胃TFE3阳性富含色素的血管周上皮样细胞肿瘤1例

胃血管周上皮样细胞肿瘤(PEComa)是一种罕见发生于胃的具有血管周上皮样细胞特征的间叶性肿瘤。本文报道1例发生于胃体上部前壁黏膜下PEComa。内镜下行黏膜下肿物挖除术, 术后病理组织形态表现为富含色素的上皮样肿瘤细胞被含小血管网的间质分隔成巢状。免疫组织化学HMB45、结蛋白、TFE3阳性。最终诊断:胃TFE3阳性富含色素的PEComa。通过分析本例肿瘤临床病理特征, 对胃肠道PEComa临床病理特征、免疫组织化学及分子检测进行回顾性分析, 以提高病理医师对胃肠道PEComa的认识。     

子宫血管周上皮样细胞肿瘤2例报道及文献复习

子宫血管周上皮样细胞肿瘤（perivascular epithelioid cell tumor,PEComa）是一种少见的肿瘤,有其特有的镜下特点和免疫组化特征。现收集2例子宫PEComa病例,并结合文献探讨其诊断和鉴别诊断,以提高对该病的认识。     

子宫血管周上皮样细胞肿瘤3例临床病理分析

目的探讨子宫血管周上皮样细胞肿瘤(perivascular epithelioid cell tumor,PEComa)的临床病理特征、诊断及鉴别诊断等。方法采用免疫组化EnVision两步法对3例子宫PEComa进行检测,并复习相关文献。结果3例肿瘤由梭形细胞和上皮样细胞构成,胞质透明至嗜酸性,间质血管丰富,其中1例肿瘤细胞异型性显著,并见出血、坏死。免疫表型:3例HMB-45阳性,2例SMA、Caldesmon阳性,Melan-A、TFE-3、desmin、CD10、CD117和S-100蛋白均阴性,Ki-67增殖指数5%~30%。随访4~55个月,患者均存活。结论子宫PEComa是一种少见的间叶源性肿瘤,结合组织学形态及免疫表型可辅助诊断。     

原发性皮肤血管周细胞肿瘤:皮肤独特的透明细胞病变

血管周细胞肿瘤（PEComa）定义为组织学和免疫组化上由独特的血管周上皮样细胞组成的间叶性肿瘤，该肿瘤常发生于后腹膜、腹腔脏器和盆腔，而发生于躯体软组织和皮肤者非常罕见。作者报道了10例原发于皮肤的PEComa，女性8例，男性2例，年龄15～81岁（平均52岁）。临床表现为无痛性、缓慢生长的真皮结节或斑块，无1例病人有结节性硬化综合症表现。     

血管周上皮样细胞肿瘤免疫表型分析

目的 研究血管周上皮样细胞肿瘤(PEComa)的免疫表型和分子遗传学改变及其与临床病理特征的关系.方法 收集25例PEComa患者的存档蜡块、病理及临床资料,采用免疫组织化学(SP法或EnVision法)检测相关免疫标志物,同时以多种肿瘤进行对照.运用荧光原位杂交(FISH)方法检测25例PEComa中TFE3基因的易位及扩增情况.结果 25例患者年龄21 ～61岁(平均43岁),男女比例为1∶1.3.22例为肝脏和肾脏的血管平滑肌脂肪瘤(AML),由成熟脂肪组织、梭形或上皮样平滑肌细胞和特征性的厚壁血管组成;3例为肝肾外PEComa,形态与经典AML有明显区别,肿瘤由单行性上皮样或梭形细胞构成,呈片状、巢状排列.免疫组织化学结果显示:25例PEComa组织蛋白酶K(cathepsin K)均呈强阳性(100％,25/25),HMB 45、Melan A和平滑肌肌动蛋白(SMA)的阳性率分别为80％ (20/25)、88％ (22/25)和88％(22/25),阳性瘤细胞占所有瘤细胞的百分比平均值:cathepsin K为90％、HMB 45为36％、Melan A为41％、SMA为35％.TFE3在肝肾AML中全部阴性(22/22),而在肝肾外PEComa中均为阳性(3/3).经FISH证实25例PEComa均不存在TFE3基因融合或扩增.结论 肝肾外PEComa的组织学形态与经典AML有明显区别,其发病与TFE3蛋白高表达关系密切,可能为独立的PEComa分子亚型.cathepsin K在PEComa中阳性率高,敏感性优于HMB 45、Melan A和SMA,可用于PEComa与其他常见的多种肿瘤的鉴别诊断.     

胃肠道TFE3阳性血管周上皮样细胞肿瘤2例临床病理学特征

目的探讨发生在胃肠道, 转录因子E3基因(TFE3)阳性血管周上皮样细胞肿瘤(PEComa)的病理学特征及生物学行为。方法收集2例发生于肠道的恶性PEComa, 并复习相关文献。结果肿瘤浸润肠壁全层, 呈巢片状生长, 均见灶性坏死。肿瘤细胞上皮样, 异型性明显, 核分裂象易见。2例肿瘤细胞均表达黑色素细胞标志物HMB45, 并且伴肌源性标志物表达缺失, 如平滑肌肌动蛋白和结蛋白, 2例免疫组织化学均显示TFE3核阳性, 其中1例行TFE3(Xp11.2)基因断裂探针荧光原位杂交检测, 结果示TFE3基因断裂。结论胃肠道原发, 特别是TFE3阳性的PEComa较为少见, 且临床病理特征有别于一般的PEComa, 需与多种疾病鉴别, 应熟悉其临床病理特征, 避免误诊。     

恶性血管周上皮样细胞肿瘤2例并文献复习

目的 探讨恶性血管周上皮样细胞肿瘤(malignant perivascular epitheliod cell tumor,PEComa)的临床、病理特征及鉴别诊断.方法 对2例恶性PEComa进行临床、病理形态学、免疫表型及电镜观察,并复习相关文献.结果 镜下见肿瘤组织由梭形细胞及上皮样细胞构成,细胞异型性明显,细胞胞质透明或嗜酸,细胞核大,有核仁,瘤细胞由纤细的纤维结缔组织及薄壁血管将其分隔成巢状、腺泡状、片状结构,部分区域可见多核瘤巨细胞伴肿瘤坏死,核分裂多见.免疫表型:肿瘤细胞表达HMB-45、S-100、SMA及desmin;电镜下见肿瘤细胞胞质内可见高电子密度核心的内分泌小体和少许不成熟的黑色素小体.结论 恶性PEComa罕见,病理形态多样,熟悉其临床、病理形态、免疫表型及电镜下改变,有助于临床、病理医师对其正确诊断及鉴别诊断.     

子宫体恶性血管周上皮样细胞肿瘤1例并文献复习

目的 探讨子宫体恶性血管周上皮样细胞肿瘤(perivascular epithelioid cell tumors,PEComa)的临床病理学特征、诊断及鉴别诊断.方法 采用免疫组化SP法对1例子宫体恶性PEComa进行免疫组化标记并复习相关文献.结果 患者扪及下腹部巨大肿块6个月,手术切除后11个月复发,CT示中下腹一巨大低-高密度混杂肿块.眼观:原发和术后复发肿瘤均体积巨大,切面为灰黄、灰红色,边界不清,质脆伴坏死.镜检:瘤细胞呈上皮样,胞质嗜酸性至透明,细胞异型性明显,可见明显核仁,未见核分裂.免疫组化:vimentin、HMB-45和Melan-A均(++),PNL2(|||),Ki-67增殖指数约3%,EMA、CK(AE1/AE3)、S-100、CD10、desmin、SMA和MSA均(-).结论 子宫体恶性PEComa十分罕见,需与子宫体恶性黑色素瘤、上皮样平滑肌肿瘤和横纹肌肉瘤相鉴别.     

硬化型血管周细胞肿瘤:一种好发于腹膜后的特殊亚型的血管周细胞肿瘤

血管周细胞肿瘤（PEComa）是一类显示血管周上皮样分化的相关的间叶性肿瘤，可发生于肠系膜、网膜、胃肠道、子宫、软组织等。作者报道了一种伴有广泛间质透明变性的特殊亚型的PEComa，该组病例共13例，均为女性，年龄34～73岁，平均49岁，其中77％（10例）发生于50～60岁。大体上肿瘤大小4．5cm～28cm，平均9．5cm，其中6例大于10cm。     

非特殊性血管周上皮样细胞肿瘤31例的病理学观察

目的 探讨非特殊性血管周上皮样细胞肿瘤(PEComa-NOS)的临床病理学特征,评价恶性血管周上皮样细胞肿瘤(PEComa)的诊断标准.方法 回顾性复习31例PEComa-NOS的临床表现、影像学资料、光镜形态和免疫学表型,分析预后资料.2例为空芯针穿刺活检标本,2例为剖腹探查活检标本,其余27例为手术切除标本.结果 ...     

Level of functioning of siblings and parents of probands of varying degrees of retardation

A further analysis of already published data supports the position that retardates of low ability level less frequently have retarded siblings, retarded parents, and parents low in occupational level than do retardates higher in ability level. The analysis supports the position that there are two types of retarded individuals, persons retarded as a result of gene or chromosomal anomalies, brain injury, etc., who more frequently occur in the lower-level retardate group, and persons whose retardation represents polygenic segregation, who more frequently occur in the higher-level group.     

Modes of Inheritance of Errors of Refraction

Eighteen families in which both parents had refractions within the range of +4·0 D to −4·0 D and axial lengths seen in emmetropia (22·3-26·0 mm) showed coefficients of correlation of the order 0·5 indicative of polygenic inheritance. Such coefficients were seen for axial length (0·407) and for the cornea (0·487), but not for the lens (which is known to be yoked to the axial length). No such coefficients were seen in 19 families in which one of the parents had axial length outside the emmetropic range (nine families with long axes and 10 with short axes).

The pattern of polygenic inheritance for emmetropia (completely correlated optical components) and errors of refraction up to 4·0 D (inadequately correlated components: correlation ametropia) follows that seen in stature and other measurable characters. In contrast the high refractive errors with their abnormal axial lengths (component ametropia) are—like the extremes in stature—pathological anomalies with monofactorial inheritance.

     

Aspects of the problem of direct introduction of Standards of International Organizations

Editorial note. This article is published as part of a discussion. Particular issues of the article are disputable. First of all, this concerns the so-called “folder” method of introduction of international standards for medical devices to domestic medical practice (i.e., by direct translation of the standards and their publication as standardizing documents). Nevertheless, at least one of the problems, the problem of coordination between domestic state standards for medical devices and international recommendations of ISO and IEC, is undoubtedly of topical importance. Advancement of new health service legislation which is to be approved by law-makers will definitely introduce corrections into the present situation. The Editorial Board of Meditsinskaya Tekhnika believes this article will lessen these problems and to be welcomed by readers.