表明,SPLM可能成为复杂纤维瘤病例的首选手术方法,承诺减少创伤和患者更快的恢复。
    UNASSIGNED: This study assesses the effectiveness and safety of single-port laparoscopic myomectomy (SPLM) versus conventional laparoscopic myomectomy (CLM).
    UNASSIGNED: We conducted a retrospective case-control study at a university tertiary hospital, involving 262 patients treated from July 2020 to December 2022. Participants were divided into two groups: 132 underwent SPLM and 130 underwent CLM.
    UNASSIGNED: The two groups were comparable in terms of age, body mass index, parity, delivery history, preoperative anemia, number of myomas, and size of the largest myoma. The SPLM group showed a significant reduction in operation time (average 93 min) and estimated blood loss (average 50 ml) compared to the CLM group (average 118.5 min and 100 ml, respectively). Subgroup analysis based on the size, location, and number of myomas further highlighted the advantages of SPLM, particularly for patients with large (diameter ≥8 cm) or multiple myomas (number ≥4). Patient satisfaction was also notably higher in the SPLM group.
    UNASSIGNED: Single-port laparoscopic myomectomy offers a highly effective, safer, and patient-preferred option for the surgical management of fibroids, especially in cases of large or multiple myomas. These findings suggest that SPLM could become the preferred surgical approach for complex fibroid cases, promising less trauma and quicker recovery for patients.
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  • 文章类型: Journal Article
    这篇综述比较了子宫动脉栓塞术(UAE)和子宫肌瘤切除术(MYO)在不希望子宫切除术的女性中管理有症状的子宫肌瘤(UFs)的疗效。对所有可用的研究进行了荟萃分析,这些研究评估了MYO和UEA在治疗UF患者方面的相对益处和危害。结果评估了再干预,生活质量(QOL)和症状严重程度的UFs评分,和其他并发症。为了确定具有95%置信区间(CI)的平均差(MD)或比值比(OR),采用随机或固定效应模型。对13项研究(9项观察性试验和4项随机对照试验)进行了荟萃分析。结果表明,UAE的再干预率较高(OR1.84;95%CI1.62-2.10;P<0.01;I2=39%)。子宫切除率(OR4.04;95%CI3.45-4.72;P<0.01;I2=59%),和症状严重程度评分(OR-4.02;95%CI0.82,7.22;P=0.01;I2=0%)与MYO相比,在四年的随访中。然而,UAE与较低的早期并发症发生率相关(OR0.44;95%CI0.20-0.95;P=0.04;I2=25%),与MYO相比,再入院率(OR1.16;95%CI1.01-1.33;P=0.04;I2=0%)。此外,两种手术在妊娠率和异常子宫出血方面均有相当的改善.总之,UAE和MYO可有效治疗有症状的UF,但结果不同。应根据个人偏好和医生的专业知识来决定选择哪种手术。
    This review compares the efficacy of Uterine Artery Embolization (UAE) and Myomectomy (MYO) in managing symptomatic Uterine Fibroids (UFs) in women who do not want hysterectomy. A meta-analysis was performed on all available studies that evaluated the relative benefits and harms of MYO and UEA for the management of patients suffering from UFs. Outcomes evaluated reintervention, UFs scores for quality of life (QOL) and symptom severity, and other complications. To determine mean differences (MDs) or odds ratios (ORs) with 95% confidence intervals (CIs), a random or fixed-effects model was utilized. A meta-analysis of 13 studies (9 observational and 4 randomized controlled trials) was conducted. The results indicated that UAE had a higher reintervention rate (OR 1.84; 95% CI 1.62-2.10; P < 0.01; I2 = 39%), hysterectomy rate (OR 4.04; 95% CI 3.45-4.72; P < 0.01; I2 = 59%), and symptom-severity score (OR - 4.02; 95% CI 0.82, 7.22; P = 0.01; I2 = 0%) compared to MYO at a four-year follow-up. However, UAE was associated with a lower rate of early complications (OR 0.44; 95% CI 0.20-0.95; P = 0.04; I2 = 25%), and readmission rate (OR 1.16; 95% CI 1.01-1.33; P = 0.04; I2 = 0%) compared to MYO. Furthermore, both procedures had comparable improvement in pregnancy rates and abnormal uterine bleeding. In conclusion, UAE and MYO are effective in treating symptomatic UFs but they have different outcomes. The decision on which procedure to choose should be made based on individual preferences and the physician\'s expertise.
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  • 文章类型: Journal Article
    目的:探讨子宫肌瘤总体积比(FTUV)作为一种简单的,术前工具,以协助咨询正在进行子宫肌瘤切除术的妊娠患者。
    方法:这是一项针对2017年1月至2021年12月因子宫壁间肌瘤行开腹子宫肌瘤切除术的育龄期患者的历史队列研究。只有G3到G5肌瘤,根据2011年国际妇产科联合会(FIGO)分类,包括在内。术前经阴道超声(TVUS)测量壁内肌瘤的体积(diameter1*diameter2*diameter3*0.52)并计算其总体积。总肌瘤与子宫体积(FTUV)之比计算为IM肌瘤体积之和所占的子宫体积的比例。
    结果:共纳入166名接受IM肌瘤术前TVUS评估的女性,平均年龄36.22±5.15岁。FTUV比率被确定为手术后临床妊娠的阳性预测因子(adjOR,1.04;95%CI,1.02-1.06;p=0.0001),而年龄显示出负相关性(adjOR,0.90;95%CI,0.83-0.98;p=0.012)。手术前子宫内膜腔扭曲也与手术后妊娠呈正相关(adjOR,3.50;95%CI,1.51-8.08;p=0.003)。发现活产的结果一致,FTUV比率是手术后活产的显著正预测因子(adjOR,1.03;95%CI,1.01-1.05;p=0.001)和年龄显示负相关(adjOR,0.88;95%CI,0.80-0.96;p=0.004)。手术前的均等对手术后的活产也有积极影响(adjOR,2.65;95%CI,1.30-5.40;p=0.007)。53.39%的FTUV比值阈值准确预测68.46%病例的临床妊娠(敏感性为71.70%,特异性为66.67%)。对于活产,在69.13%的病例中,59.21%的较高FTUV比率阈值准确预测结局(敏感性为65.85%,特异性为70.37%).
    结论:在IM肌瘤的术前超声评估中使用FTUV比率可以改善子宫肌瘤切除术后希望怀孕的患者的咨询。通过提供对肌瘤占据的子宫肌层体积的个性化评估,FTUV比率可以帮助预测手术后的生育结果,能够做出更明智的决定和治疗计划。
    OBJECTIVE: To explore the utility of the total fibroids-to-uterine volume (FTUV) ratio as a simple, preoperative tool to assist in counseling patients seeking pregnancy who are undergoing myomectomy for intramural (IM) fibroids.
    METHODS: This is an historical cohort study on reproductive-aged patients seeking pregnancy who underwent laparotomic myomectomy for intramural fibroids from January 2017 to December 2021. Only G3 to G5 fibroids, according to the 2011 International Federation of Gynecology and Obstetrics (FIGO) classification, were included. Pre-operative transvaginal ultrasound (TVUS) was performed to measure the volume of intramural myomas (diameter1*diameter2*diameter3*0.52) and to calculate their total volume. The total fibroids-to-uterine volume (FTUV) ratio was calculated as the proportion of the uterine volume occupied by the sum of IM fibroids volumes.
    RESULTS: A total of 166 women with pre-surgical TVUS evaluation of IM fibroids were included, with a mean age of 36.22 ± 5.15 years. The FTUV ratio was identified as a positive predictor of clinical pregnancy after surgery (adjOR, 1.04; 95 % CI, 1.02-1.06; p = 0.0001), whereas age showed a negative association (adjOR, 0.90; 95 % CI, 0.83-0.98; p = 0.012). Endometrial cavity distortion prior to surgery was also positively associated with pregnancy post-surgery (adjOR, 3.50; 95 % CI, 1.51-8.08; p = 0.003). Consistent results were found for live births, with the FTUV ratio being a significant positive predictor of live birth after surgery (adjOR, 1.03; 95 % CI, 1.01-1.05; p = 0.001) and age showing a negative association (adjOR, 0.88; 95 % CI, 0.80-0.96; p = 0.004). Parity prior to surgery also positively impacted live birth post-surgery (adjOR, 2.65; 95 % CI, 1.30-5.40; p = 0.007). An FTUV ratio threshold of 53.39 % accurately predicted clinical pregnancy in 68.46 % of cases (sensitivity of 71.70 % and specificity of 66.67 %). For live births, a higher FTUV ratio threshold of 59.21 % predicted outcomes accurately in 69.13 % of cases (sensitivity of 65.85 % and specificity of 70.37 %).
    CONCLUSIONS: The use of the FTUV ratio in pre-operative ultrasound evaluation of IM fibroids may improve counseling for patients desiring to conceive after myomectomy. By providing a personalized assessment of the amount of myometrial volume occupied by fibroids, the FTUV ratio can help predict fertility outcomes after surgery, enabling better-informed decisions and treatment planning.
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  • 文章类型: Journal Article
    目的:子宫平滑肌瘤的分子状态已被证明会影响肿瘤特征和治疗反应。介体复合物亚基12(MED12)的突变,平滑肌瘤中最普遍的改变,与肿瘤大小和平滑肌瘤的数量有关。子宫肌瘤切除术可以通过腹腔镜或开腹手术进行,根据切除的平滑肌瘤的大小和数量。这项研究的目的是检查MED12突变状态与子宫肌瘤切除术的手术方法之间的关系。我们还根据MED12突变状态评估了腹腔镜或腹部手术后子宫肌瘤切除术患者的生活质量。
    方法:前瞻性队列研究包括2015-2019年在赫尔辛基大学医院接受腹腔镜或腹部子宫肌瘤切除术的104名女性。患者术前、术后6个月和12个月填写有效的子宫肌瘤症状和生活质量问卷(UFS-QOL)。对病历进行审查以收集临床数据。收集平滑肌瘤组织样品并筛选MED12突变。
    结果:与腹腔镜子宫肌瘤切除术的患者相比,接受腹部子宫肌瘤切除术的患者肌瘤更大,数量更多(10cmvs7.4cm,p<0.001和3vs1平滑肌瘤,p分别<0.001)。腹腔镜和腹部子宫肌瘤切除术后6个月,UFS-QOL评分平均变化超过20分(p<0.001)。在178/242(74%)的平滑肌瘤中检测到MED12突变。在患者中,45/97(46%)只有MED12阳性平滑肌瘤,而39/97(40%)只有MED12野生型平滑肌瘤。MED12阳性平滑肌瘤患者切除的平滑肌瘤数量高于MED12野生型肿瘤患者(p<0.001)。腹腔镜方法在两组中同样常见(62%和64%),UFS-QOL评分差异无统计学意义。
    结论:腹腔镜和开腹子宫肌瘤切除术均能显著改善患者的生活质量。虽然MED12突变与多发性平滑肌瘤相关,因此可能产生更大的平滑肌瘤负担,它们与手术方法无关。无论MED12状态如何,患者的术前和术后生活质量均具有可比性。
    OBJECTIVE: Molecular status of uterine leiomyomas has been shown to affect both tumor characteristics and treatment response. Mutations in mediator complex subunit 12 (MED12), the most prevalent alterations in leiomyomas, are associated with tumor size and number of leiomyomas. Myomectomy can be performed by laparoscopy or by open abdominal surgery, depending on the size and number of leiomyomas removed. The aim of this study was to examine the association between MED12 mutation status and surgical approach of myomectomy. We also evaluated myomectomy patients\' quality of life after laparoscopic or abdominal surgery and according to the MED12 mutation status.
    METHODS: The prospective cohort study included 104 women who underwent laparoscopic or abdominal myomectomy at the Helsinki University Hospital during 2015-2019. Patients filled in the validated Uterine Fibroid Symptom and Quality of Life (UFS-QOL) questionnaire before the operation and 6 and 12 months after the operation. Medical records were reviewed to collect clinical data. Leiomyoma tissue samples were collected and screened for MED12 mutations.
    RESULTS: Patients undergoing abdominal myomectomy had larger and more numerous leiomyomas compared to patients with laparoscopic myomectomy (10 cm vs 7.4 cm, p < 0.001 and 3 vs 1 leiomyomas, p < 0.001, respectively). A mean change of over 20 points was seen in UFS-QOL scores at 6 months after both laparoscopic and abdominal myomectomy (p < 0.001). MED12 mutations were detected in 178/242 (74 %) of leiomyomas. Of the patients, 45/97 (46 %) had only MED12 positive leiomyomas, while 39/97 (40 %) had only MED12 wild type leiomyomas. The number of leiomyomas removed was higher among patients with MED12 positive leiomyomas than in patients with MED12 wild type tumors (p < 0.001). Laparoscopic approach was equally common in both groups (62 % and 64 %), and there was no statistically significant difference in the UFS-QOL scores.
    CONCLUSIONS: Both laparoscopic and abdominal myomectomy significantly improved the quality of life. While MED12 mutations were related with multiple leiomyomas and therefore potentially generated a greater leiomyoma burden, they were not associated with the surgical approach. Pre- and postoperative quality of life was comparable between patients regardless of MED12 status.
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  • 文章类型: Journal Article
    背景:子宫肌瘤切除术后重复发生或甚至再次干预是常见的。对与重复干预有关的因素知之甚少。
    目的:本研究旨在确定初次腹腔镜或开腹子宫肌瘤切除术后平滑肌瘤相关再干预的频率,并分析再干预的临床和分子风险因素。另一个目的是确定来自重复手术的克隆相关肿瘤的频率。
    方法:这项回顾性队列研究包括2009-2014年接受腹腔镜或开腹子宫肌瘤切除术的234名妇女。在索引程序后的中位随访时间为11,4年(范围为7,9-13,8年)后,从病历中收集了与平滑肌瘤相关的重复干预措施以及其他临床因素的信息。通过Kaplan-Meier估计器和Cox比例风险模型分析临床危险因素对再干预风险的影响。对于分子分析,我们检测了33例重复手术患者的133例福尔马林固定石蜡包埋的平滑肌瘤样本的突变谱.我们筛选了三种原发性平滑肌瘤驱动改变-MED12突变的肿瘤,HMGA2过表达,和FH缺乏利用Sanger测序和免疫组织化学。为了进一步评估肿瘤的克隆关系,我们对来自21例患者的52例平滑肌瘤进行了全外显子组测序,这些患者在多次手术获得的肿瘤中表现出相同的驱动改变.
    结果:子宫肌瘤切除术后11、4年的再干预率为20%(46/234)。在索引子宫肌瘤切除术中切除的平滑肌瘤数量是一个危险因素(风险比1.21;95%置信区间1.09-1.34)。子宫肌瘤切除术的年龄(风险比0.94;95%置信区间0.89-0.99)和术后均等(风险比0.23;95%置信区间0.09-0.60)是保护因素。来自索引和非索引手术的肿瘤的分子表征证实了3/33(9%)患者中肿瘤的克隆关系。没有一个带有MED12突变的平滑肌瘤-最常见的平滑肌瘤驱动者-被证实是克隆相关的。在3/33(9%)患者的重复平滑肌瘤中检测到FH缺乏。所有这些患者都有生殖系FH突变,这是独特的遗传性平滑肌瘤和肾细胞癌(HLRCC)综合征。最后,我们确定了三名(3/33;9%)患有两种肿瘤的患者,每种肿瘤在最近发现的新型平滑肌瘤驱动基因中显示体细胞突变,YEATS4.所有YEATS4突变是不同的,因此肿瘤不是克隆相关的。
    结论:我们的研究表明,手术子宫肌瘤切除术后再干预是常见的。子宫平滑肌瘤通常独立发展,但有些人有克隆起源.重复平滑肌瘤的发生可能是由于遗传易感性,例如种系FH突变。在同一患者的多发性平滑肌瘤中发现的不同体细胞YEATS4突变表明YEATS4在重复平滑肌瘤中可能发挥作用。
    BACKGROUND: Repeat leiomyoma occurrence or even reintervention is common after myomectomy. Little is known about the factors related to repeat interventions.
    OBJECTIVE: This study aimed to determine the frequency of leiomyoma-related reintervention after an initial laparoscopic or abdominal myomectomy and to analyze both clinical and molecular risk factors for reinterventions. Another objective was to define the frequency of clonally related tumors from repeat operations.
    METHODS: This retrospective cohort study included 234 women who had undergone laparoscopic or abdominal myomectomy in 2009 to 2014. Information on repeat leiomyoma-related interventions as well as on other clinical factors was collected from medical records after a median follow-up time of 11.4 years (range 7.9-13.8 years) after the index procedure. The effect of clinical risk factors on the risk of reintervention was analyzed by the Kaplan-Meier estimator and the Cox proportional hazards model. For molecular analyses, we examined the mutation profiles of 133 formalin-fixed paraffin-embedded leiomyoma samples from 33 patients with repeat operations. We screened the tumors for the 3 primary leiomyoma driver alterations-mediator complex subunit 12 mutations, high mobility group AT-hook 2 overexpression, and fumarate hydratase-deficiency-utilizing Sanger sequencing and immunohistochemistry. To further assess the clonal relationship of the tumors, we executed whole-exome sequencing for 52 leiomyomas from 21 patients who exhibited the same driver alteration in tumors obtained from multiple procedures.
    RESULTS: Reintervention rate at 11.4 years after myomectomy was 20% (46/234). Number of leiomyomas removed at the index myomectomy was a risk factor (hazard ratio 1.21; 95% confidence interval 1.09-1.34). Age at index myomectomy (hazard ratio 0.94; 95% confidence interval 0.89-0.99) and postoperative parity (hazard ratio 0.23; 95% confidence interval 0.09-0.60) were protective factors. Molecular characterization of tumors from index and nonindex operations confirmed a clonal relationship of the tumors in 3/33 (9%) patients. None of the leiomyomas harboring a mediator complex subunit 12 mutation-the most common leiomyoma driver-were confirmed clonally related. Fumarate hydratase-deficiency was detected in repeat leiomyomas from 3/33 (9%) patients. All these patients harbored a germline fumarate hydratase mutation, which is distinctive for the hereditary leiomyomatosis and renal cell cancer syndrome. Finally, we identified 3 (3/33; 9%) patients with 2 tumors each displaying somatic mutations in a recently identified novel leiomyoma driver gene, YEATS domain-containing protein 4. All YEATS domain-containing protein 4 mutations were different and thus the tumors were not clonally related.
    CONCLUSIONS: Our study shows that reintervention is common after surgical myomectomy. Uterine leiomyomas typically develop independently, but some share a clonal origin. Repeat leiomyoma occurrence may be due to genetic predisposition, such as a germline fumarate hydratase mutation. Distinct somatic YEATS domain-containing protein 4 mutations identified in multiple leiomyomas from the same patient indicate a possible role for YEATS domain-containing protein 4 in repeat leiomyomas.
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  • 文章类型: Case Reports
    子宫平滑肌肉瘤(LMS)是一种罕见的疾病,由子宫中存在的平滑肌引起。它通常发生在绝经后的妇女。由于其侵略性,预后很差.我们介绍了一例子宫LMS,在35岁的时候就出现了不孕症,这在这个年龄是罕见的。她患有子宫肌瘤,为此进行了子宫肌瘤切除术。在组织病理学上,她被诊断为LMS.术前通过可用的成像方式诊断LMS非常困难且几乎不可能。迫切需要一种可靠的术前风险评分系统,该系统可以帮助诊断恶性肿瘤,从而可以为患者提供正确的手术途径和治疗。进行了全腹子宫切除术(TAH)和双侧附件卵巢切除术(BSO),并建议进行辅助化疗。患者保持无病,并接受化疗。
    Uterine leiomyosarcoma (LMS) is an uncommon disease that arises from the smooth muscles present in the uterus. It usually occurs in post-menopausal women. Due to its aggressive nature, it has a very poor prognosis. We present a case of uterine LMS, which presented at a young age of 35 years for infertility, which is rare at this age. She had a fundal fibroid for which myomectomy was done. On histopathology, she was diagnosed with LMS. It is very difficult and nearly impossible to diagnose LMS preoperatively by available imaging modalities. There is an urgent need for a reliable preoperative risk scoring system that can help in diagnosing malignancy so that a correct surgical pathway and treatment can be offered to patients. A total abdominal hysterectomy (TAH) with bilateral salpingo-oophorectomy (BSO) was done and was advised adjuvant chemotherapy. The patient remained disease-free and was put on chemotherapy.
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