横纹肌肉瘤分子病理学研究进展

横纹肌肉瘤（rhabdomyosarcoma,RMS）为常见的软组织肿瘤之一,它是由不同分化阶段的横纹肌母细胞组成的恶性肿瘤,多见于15岁以下的儿童。根据肿瘤的组织学和遗传学特点,可将横纹肌肉瘤分为3种类型：胚胎性横纹肌肉瘤（包括梭形细胞横纹肌肉瘤、葡萄状横纹肌肉瘤和间变性横纹肌肉瘤）、腺泡状横纹肌肉瘤（包括实性型横纹肌肉瘤和间变性横纹肌肉瘤）和多形性横纹肌肉瘤。横纹肌肉瘤组织基本上重演了横纹肌发育过程中各个阶段的细胞,[第一段]     

横纹肌肉瘤的病理分型与临床分期的关系

1 病理分类:1994年WHO肿瘤国际组织学新分类 1.1 胚胎型横纹肌肉瘤 1.2 葡萄簇型横纹肌肉瘤     

儿童横纹肌肉瘤的临床病理研究

目的 探讨横纹肌肉瘤的临床病理、免疫组织化学、电镜特点。方法 对145例患儿(男97例,女48例,年龄4个月～13岁,平均4．2岁),用HE、免疫组织化学(LSAB法)和电镜技术进行观察。所用抗体有：波形蛋白、结蛋白、平滑肌肌动蛋白(SMA)、肌红蛋白、神经元特异性烯醇化酶(NSE)、CD99(12E7)、白细胞共同抗原(LCA)。结果 145例患儿中,100例随访1～20年。组织学分为胚胎性、葡萄状、梭形细胞型、腺泡状和实性型。5年存活率：葡萄状85％、梭形细胞型横纹肌肉瘤85％,胚胎性60％,腺泡状40％、实性型横纹肌肉瘤25％,预后最好的是梭形细胞型和葡萄状横纹肌肉瘤,预后次之的是胚胎性横纹肌肉瘤,预后差的是腺泡状和实性型横纹肌肉瘤;预后好的部位是膀胱和头颈部,预后差的部位是躯干四肢、腹膜后和盆腔;免疫组织化学：107例均表达波形蛋白,除NSE、CD99和LCA均阴性外,结蛋白、SMA和肌红蛋白阳性率分别为78％、75%和37％。15例肿瘤经电镜观察,其中10例发现有肌丝和肌节结构。结论 免疫组织化学和电镜检查有利于儿童横纹肌肉瘤的病理诊断和组织分型。     

免疫组化和电镜在横纹肌肉瘤研究中的应用

横纹肌肉瘤(Rhabdomyosarcoma)是由不同成熟程度的横纹肌细胞组成的恶性肿瘤、居软组织肉瘤的第三位,传统上将其分为多形性横纹肌肉瘤、腺泡状横纹肌肉瘤和胚胎性横纹肌肉瘤(包括葡萄状肉瘤)三类。在临床病理工作中虽然依靠找那些胞浆红染丰富的圆形、梭形、带状、球拍状、蜘蛛样     

横纹肌肉瘤染色体病理学研究

横纹肌肉瘤(Rhabdomyosarcoma,RMS)是一种严重危害儿童及成人生命的软组织恶性肿瘤。其病理组织学分型可分为胚胎型、腺泡型和多形型。各型RMS在临床表现、病理改变以及预后上均有不同。主要表现在(1)发     

横纹肌肉瘤分子遗传学研究进展

横纹肌肉瘤(rhabdomyosarcoma，RMS)是儿童软组织肿瘤中常见的一种恶性肿瘤，约占儿童软组织肿瘤的50％以上，占15岁以下儿童恶性肿瘤的4％～8％。依据其组织学特点可分为胚胎型(embryonal)，腺泡型(alveolar)和多形型(pleomorphic)。在被诊断为RMS的病例中约60％为胚胎型，20％为腺泡型，其余为多形型、未分化型和误诊的病例。     

横纹肌肉瘤比较基因组杂交研究现状

横纹肌肉瘤(rhabdomyosarcoma, RMS)是儿童软组织肿瘤中常见的一种恶性肿瘤,可能是骨骼肌形成过程中异常增殖和分化的结果.根据组织学和遗传学特征RMS可分为3种亚型;较常见的胚胎性横纹肌肉瘤(embryonal rhabdomyosarcoma,ERMS)、更具侵袭性的腺泡状横纹肌肉瘤(alveolar rhabdomyosarcoma,ARMS)和罕见的成人多形性横纹肌肉瘤(pleomorphic rhabdomyosarcoma,PRMS)[1-2].     

儿童梭形细胞横纹肌肉瘤10例临床病理分析

目的探讨儿童梭形细胞横纹肌肉瘤的临床病理特征、诊断及鉴别诊断。方法回顾性分析10例儿童梭形细胞横纹肌肉瘤的临床病理学特征并复习相关文献。结果镜下主要表现为长梭形的肿瘤细胞,部分区域可见典型的胚胎性横纹肌肉瘤区或分化较好的横纹肌母细胞区,肿瘤细胞表达肌源性标记desmin、Myogenin和MyoD1,Ki-67核增殖指数为15%~60%。结论儿童梭形细胞横纹肌肉瘤少见,易漏诊或误诊,需与儿童常见的其他梭形细胞肿瘤相鉴别。     

骨髓转移性横纹肌肉瘤4例临床病理特征

目的观察骨髓转移性横纹肌肉瘤(rhabdmyosarcoma, RMS)的临床病理特征。方法回顾性分析2013年3月～2020年12月福建医科大学附属协和医院诊治的4例骨髓转移性RMS的临床资料、病理学形态及免疫表型,并复习相关文献。结果 4例中男女各2例,年龄6～49岁;1例发生于鼻根部RMS综合治疗后4年,其余3例骨髓转移为同时发现,其中2例因骨髓病变就诊;4例临床均表现出不同程度的贫血,2例伴多发淋巴结肿大。4例中3例组织学类型为腺泡状RMS,骨髓活检标本镜下见弥漫浸润的中等大异型细胞,胞质量少,核不规则,染色质细颗粒状,未见明显核仁,正常造血明显受抑,1例为胚胎性RMS,骨髓活检标本镜下可见灶状分布的梭形、不规则细胞,胞质嗜酸性,部分梭形细胞可见横纹。免疫表型:4例均不同程度表达desmin、MyoD1、Myogenin等横纹肌分化相关抗原,1例ALK胞质颗粒状阳性。FISH检测到1例FKHR(FOXO1)基因断裂分离。1例儿童化疗17个月后依然生存,2例成人在诊断3个月内死亡,1例失访。结论骨髓转移性RMS临床表现易与血液系统疾病混淆,疾病进展迅速,预后差;仅有骨髓活检组织而无病史时,常诊断困难,易误诊。     

恶性蝾螈瘤1例报道及临床病理与PET/CT影像分析

目的:探讨恶性蝾螈瘤(malignanttritontumor,MTT)的临床病理特征及PET/CT影像特点.方法:回顾性分析1例右咽旁MTT的临床表现、PET/CT影像学表现、病理组织学特征及免疫组化结果,并结合文献分析讨论.结果:女性,51岁,右侧颌面部胀痛麻木,且进行性加重.PET/CT检查:右侧咽旁间隙显示软组织肿块并FDG明显异常高摄取,SUVave为16.9.病理组织学检查:瘤细胞多为梭形,小圆形细胞,其间还可见似横纹肌特征的细胞,肿瘤细胞中等大,圆形或卵圆形,具有丰富的嗜酸性细胞质,核偏位.免疫组化:神经鞘膜细胞标记S-100阳性,其内分化横纹肌细胞标记desmin及vimentin阳性.结论:MTT是伴有横纹肌肉瘤(rhabdomyosarcoma,RMS)分化的恶性外周神经肿瘤,是一种非常罕见的恶性肿瘤.临床表现无明显特异性,PET/CT可提供一定诊断价值的信息,病理组织学及免疫组化具有特征性表现.MTT主需与尤文氏肉瘤(Ewing'sscarcoma,ES)/原始神经外胚层肿瘤(primitiveneuroectodermaltumour,PNET)、淋巴母细胞性淋巴瘤(lymphoblasticlymphoma,LBL)、RMS及恶性纤维组织细胞瘤(malignantfibroushistocytoma,MFH)相鉴别.根据PET/CT影像学特征,结合病理组织学及免疫组织学特点,可对该疾病明确诊断.     

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.