Epstein-Barr virus-associated smooth muscle tumors in immunocompromised patients:Six case reports

BACKGROUND Epstein-Barr virus associated smooth muscle tumor(EBV-SMT)is a rare oncological entity.However,there is an increasing incidence of EBV-SMTs,as the frequency of organ transplantation and immunosuppression grows.EBV-SMT diagnosis relies on histopathology and immunochemical staining to distinguish it from post-transplant lymphoproliferative disorder(PTLD).There is no clear consensus on the treatment of EBV-SMTs.However,surgical resection,chemotherapy,radiation therapy,and immunosuppression reduction have been explored with varying degrees of success.CASE SUMMARY Our case series includes six cases of EBV-SMTs across different age groups,with different treatment modalities,adding to the limited existing literature on this rare tumor.The median latency time between immunosuppression and disease diagnosis is four years.EBV-SMTs present with variable degrees of aggressiveness and seem to have worse clinical outcomes in patients with tumor multiplicity and worse immunocompetency.CONCLUSION It is imperative to continue building on this knowledge and keeping EBV-SMTs on the differential in immunocompromised individuals.

Retroperitoneal Smooth Muscle Tumor of Uncertain Malignant Potential (STUMP): Case Report

Retro peritoneal smooth muscle tumors of uncertain malignant potential (STUMP) are rare and often misdiagnosed as leiomyosarcoma. We hereby report the case of a retroperitoneal STUMP diagnosed on a surgical specimen in a 44-year-old woman without any history of disease.

Influence of Stent Implantation on the Expression of PCNA and Apoptosis in Injured Vascular Smooth Muscle Cells

Objectives To evaluate the impact of stent implantation on proliferation and apop-tosis in injured media vascular smooth muscle cells (VSMC) and to explore the mechanism of restenosis after stent implantation. Methods Fifty male New Zealand rabbits were randomized into two groups, including balloon group and stent group. Control group was set up. The samples were harvested on 3, 7, 14, 28, 56 days after operation and the following investigation was carried out: (1) Assessing the expression of proliferating cell nuclear antigen (PCNA) of media VSMC by the method of immunohistochemistry; (2) Analyzing apoptosis of media VSMC by DNA agarose gel electrophoresis and TUNEL technique. Results The expression of PCNA and apoptosis in stent and balloon groups were markedly increased compared with control groups. (1) Stent group induced significant increased expression of PCNA in the media VSMC compared with balloon group on 3 to 28 days. On day 7, the positive rates of PCNA were 24. 36±0. 55 % vs 18. 74±1. 09 % ( P < 0. 01 ); (2) From 3 to 28 days, stent group appeared obvious DNA ladder, while balloon group only had little trace ; (3) TUNEL method showed that stent group induced much more significant apoptosis than that of balloon group on 3 to 28 days. The highest rate of apoptosis appeared on day 7: 12. 42 ±1.13% vs 5. 54±0.53% (P<0. 01); (4) By calculating the ratio of the positive rate of PCNA to apoptosis, it showed that on 3 to 28 days, the ratio of balloon group was higher than that of stent group. There was obvious difference between two groups. Conclusions Stent group induces augmented proliferation and much more significant apoptosis of media VSMC than that of balloon group. It makes the ratio of proliferation to apotosis reduced and the severity of restenosis relieved after stent implantation.

Review of the literature laparoscopic surgery for metastatic hepatic leiomyosarcoma associated with smooth muscle tumor of uncertain malignant potential: Case report

Metastatic hepatic leiomyosarcoma is a rare malignant smooth muscle tumor.We report a case of metastatic hepatic leiomyosarcoma associated with smooth muscle tumor of uncertain malignant potential(STUMP).A 68-year-old female presented with a liver mass(60 mm × 40 mm, Segment 4).She underwent left salpingooophorectomy for an ovary tumor with STUMP in a broad ligament 6 years ago.Though FDG-PET showed obvious metabolically active foci, abnormal metabolically active foci other than the lesion were not detected.A malignant liver tumor was strongly suspected and laparoscopic partial liver resection was performed with vessel-sealing devices using the crush clamping method and Pringle maneuver.Immunohistochemical findings revealed metastatic liver leiomyosarcoma associated with STUMP in a broad ligament.This case is an extremely rare case of malignant transformation from primary STUMP to metastatic hepatic leiomyosarcoma.It provides important evidence regarding the treatment for metastatic hepatic leiomyosarcoma associated with STUMP.

Immunohistochemical Analysis of p16 Expression in Uterine Smooth Muscle Tumors

Objective: Immunohistochemistry with p16 antibody is used as a diagnostic marker in several gynecologic pathologies. The purpose of the present study was to evaluate the diagnostic and prognostic significance of p16 immunohistochemistry in various uterine smooth muscle tumors. Methods: Tissue specimens, including 29 leiomyomas, 13 smooth muscle tumors of uncertain malignant potential (STUMP), and 17 leiomyosarcomas, were obtained from 59 patients with uterine smooth muscle tumors. The prevalence of p16 expression in various uterine smooth muscle tumors was examined using immunohistochemistry methods and we investigated the association between p16 expression and various clinicopathologic parameters, including prognosis of leiomyosarcomas. Results: The prevalence of p16 expression of leiomyomas, STUMP, and leiomyosarcomas tumors was 10.3%, 38.4%, and 76.4%, respectively. The prevalence and immunohistochemistry scores of p16 were significantly higher in the leiomyosarcomas group than in the leiomyomas or STUMP tumor groups. In the leiomyosarcomas groups, p16 immunohistochemistry scores were significantly higher in the groups with more advanced stage, higher mitotic activity, and recurrence. The relationship among p16 immunohistochemistry scores and age, tumor size, extent of necrosis, and degree of myometrial invasion was not significant. High expression of p16 in leiomyosarcomas was linked to shorter disease-free and overall survival. Conclusions: The use of p16 immunohisitochemistry is a useful marker in differential diagnosis in various uterine smooth muscle tumors. Moreover, p16 overexpression possibly plays an important role in tumor progression and we demonstrate that p16 may be a predictor of overall survival in patients with leiomyosarcoma tumors.

Endoscopic management of gastrointestinal smooth muscle tumor

AIM: To systematically evaluate the efficacy and safety of endoscopic resection of gastrointestinal smooth muscle tumors (SMTs, including leiomyoma and leiomyosarcoma) and to review our preliminary experiences on endoscopic diagnosis of gastrointestinal SMTs. METHODS: A total of 69 patients with gastrointestinal SMT underwent routine endoscopy in our department. Endoscopic ultrasonography (EUS) was also performed in 9 cases of gastrointestinal SMT. The sessile submucosal gastrointestinal SMTs with the base smaller than 2 cm in diameter were resected by "pushing" technique or "grasping and pushing" technique while the pedunculated SMTs were resected by polypectomy. For those SMTs originating from muscularis propria or with the base size ≥ 2 cm, ordinary biopsy technique was performed in tumors with ulcers while the "Digging" technique was performed in those without ulcers. RESULTS: 54 cases of leiomyoma and 15 cases of leiomyosarcoma were identified. In them, 19 cases of submucosal leiomyoma were resected by "pushing" technique and 10 cases were removed by "grasping and pushing" technique. Three cases pedunculated submucosal leiomyoma were resected by polypectomy. No severe complications developed during or after the procedure. No recurrence was observed. The diagnostic accuracy of ordinary and the "Digging" biopsy technique was 90.0% and 94.1%, respectively. CONCLUSION: Endoscopic resection is a safe and effective treatment for leiomyomas with the base size ≤2 cm. The "digging" biopsy technique would be a good option for histologic diagnosis of SMTs.

PDGF-AA对血管平滑肌细胞c-myc、c-myb mRNA及PCNA表达的影响

目的明确血小板源生长因子 -AA(PDGF -AA)与自发性高血压大鼠血管平滑肌细胞(SHR -VSMC)增殖的关系。方法采用Westernblot、RT -PCR等方法 ,观察在SHR和Wistar大鼠VSMC中 ,PDGF -AA对SHR/Wistar-VSMC增殖细胞核抗原 (PCNA)、c -myc、c -mybmRNA表达影响的差异性。结果在不同浓度PDGF -AA刺激下 ,SHR -VSMC中PCNA、c -myc、c -mybmRNA表达明显高于Wistar-VSMC(P<0.01) ,且呈明显的剂量依赖性关系(P<0.01)。结论PDGF -AA特异性的刺激SHR -VSMC异常增殖 。

PCNA、p53、Rb基因产物表达与平滑肌肿瘤的良恶性关系研究

目的 :探讨PCNA、p53、Rb基因产物表达与平滑肌肿瘤良恶性的关系。方法 :采用免疫组化LSAB法检测PCNA、p53、Rb基因产物在 5例平滑肌瘤、 2 7例平滑肌肉瘤的表达情况。结果 :PCNA、p53、Rb在平滑肌瘤、平滑肌肉瘤的阳性表达分别为 2 ,2 5例 (P <0 0 5) ;1,15例 (P >0 0 5) ;1,16例 (P <0 0 5)。表明检测基因产物PCNA、p53、Rb的表达有助于判断平滑肌肿瘤的良恶性及预后。

支架植入对兔血管平滑肌细胞PCNA和Cyclin E表达及细胞凋亡的影响

【目的】观察支架植入后对血管中膜平滑肌细胞增殖和凋亡的影响 ,探讨支架植入后再狭窄的发生机制。【方法】将雄性新西兰兔 5 0只随机分为球囊组和支架组 ,设正常对照。分别于术后第 3、7、14、2 8、5 6天取材研究 :①用免疫组化检测血管中膜平滑肌细胞中增殖细胞核抗原 (PCNA)和细胞周期蛋白E(CyclinE)的表达 ;②用TUNEL染色法测定血管中膜平滑肌细胞的凋亡。【结果】与对照组比较 ,支架组和球囊组PCNA、CyclinE表达及细胞凋亡均有显著增加。支架组与球囊组比较 ,①PCNA和CyclinE表达明显增加 ,术后第 7天 ,支架组和球囊组PCNA阳性率为 2 4 36 %± 0 5 5 % vs18 74%±1 0 9% (P <0 0 1) ,CyclinE阳性率为 2 2 6 5 %± 1 0 0 % vs17 6 8%± 1 10 % (P <0 0 1) ;②支架组血管中膜平滑肌细胞的凋亡也较球囊组显著增加 ,最大凋亡率在术后第 7天 ,12 46 %± 1 13%vs5 5 4± 0 5 3% (P <0 0 1) ;③PCNA和CyclinE的阳性率与平滑肌细胞凋亡阳性率的比值 ,球囊组大于支架组。【结论】支架组较球囊组导致明显的平滑肌细胞增殖 ,同时也导致更显著的平滑肌细胞凋亡 。

新型K_(ATP)开放剂埃他卡林对原代培养人肺动脉平滑肌细胞PCNAmRNA表达的影响

目的:观察新型ATP敏感性钾通道(KATP)开放剂埃他卡林(IPT)对原代培养人肺动脉平滑肌细胞增殖细胞核抗原(PCNA)mRNA表达的影响。方法:分离3～4级人肺小动脉,按照组织贴块法原代培养人肺动脉平滑肌细胞,分成对照组、缺氧组、缺氧+埃他卡林或吡那地尔组及缺氧+埃他卡林或吡那地尔+格列本脲组,应用实时荧光定量逆转录聚合酶链反应(FQ-RT-PCR)技术检测细胞PCNA mRNA表达。结果:缺氧使人肺动脉平滑肌细胞PCNA mRNA表达增加(3.90±0.24)倍,与对照组比较差异有显著性(P<0.01);相同条件下,在缺氧的同时,分别在培养液中加入IPT 10-7、10-6、10-5 mol/L,PCNA mRNA表达分别下降(26.00±2.01)%、(55.33±4.04)%、(79.00±1.00)%,与缺氧组比较差异均有显著性(P均<0.01);加入IPT 10-5mol/L前30 min,预先加入格列本脲(GLI)10-5 mol/L,IPT的抑制作用抵消,与缺氧+IPT 10-5 mol/L组比较差异有显著性(P<0.01)。结论:IPT通过激活细胞KATP通道,浓度依赖性地抑制缺氧时原代培养人肺动脉平滑肌细胞PCNA mRNA表达的增加。

Depressive Effect of the Antisense Oligonucleotides of C-myc and PCNA on the Proliferation of VSMC

Objectives To study the depressive effect of the antisense oligonuceotides （ASODN） of c-myc and proliferating cell nuclear antigen （PCNA） on the proliferation of VSMC. Methods Taking the VSMC obtained from rat aorta tho- racalis cultured 4 - 8 generation as research object. The objects were divided into three groups to carry out control study： control group, PCNA ASODN group and c-myc ASODN group. The ASODNs＇ working concentration all were 1 ： 50. The depressive effect of ASODN on VSMC proliferation was investigated by cell counting, MTT and ^3H-TdR incorporation assay; PCNA and c-myc expression were detected by immunohistochemical method after transferring PCNA and c-myc ASODN into VSMC. Results ① PCNA and c-myc ASODN could inhibit the proliferation of VSMC significantly, compared with control group （ P 〈 0. 05）. ②Transferring PCNA and c-myc ASODN into VSMC obtained successfully ; the corresponding gene was inhibited obviously ; compared with control group （ P 〈 0. 05 ）. Conclusions PCNA and c-myc might play a considerable role in the VSMC proliferation process. The corresponding gene could be depressed successfully after transferring PCNA and c-myc ASODN into VSMC, and then the proliferation of VSMC was slowed down. This study presented a beneficial proposal and theoretical fundament for atherosclerotic treatment.

SMOOTH MUSCLE TUMORS OF THE GASTROINTESTINAL TRACT EXPRESSION OF RAS P21 ONCOGENE PRODUCT AND THE ASSOCIATION WITH CLINICOPATHOLOGY

Quantitative analysis of ras oncogene product P21 was performed on paraffin blocks from 55 smooth musele tumors of the gastrointestinal tract by immunofluorescence and flow cytometry.No positive evidence for P21 was found in 5 cases of normal smooth muscle tissues.

Interleukin-1β,Tumor Necrosis Factor-α and Lipopolysaccharide Induce Expression of Monocyte Chemoattractant Protein-1 in Calf Aortic Smooth Muscle Cells

Summary: To investigate whether interleukin-1β(IL-1β), tumor necrosis factor-α (TNF-α) and lipopolysaccharide (LPS) induce expression of monocyte chemoattractant protein-1 (MCP-1 ) mRNA and protein in calf aortic smooth muscle cells(SMCs), calf aortic SMCs were cultured by a substrate-attached explant method. The cultured SMCs were used between the third to the fifth passage. After the cells became confluent, the SMCs were exposed to 2 ng/ml IL-1β, 20ng/ml TNF-1α and 100 ng/ml LPS respectively, and the total RNA of SMCs which were incubated for 4 h at 37℃ were extracted from the cells by using guanidinium isothiocyanate method. The expres- ion of MCP-1 mRNA in SMCs was detected by using dot blotting analysis using a probe of γ-32 P- end-labelled 35-mer oligonucleotide. After a 24-h incubation, the media conditioned by the cul- tured SMCs were collected. The MCP-1 protein content in the conditioned media was determined by using sandwich ELISA. The results were as follows: Dot blotting analysis showed that the cul- tured SMCs could express MCP-1 mRNA. After a 4-h exposure to IL-1β, TNF-α and LPS, the MCP-1 mRNA expression in SMCs was increased (3.6-fold, 2. 3-fold and 1. 6-fold, respectively). ELISA showed that the levels of MCP-1 protein in the conditioned media were also increased (2.9- fold, 1.7-fold and 1.1-fold, respectively). The results suggest that calf aortic SMCs could ex- press MCP-1 mRNA and protein. IL-1β and TNF-α can induce strong expression of MCP-1 mRNA and protein, and the former is more effective than the latter.

Rosuvastatin inhibits the smooth muscle cell proliferation by targeting TNFα mediated Rho kinase pathway

ObjectiveTo 调查是否肿瘤坏死 Factor-alpha ( TNF&#x003b1 ；)能够激活导致光滑的肌肉房间增长和 Rosuvastatin 的干预功能的 Rho kinase 小径，并且由光滑的肌肉房间是的 Rosuvastatin.MethodsWistar 出生不满一月的婴儿老鼠澄清机制和反动脉粥样硬化的干预举止有教养，并且房间增长的活动被甲基 thiazolyl tetrazolium ( MTT )决定。在 TNF&#x003b1 的刺激以后的 Rho kinase 基因的表示；被 RT-PCR 评估。西方的污点方法被用来测量增殖的房间的蛋白质表示在 TNF&#x003b1 以后的原子抗原(PCNA ) ；在光滑的肌肉 cell.ResultsThe TNF&#x003b1 的刺激和 Rosuvastatin 干预；刺激显著地提高了 Rho kinase 的表示并且在光滑的肌肉房间增加了 PCNA 蛋白质的表示(P &#x0003c；0.05 ) 。而另外的 Rosuvastatin 管理禁止了，这些效果断然与延长处理被相关上述效果(P &#x0003c；0.05 ) TNF&#x003b1 的 .ConclusionsThe 激活；调停的 Rho kinase 发信号小径能显著地支持光滑的肌肉房间增长，并且 Rosuvastatin 不能仅仅禁止这条小径而且导致的增长。

轻度慢性阻塞性肺疾病的病理特征及其与炎性因子的相关性

目的 探索轻度慢性阻塞性肺疾病(COPD)患者肺组织病理特征及其与炎性因子的相关性。方法 前瞻性纳入因肺小结节行手术治疗的患者70例,分为正常组10例、轻度COPD组50例、中重度COPD组10例。肺组织分别经HE、Masson、EVG染色后评估病理改变;免疫组化染色检测肺组织平滑肌肌动蛋白(SMA)、肌动蛋白(Actin)、CD31蛋白表达;免疫组化及q PCR检测肺组织肿瘤坏死因子(TNF)-α、白细胞介素(IL)-10蛋白及mRNA水平。结果 轻度COPD肺组织可见肺泡间隔增宽,小气道扩张,血管壁轻度增厚,多见以淋巴细胞为主的炎症反应。免疫组化染色提示轻度COPD肺组织中SMA、Actin蛋白含量较正常组升高(P<0.05)。此外,轻度COPD肺组织中TNF-α的mRNA水平及TNF-α阳性率明显高于正常组,而IL-10的mRNA水平明显低于正常组(均P<0.05)。SMA、Actin与炎性因子TNF-α阳性表达呈正相关,而与IL-10阳性表达呈负相关(均P<0.05)。结论 轻度COPD肺组织主要病理改变包括以小血管平滑肌层增厚为特征的肺小血管重构和以淋巴细胞浸润为主的炎症反应,同时促炎因子TNF-α升高和抗炎因子IL-10降低与COPD病理改变相关。

胃肠充盈超声造影检查补充诊断胃黏膜下微小占位病灶1例

背景胃壁黏膜下病变体积过小或突出于胃腔外时,胃镜检查不易发现且易造成漏诊.病例简介本例患者胃镜首诊提示胃底黏膜下隆起型肿物,电子计算机断层扫描检查提示胃底黏膜下隆起型肿物为胃底间质瘤伴出血,该患者术前行胃肠充盈超声造影检查术前定位并补充诊断,明确了胃底间质瘤大小、内部回声及位置后,另于胃体小弯侧垂直部检出一大小5 mm×6 mm实性结节,患者行胃部病灶切除术,验证了胃底及胃体小弯侧垂直部2个病灶.结论术后病理及免疫组化证实胃底肿物为中危型胃间质瘤,胃体小弯侧垂直部为胃平滑肌瘤.胃肠充盈超声造影检查互补检出了前述两项检查未提示的胃体黏膜下小的占位性病灶.该项检查对胃黏膜下微小病变及向腔外突出的病灶,因其简便快捷精准有独特优势,可作为胃肠疾病首选的影像学互补检查手段.

人参皂甙Rh2对大鼠主动脉STAT3、PCNA及SM22α表达的影响

目的:探讨人参皂甙Rh2(GS-Rh2)对大鼠主动脉信号转导及转录激活蛋白3(STAT3)、增殖细胞核抗原(PCNA)以及血管平滑肌22α蛋白(SM22α)表达的影响。方法:40只6周龄雄性普通级大鼠随机分为正常对照组、阳性对照组、雷帕霉素组、人参皂甙组。正常对照组,正常饮食喂养13周;其余3组高脂饮食喂养13周。13周后,处死大鼠后留取血标本,检测血脂及IL-6,留取主动脉标本,放入液氮罐中保存,提取总蛋白,做Western Blot检测,观察主动脉组织STAT3、PCNA及SM22α表达强度变化。结果:和正常对照组相比,阳性对照组血脂明显增高,血IL-6水平升高,主动脉STAT3、PCNA蛋白表达增加,SM22α蛋白表达减少;和阳性对照组相比,雷帕霉素组、GSRh2组血脂无显著性差异,血IL-6水平下降,主动脉STAT3、PCNA蛋白表达减少,SM22α蛋白表达增加。结论:人参皂甙Rh2可以抑制大鼠主动脉STAT3的表达,可以抑制主动脉平滑肌细胞增殖,并抑制主动脉平滑肌细胞由分化型向合成型转化,GS-Rh2可能通过抑制STAT3的表达而起到抑制平滑肌细胞增殖和表型转化的作用。

Classification of submucosal tumors in the gastrointestinal tract

This review is part two of three, which will present an update on the classification of gastrointestinal submucosal tumors. Part one treats of the diagnosis and part three of the therapeutic methods regarding gastrointestinal submucosal tumors. In the past there has been some confusion as to the classification of gastrointestinal submucosal tumors. Changes in classifications have emerged due to recent advances in mainly immunohistochemistry and electron microscopy. The aim of this paper is to update the reader on the current classification. Literature searches were performed to find information related to classification of gastrointestinal submucosal tumors. Based on these searches the twelve most frequent submucosal tumor types were chosen for description of their classification. The factors that indicate whether tumors are benign or malignant are mainly size and number of mitotic counts. Gastrointestinal stromal tumors are defined mainly by their CD117 positivity. In the future, there should be no more confusion between gastrointestinal stromal tumors and other types of submucosal tumors.2007 The WJG Press. All rights reserved.

肿瘤相关成纤维细胞作为预测非肌层浸润性膀胱癌复发的生物标志物的评估

目的:探究肿瘤相关成纤维细胞作为生物学标志物预测非肌层浸润性膀胱癌(non-muscle invasive bladder cancer,NMIBC)患者术后复发的临床意义。方法:从基因表达综合(Gene Expression Omnibus,GEO)数据库下载转录组数据以及对应的临床信息,分析原发性和复发性膀胱癌样本中ACTA2的表达差异。免疫组织化学法(immunohistochemistry,IHC)检测56例膀胱癌样本中α-平滑肌肌动蛋白(α-smooth muscle actin,α-SMA)表达。绘制无复发生存曲线(recurrence-free survival,RFS)和时间依赖性受试者工作特征曲线(time-dependent receiver operating characteristic curves,tdROC)。采用单变量和多变量Cox比例风险回归模型分析α-SMA作为膀胱癌患者术后复发的预测因素的可行性。结果:GSE13507、GSE120739和GSE128959数据集复发组中ACTA2的表达均高于原发组(P<0.05)。IHC结果显示,α-SMA蛋白定位在肿瘤间质,复发组中α-SMA阳性/强阳性占比56.52%,而在原发组中占比16.13%,差异有统计学意义(P<0.001)。α-SMA蛋白表达与年龄、性别、病理分期、分级、肿瘤数量和大小等指标无明显相关性。α-SMA高表达组患者术后RFS较低表达组患者明显缩短[风险比(hazard ratio,HR)=2.76,95%可信区间(confidence interval,CI)=1.21~6.30,P=0.016]。多变量Cox分析显示,α-SMA蛋白表达水平是影响患者术后RFS的独立危险因素(HR=2.47,95%CI=1.02~5.97,P=0.045)。tdROC曲线提示α-SMA对复发的预测能力优于其他临床因素。结论:肿瘤间质的α-SMA蛋白表达水平与膀胱癌复发密切相关,可作为临床预测NMIBC患者术后复发的标志物。

延胡索酸水合酶缺陷型子宫平滑肌瘤40例临床病理分析

目的探讨延胡索酸水合酶缺陷型子宫平滑肌瘤(fumarate hydratase-deficient uterine leiomyomas,FH-d UL)的临床病理学特征。方法应用组织芯片结合免疫组化延胡索酸水合酶(fumarate hydratase,FH)和S-(2-琥珀酸)-半胱氨酸[S-(2-succino)-cysteine,2SC]对1389例子宫平滑肌肿瘤(uterine smooth muscle tumors,USMT)进行检测,筛查FH-d UL,采用Sanger测序技术检测FH-d UL中FH基因突变情况,回顾性分析其临床病理学特征,并复习相关文献。结果1389例USMT中筛选出40例FH-d UL,其在不同病理类型USMT中的发生率从高到低依次为子宫平滑肌瘤伴奇异核(leiomyomas with bizarre nuclei,LBN)(55.6%,10/18)、恶性潜能未定的平滑肌肿瘤(smooth muscle tumor of uncertain malignant potential,STUMP)(12.5%,1/8)和普通型子宫平滑肌瘤(2.2%,29/1324)。FH-d UL患者平均年龄为(35.7±8.3)岁,55%(22/40)有临床症状,60%(24/40)为多发性(≥2枚)肌瘤,肌瘤最大径0.3~13.1 cm。组织学上,FH-d UL均表现出一个或多个FH-d形态学。免疫表型:35例为FH-/2SC+,5例为FH+/2SC+。Sanger测序结果显示,5%(2/40)测序失败,23.7%(9/38)检测到体细胞突变。随访期内无死亡,12.5%(5/40)复发,发病年龄(<30岁)、有家族肿瘤史与患者术后的复发风险显著相关(P均<0.05)。结论FH-d UL临床少见,在形态学上与LBN有交叉重叠,联合应用FH和2SC有助于FH-d UL的筛查,但遗传性平滑肌瘤病和肾细胞癌综合征的诊断尚需结合临床病史和胚系突变检测。当患者年龄<30岁、有家族肿瘤史时,需警惕其复发风险。