上皮样血管平滑肌脂肪瘤的病理诊断与临床分析

目的探讨上皮样血管平滑肌脂肪瘤的临床病理特征及鉴别诊断。方法回顾性分析5例上皮样血管平滑肌脂肪瘤的临床和病理改变状况,以及组织形态和免疫组化标记物的表达特点。结果组织学显示上皮样血管平滑肌脂肪瘤的肿瘤细胞多呈巢状或片状排列,体积大,多形性或梭形,有丰富的嗜酸性颗粒状胞浆,细胞核较大,核仁明显呈空泡状,可见特征性的血管样结构以及上皮样肿瘤细胞围绕血管呈袖套样排列,肿瘤成分缺少脂肪组织,免疫组织化学染色示肿瘤细胞HMB-45,Melan-A弥漫阳性。结论上皮样血管平滑肌脂肪瘤是一种具有恶性潜能的间叶源性肿瘤,免疫组化对鉴别有重要意义。     

肾上皮样血管平滑肌脂肪瘤诊治探讨

目的 提高肾上皮样血管平滑肌脂肪瘤(EAML)的诊治水平.方法 肾EAML患者5例.男3例,女2例.平均年龄46(26～64)岁.患侧腰部胀痛3例,体检偶然发现2例.肿瘤直径2.9～10.1 cm.B超和CT检查诊断为血管平滑肌脂肪瘤2例,肾癌、肾上腺肿瘤、肝癌各1例.行肾肿瘤剜除术3例,肾楔形切除术1例,肾切除术1例.结果 病理报告:肿瘤由不同比例的异常厚壁血管、平滑肌和脂肪组织构成.上皮样细胞胞质浓密嗜酸性或透亮,有嗜酸性颗粒,并有丰富的血管,上皮样细胞簇常围绕血管.组织学形态表现为圆形、多边形和梭形上皮样细胞灶性分布于脂肪瘤中,上皮样瘤细胞免疫组化标记SMA、Vimentin、HMB45表达阳性.5例病理诊断均为肾EAML.随访2～12个月,未见局部复发及远处转移.结果 肾EAML由厚壁血管、脂肪和平滑肌细胞混合组成,上皮样细胞簇常围绕血管.确诊依赖于临床、影像学及病理学检查相结合,免疫组织化学染色有助于诊断及鉴别诊断.早期诊断及完整切除肿瘤是治疗关键.     

肝血管平滑肌脂肪瘤八例报告

目的：探讨肝血管平滑肌脂肪瘤（AML）的临床表现、诊断、治疗和预后。方法：对1989-2000年间我院手术和病理学检查证实的8例肝AML临床资料进行回顾性分析研究。结果：男3例，女5例。发病年龄25-59岁（平均39.6岁）。肝左叶3例，右叶5例。8例均行超声和CT检查。2例行MRI检查。2例行肝动脉造影。免疫组织化学染色：肿瘤平滑肌样细胞表达HMB-45阳性。8例均手术切除。除1例死于术后心功能衰竭，其余7例随访9个月至12年，未见肿瘤复发。结论：综合影像学检查有助于该肿瘤特征的显示和术前正确诊断。肿瘤平滑肌样细胞表达HMB45阳性，是诊断肝AML的可靠依据。手术切除是肝血管平滑肌脂肪瘤的有效治疗手段。     

肾上皮样血管平滑肌脂肪瘤2例报告并文献复习

目的提高对肾上皮样血管平滑肌脂肪瘤的认识,探讨其诊治方法。方法报告2例经本院收治的肾上皮样血管平滑肌脂肪瘤患者的临床资料,回顾性分析其临床特征及影像学表现。2例患者有1例有腹痛症状,1例无临床症状。术前超声检查均提示混合回声占位,占位可见血流信号。CT检查呈现不均匀强化。术前均诊断为肾脏恶性肿瘤。分析2例患者临床资料并检索Pubmed和CBM数据库,对该疾病相关文献进行复习。结果 2例患者均接受根治性肾切除手术治疗。术后病理提示肾上皮样血管平滑肌脂肪瘤,肿瘤均侵及脉管且有瘤栓形成。免疫组化染色HMB-45及Melan-A均阳性。2例患者分别获随访3个月及18个月,未见肿瘤复发。结论肾上皮样血管平滑肌脂肪瘤临床少见。其生物学行为可呈现恶性表现。确诊需要依靠病理结合免疫组化。手术是主要的治疗方法,在对肿瘤恶性行为进行判断时应该综合考虑病例临床特征、病理特点以及分子生物学指标。应该对患者进行长期密切随访。     

肾上皮样血管平滑肌脂肪瘤临床特点分析

目的 探讨肾上皮样血管平滑肌脂肪瘤的临床及病理特点.方法 肾上皮样血管平滑肌脂肪瘤患者6例.单发4例,多发2例.肿瘤直径平均9(5～14)cm.有结节硬化家族史1例.CT检查发现肿瘤内含脂肪组织(CT值-30～-120 HU)3例,诊断为肾血管平滑肌脂肪瘤;3例瘤组织CT值30～55 HU,增强扫描CT值70～110 HU.行肿瘤剜除术3例,行根治性肾切除术3例.结果 3例行肿瘤剜除术者肿瘤完整剜除,2例出现肾盂破损,行肾盂修补及留置双J管.其中1例双肾肿瘤者,2个月后手术剜除对侧肿瘤.3例根治性肾切除者完整切除肾脏、肾周脂肪组织及肿大淋巴结.病理检查:镜下肿瘤以上皮样细胞为主,并出现多形、异形核,有明显的上皮样分化,浸润破坏性生长,瘤组织广泛坏死.免疫组化染色HMB45(+++),EMA、CK(-).病理诊断均为肾上皮样血管平滑肌脂肪瘤.平均随访26(10～44)个月,肿瘤无复发及转移5例;1例根治术后18个月出现双肺转移,10个月后死亡.结论 肾上皮样血管平滑肌脂肪瘤多为良性,部分缺乏脂肪组织,主要由单核或多核的上皮样细胞构成,免疫组化染色HMB45强阳性为特征表现,具有潜在恶性倾向,可发生转移;CT检查易误诊为肾癌;手术为主要治疗方法.     

血管平滑肌脂肪瘤病理组织亚型及临床特点

目的 对全身56例血管平滑肌脂肪瘤(AML)进行分类,探讨其各个组织亚型的临床病理及免疫组织化学特点.方法 对全身56例AML患者进行临床病理回顾性分析,并进行组织亚型分类及免疫组织化学检查.结果 56例AML中,发生在肾脏43例,发生在肝脏9例,发生在腹膜后3例,发生在结肠1例.三相型43/56(76.9%);单相型6/56(10.7%);上皮样型6/56(10.7%);AML伴上皮囊肿1/56(1.7%).免疫组织化学染色显示:55例(98.2%)表达HMB45,54例(96.4%)表达Melan-A,28例(50.0%)表达CD1a,Ki-67的表达比例不一,CD34全部呈阴性表达.结论 AML可分为4种组织类型但诊断免疫标记相似,特征性表达HMB45、Melan-A、CD1a,手术效果均好.     

后肾腺瘤临床及病理特点分析（附1例报告并文献复习）

目的：探讨后肾腺瘤的临床及病理特点。方法：报告1例后肾腺瘤患者的临床及病理资料．并复习相关文献予以讨论。结果：患者行根治性右肾切除术。镜下见肿瘤细胞大小一致．呈腺样及小管状排列．胞质少．细胞无明显异型性,核分裂像少见;免疫组织化学染色：WT1Vimentin、CK、EMA均阳性．Syn、RCC、SMA、HMB15、CD10、CD34、CgA、Chr均阴性;病理学诊断符合后肾腺瘤特点。术后随访18个月．未她肿瘤复发和远处转移。结论：后肾腺瘤是一种罕见的来源于肾脏上皮组织的肿瘤．了解该肿瘤临床及病理特点有助于临床诊断及鉴别诊断。     

5例肝脏上皮样血管平滑肌脂肪瘤患者的临床病理资料分析

目的总结肝脏上皮样血管平滑肌脂肪瘤(hepatic epithelioid angiomyolipoma,HEAML)的临床病理和免疫表型特征并探讨其诊断与鉴别诊断方法。方法回顾性分析2011年8月至2017年12月期间淮安市第一人民医院病理科外科活检的5例HEAML患者的临床和影像学表现、病理学形态及免疫组织化学特征。结果 5例患者中男2例,女3例;年龄38～64岁,平均50岁。肝脏左叶肿瘤2例,右叶肿瘤3例。术前影像学检查有3例诊断为肝癌,有2例诊断为肝脏错构瘤和(或)血管瘤。肿瘤直径1.5～7.0 cm,平均3.6 cm。镜下肿瘤由较多上皮样平滑肌细胞、薄壁血管及少量脂肪混杂而成。免疫组织化学检测结果见melan-A、 HMB45及SMA均阳性,HepPar-1、AE1/AE3、EMA、CD117、Dog-1、CD10、CgA、Syn和Desmin均阴性, Ki-67增殖指数2%～10%。患者随访2～76个月(平均31.4个月),均无瘤存活,无一例复发或转移。结论 HEAML是肝脏少见的原发性间叶性肿瘤,应避免术前、术后病理检查中将其误判为肝脏其他良恶性肿瘤,影响临床处理及治疗,结合组织形态及免疫组织化学染色结果可进行诊断及鉴别诊断。     

肾原发性平滑肌肉瘤3例病理分析

目的探讨原发于肾脏的平滑肌肉瘤的临床病理学特点、诊断、鉴别诊断、治疗及组织发生。方珐对3例肾平滑肌肉瘤进行常规HE、组织化学及免疫组织化学染色观察。焙杲3例显微镜下表现、组织化学及免疫组织化学染色均显示平滑肌源性肿瘤的特点。由病理确诊，术前无1例怀疑平滑肌肉瘤。2例分别于术后2个月、38个月后死亡，1例术后至今无复发（42月）。结论肾原发性平滑肌肉瘤罕见，临床诊断较困难，但依靠肾切除标本的病理检查，结合组织化学染色和免疫组织化学染色可确诊。该肿瘤恶性度高，预后较差。     

D2-40、CD31、CD34在脾脏脉管瘤中的表达及意义

目的 探讨脾脏脉管瘤的病理形态特征、形成原因及鉴别诊断.方法 对7例脾脏脉管瘤病例进行病理形态观察,EnVision法进行免疫组织化学染色.结果 7例脾脏脉管瘤中,2例为血管瘤,脉管内皮细胞CD31、CD34表达阳性;2例淋巴管瘤,脉管内皮细胞D2-40表达阳性;3例血管淋巴管瘤,D2-40在淋巴管内皮细胞表达阳性,CD31、CD34在血管内皮细胞表达阳性.结论 脾脏脉管瘤是少见肿瘤,免疫表型D2-40、CD31、CD34检查阳性,对脾脏脉管诊断有较高价值.     

Renal angiomyolipoma: clinicopathologic study of 194 cases with emphasis on the epithelioid histology and tuberous sclerosis association

The majority of renal angiomyolipoma (AML) is sporadic and occasionally it occurs as part of tuberous sclerosis complex (TSC). Epithelioid AML (EAML), an uncommon variant, is considered potentially malignant based on anecdotal case reports. The prognostic significance of epithelioid component in an otherwise typical AML is uncertain. We studied 194 AMLs for the clinicopathologic features of epithelioid and TSC-associated AMLs. Epithelioid component was present in 15 cases (7.7%) with an average amount of 51% (range: 10% to 100%). Histologically, the epithelioid tumor cells were categorized into small, intermediate, and large cell type based on the cell size. Worrisome histologic features were seen in many EAMLs, including coagulative tumor necrosis in 27% (4/15), nuclear atypia in 93% (14/15), mitosis in 47% (7/15), and atypical mitosis in 1 case. All 15 EAML patients had a mean follow-up time of 5.1 years and none had local recurrence or distant metastasis. Sixteen (8.2%) AMLs occurred in patients with definitive TSC. Three histologic features, namely microscopic AML foci, epithelioid component, and epithelial cysts, were present in 10 (62.5%), 4 (25%), and 44% (7/16), respectively, of TSC-associated AMLs, compared with 11 (6.2%), 11 (6.2%), and 6 (3.4%), respectively, in non-TSC-associated AMLs (P value all <0.01). In summary, all 15 cases of EAMLs in our study had benign clinical outcomes despite adverse pathologic features. Epithelioid component, epithelial cysts, and microscopic AML foci are strongly associated with TSC and the presence of all 3 features should raise strong suspicion for TSC.     

KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications

The diagnosis of gastrointestinal stromal tumor (GIST) is currently based on morphologic features and immunohistochemical demonstration of KIT (CD117). However, some tumors (in our estimation approximately 4%) have clinicopathologic features of GIST but do not express KIT. To determine if these lesions are truly GISTs, we evaluated 25 tumors with clinical and histologic features typical of GIST, but with negative KIT immunohistochemistry, for KIT and PDGFRA mutations using DNA extracted from paraffin-embedded tissue. Most tumors originated in the stomach (N = 14) or omentum/mesentery (N = 5). The neoplasms were composed of epithelioid cells (13 cases), admixed epithelioid and spindle cells (8 cases), or spindle cells (4 cases). Absence of KIT expression was confirmed by immunoblotting in 5 cases. Tumor karyotypes performed in 4 cases were noncomplex with monosomy 14 or 14q deletion, typical of GIST. Mutational analysis revealed PDGFRA and KIT mutations in 18 and 4 tumors, respectively, whereas 3 tumors did not have apparent KIT or PDGFRA mutations. The PDGFRA mutations primarily involved exon 18 (N = 15) and included 11 tumors with missense mutation in codon 842 (PDGFRA D842V or D842Y). In conclusion, a small subset of GISTs with otherwise typical clinicopathologic and cytogenetic features do not express detectable KIT protein. When compared with KIT-positive GISTs, these KIT-negative GISTs are more likely to have epithelioid cell morphology, contain PDGFRA oncogenic mutations, and arise in the omentum/peritoneal surface. Notably, some KIT-negative GISTs contain imatinib-sensitive KIT or PDGFRA mutations; therefore, patients with KIT-negative GISTs should not, a priori, be denied imatinib therapy.     

Lymphohistiocytoid variant of malignant mesothelioma of the pleura: a series of 22 cases

The lymphohistiocytoid variant of diffuse malignant mesothelioma is rare with very few cases described in the literature. It is characterized by mesothelial cells with a histiocytelike appearance and an associated dense lymphoid infiltrate. We studied clinicopathologic features and immunohistochemical patterns of a series of 22 cases. The histiocytelike cells had a mesothelial immunophenotype: AE1/AE3 (100%), calretinin (100%), CK5/6 (46%), and EMA (52%). The prominent lymphoid component showed a cytotoxic T-cell immunophenotype. Prognosis was similar to that of a large series of epithelioid diffuse malignant mesotheliomas. Formely, it was classified within the sarcomatoid type. We suggest that it should be reclassified as an epithelioid variant because of its similar behavioural characteristics. There was no evidence of Epstein-Barr virus-related infection.     

肾混合性上皮间质瘤1例报告并文献复习

目的：探讨肾混合性上皮间质瘤（MESTK）的临床及病理学特征。方法：回顾性分析1例MESTK患者的诊治情况，并复习有关文献探讨其临床特征。结果：MESTK常见于成年女性，大多由实性或伴囊性成分混合而成。组织学上以不等量增生的腺上皮和不同排列方式的梭形细胞间质混合组成为特征，尤以瘤性梭形细胞间质增生为主体，形似平滑肌原性肿瘤。结论：MESTK为一种独立的肾良性肿瘤，应与先天性中胚层肾瘤及其他肾肿瘤相鉴别。     

肾上皮样血管平滑肌脂肪瘤1例报告及文献复习

目的：探讨肾上皮样血管平滑肌脂肪瘤（EAML）的临床病理特征、诊断、鉴别诊断、治疗方法及预后。方法：通过观察1例肾EAML患者的临床病理学表现与免疫组化标记并复习有关文献,讨论其组织学特征及临床生物学行为。结果：CT平扫呈略高密度实性肿块,边界清楚,病灶内无明显脂肪密度;增强扫描密度相对均匀,实质期强化程度最高,排泄期密度下降较少。镜检示肿瘤细胞弥漫分布,瘤体主要成分为上皮样细胞,细胞异型性明显,大小形状不等,核大且染色明显加深,偶有多核巨细胞,核分裂像明显。免疫组化染色显示瘤细胞HMB45＋,SMA＋,CK-。结论：病史、体检结合影像学检查能够给我们提供重要的诊断线索,组织病理学特点结合免疫组化标记有助于该疾病的确诊,治疗方法以手术切除为主,对于预后较差的患者应按照肾细胞癌标准长期随访。     

Epithelioid hemangioma versus Kimura's disease. A comparative clinicopathologic study

A clinicopathologic and immunohistochemical study of eight cases of epithelioid hemangioma and 11 cases of Kimura's disease was performed. Patients with epithelioid hemangioma (EH) ranged in age from 15 to 56 years (mean, 37 years) and had small papular or nodular lesions occurring most often on the face and scalp. The lesions were less than 2.0 cm in diameter. There were irregularly hypertrophic vascular structures with swollen endothelial cells and of a variable lymphoid infiltrate with eosinophils. The clustering of small vessels around the arteries or veins was another distinctive feature. Arteriovenous shunts were evident in three lesions. Patients with Kimura's disease, however, presented large solitary or multiple nodules occurring most commonly in the periauricular region. Six patients had a history of regional lymphadenopathy; three patients had eosinophilia of the peripheral blood. Microscopically, the distinctive features were of numerous lymphoid follicles and a salient eosinophilic infiltrate. These lymphoid follicles possessed distinct germinal centers and contained an increased number of dendritic cells. Although some small-vessel proliferation was noted, it was not as distinctive as for patients with epithelioid hemangioma. We conclude from this study that the two conditions should be considered different entities.     

INI1-deficient tumors: diagnostic features and molecular genetics

Significant progress has been made in understanding the molecular genetic alterations involved in sarcomagenesis. Cytogenetic and molecular studies have identified nonrandom genetic abnormalities, including tumor suppressor gene inactivation. Mutations, deletions, and other somatic alterations in the tumor suppressor gene INI1 (hSNF5; SMARCB1), which encodes a subunit of the SWI/SNF chromatin remodeling complex, were first described in the malignant rhabdoid tumor of infancy. Since then, INI1 has also been implicated in the pathogenesis of additional tumor types including renal medullary carcinomas and epithelioid sarcomas and a subset of epithelioid malignant peripheral nerve sheath tumors, myoepithelial carcinomas, and extraskeletal myxoid chondrosarcomas. As varied as this group appears, they all show loss of INI1 protein expression, a propensity for rhabdoid cytomorphology, and sometimes other overlapping immunohistochemical and histologic findings. We will review the clinicopathologic features of these tumor types and emphasize the clinical utility of INI1 immunohistochemistry in differential diagnosis.     

Sprouty2蛋白在肾透明细胞癌组织中的表达及意义

目的检测肾透明细胞癌及癌旁组织标本中Sprouty2蛋白的表达情况,分析其表达水平与肿瘤的临床进展及患者预后的相关性。方法采用免疫组化与Western blot方法对92例根治性肾切除肿瘤及癌旁组织标本以及8例非肿瘤肾组织中Sprouty2的表达进行检测,并结合临床病理学资料及预后进行统计学分析。结果肾癌中Sprouty2蛋白的表达较癌旁及非肿瘤肾组织中的表达显著减少,并且与肿瘤大小、有无转移、高分期、高分级有相关性(P均0.01)。Kaplan-Meier生存分析显示Sprouty2低表达组与高表达组之间差异有统计学意义(P0.01),单因素及多因素回归分析显示Sprouty2的表达水平可作为一个独立参数以评估肾癌患者的预后。结论 Sprouty2的低表达与肾癌的发生及进展相关,可能作为肾癌预测及预后评估的指标。