Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant condition, which manifests as cutaneous leiomyomas (CL), uterine fibroids and renal cell cancer (RCC). We describe the case of a 53‐year‐old woman who presented with multiple CL with a novel heterozygous canonical splice site mutation in intron 9 of the fumarate hydratase (FH) gene IVS 9–1 G>C ( NM_000143.3 :c 1391–1 G>C) that was not detected on initial screening of a mutation hotspot but was picked up on sequencing the remaining exons and splice site junctions. This report highlights the importance of clinical suspicion in the diagnosis of HLRCC in the absence of a family or personal history of cancer and despite initial genetic testing being negative.     

Parasitic leiomyoma in the trocar site after laparoscopic myomectomy: A case report

BACKGROUNDLaparoscopic myomectomy is increasingly used for resecting gynecological tumors. Leiomyomas require morcellation for retrieval from the peritoneal cavity. However, morcellated fragments may implant on the peritoneal cavity during retrieval. These fragments may receive a new blood supply from an adjacent structure and develop into parasitic leiomyomas. Parasitic leiomyomas can occur spontaneously or iatrogenically; however, trocar-site implantation is an iatrogenic complication of laparoscopic uterine surgery. We describe a parasitic leiomyoma in the trocar-site after laparoscopic myomectomy with power morcellation.CASE SUMMARYA 50-year-old woman presented with a palpable abdominal mass without significant medical history. The patient had no related symptoms, such as abdominal pain. Computed tomography findings revealed a well-defined contrast-enhancing mass measuring 2.2 cm, and located on the trocar site of the left abdominal wall. She had undergone laparoscopic removal of uterine fibroids with power morcellation six years ago. The differential diagnosis included endometriosis and neurogenic tumors, such as neurofibroma. The radiologic diagnosis was a desmoid tumor, and surgical excision of the mass on the abdominal wall was successfully performed. The patient recovered from the surgery without complications. Histopathological examination revealed that the specimen resected from the trocar site was a uterine leiomyoma.CONCLUSIONClinicians should consider the risks and benefits of laparoscopic vs laparotomic myomectomy for gynecological tumors. Considerable caution must be exercised for morcellation to avoid excessive tissue fragmentation.     

超声引导下注射氨甲喋呤治疗子宫肌瘤的临床疗效与血流变化观察

目的 探讨超声引导下经阴道瘤体内注射氨甲喋呤(MTX)治疗子宫肌瘤的临床疗效及血流变化.方法 对31例子宫肌瘤患者在超声引导下经阴道瘤体内注射MTX治疗,剂量50～60mg,每月1次,连续注射3个月,超声下观察肌瘤体积和注射前后血流信号变化.结果 治疗后所有患者临床症状改善或消失,月经恢复正常,无严重并发症发生.注药1个月后肌瘤体积与治疗前相比无明显变化(P＞0.05);第2、3次注药1个月后肌瘤体积与治疗前相比明显缩小(P＜0.01),注药6个月后肌瘤体积与注药3个月后相比较差异无显著性意义(P＞0.05).注药后肌瘤内血流信号明显减少.结论 行超声引导下经阴道瘤体内注射MTX治疗子宫肌瘤,近期疗效明显,操作简单,副作用小.     

小剂量米非司酮治疗子宫肌瘤对子宫内膜的影响

目的观察米非司酮治疗子宫肌瘤对子宫内膜组织形态和内膜中雌激素受体（ER）、孕激素受体（PR）的影响。方法米非司酮组为20例临床诊断为子宫肌瘤合并不同程度贫血，有手术指征的患者，从月经第1天起给予米非司酮12．5mg／d口服，连续30d，第31～91天8mg／d口服。停药后立即手术；对照组为同期手术的36例未服用米非司酮的子宫肌瘤患者。两组手术后子宫标本均采用ER，PR单克隆抗体免疫组织化学法检测子宫内膜的ER，PR表达。结果米非司酮组子宫内膜以增殖期变化为主，内膜的ER，PR表达处于早、中增殖期水平。结论小剂量米非司酮治疗子宫肌瘤对子宫内膜是安全的，并不会增加其癌变倾向。     

平滑肌可收缩蛋白在人子宫肌及子宫平滑肌瘤中的差异表达研究

目的:探讨平滑肌可收缩蛋白SM-α-actin、Calponin和SM22在人类子宫肌及子宫平滑肌瘤中的差异表达.方法:采用Western blot检测人子宫肌及子宫平滑肌瘤组织中平滑肌可收缩蛋白SM-α-actin,Calponin和SM22的表达情况.进一步采用酶消化法分离培养人子宫平滑肌细胞(HM-SMCs)及子宫平滑肌瘤平滑肌细胞(HL-SMCs),并采用免疫荧光、Western blot检测HM-和HL-SMCs中SM-α-actin、Calponin、SM22的表达.结果:Western blot结果显示平滑肌可收缩蛋白SM-α-actin、Calponin、SM22在人子宫平滑肌瘤组织中表达下降,差异有统计学意义(P＜0.05);免疫荧光对原代培养的HM-和HL-SMCs中SM-αactin,Calponin和SM22的表达进行检测,结果均呈阳性,但与HM-SMCs相比,在HL-SMCs中表达水平下降.进一步的Westem blot结果也显示HL-SMCs中SM-α-actin,Calponin和SM22-α表达下降,差异有统计学意义(P＜0.05).绘制生长曲线显示子宫平滑肌瘤细胞生长缓慢.结论:子宫平滑肌瘤细胞的分化程度较低,在子宫平滑肌瘤病变中可能存在着平滑肌的去分化现象.SM-α-actin、Calponin和SM22可能在子宫平滑肌瘤的发生、发展过程中起着重要作用.     

不同类型肝泡型包虫病病灶边缘区超声造影参数与微血管密度的相关性

目的观察不同类型肝泡型包虫病(HAE)病灶边缘区超声造影(CEUS)参数与微血管密度(MVD)的相关性。方法回顾性选取34例(39个病灶)HAE患者,根据常规超声声像图表现分为浸润型、钙化型及液化型HAE,记录各型病灶中心区、边缘区及正常肝组织平均渡越时间(MTT)、达峰时间(TP)、峰值强度(PI)及曲线下面积(AUC)。对术后病灶组织行常规HE染色及CD34免疫组织化学染色,检测边缘区MVD。采用Pearson相关分析观察各型HAE病灶边缘区MVD与CEUS参数的相关性。结果39个HAE病灶中,浸润型16个、钙化型13个及液化型10个;不同类型病灶边缘区PI、TP、AUC及MTT差异均有统计学意义(P均<0.01),且均为浸润型>钙化型>液化型(P均<0.05);病灶中心区及未受累肝组织的CEUS参数差异均无统计学意义(P均>0.05)。3种类型病灶边缘区MVD差异有统计学意义(F=224.21,P<0.01),且浸润型>钙化型>液化型(P均<0.05)。液化型、钙化型、浸润型HAE病灶边缘区MVD值均与PI呈正相关(r=0.98、0.97、0.97,P均<0.01);与AUC亦呈正相关(r=0.38、0.43、0.29,P均<0.05),但相关系数r相对较低;与TP及MTT均无明显相关性(P均>0.05)。结论CEUS定量参数能反映不同类型HAE病灶边缘区微循环及血流灌注情况;浸润型、钙化型、液化型HAE之间,病灶边缘区CEUS定量参数和MVD值均呈递减趋势,PI、AUC均与MVD呈正相关。     

670例子宫肌瘤患者住院费用的影响因素分析

目的分析子宫肌瘤患者住院费用的影响因素,以控制住院费用的上涨。方法提取2010年1月至2011年3月期间出院的670例子宫肌瘤患者病案,用Logistic回归分析方法对可能的影响因素进行筛选。结果影响子宫肌瘤患者住院费用的因素依次为住院天数、年龄、治疗方式、其他诊断。结论控制住院费用要以缩短住院天数为突破口。     

胃镜辅助在食管平滑肌瘤电视胸腔镜手术中的应用

目的:探讨胃镜辅助在食管平滑肌瘤电视胸腔镜手术中应用的实用性。方法:行胃镜辅助电视胸腔镜手术治疗食管平滑肌瘤患者22例。术中胃镜行肿瘤定位、检查食管黏膜有无破裂及破裂黏膜修补的状况。结果:无手术死亡及严重并发症,无中转开胸。平均手术时间90 min;术后平均住院天数为6 d。结论:胃镜辅助电视胸腔镜手术治疗食管平滑肌瘤,具有创伤小、恢复快、手术瘢痕小的特点。