儿童肾横纹肌样瘤临床病理分析

肾横纹肌样瘤(RTK)是一种好发于婴幼儿的高度恶性肿瘤,该肿瘤在临床上极少见且易误诊,现将我院遇见的4例综合临床资料、病理形态、免疫组织化学、超微结构,就其诊断及鉴别诊断进行讨论.     

肾外恶性横纹肌样瘤临床病理分析

目的：探讨恶性横纹肌样瘤的临床病理表现。方法：用光镜、免疫组化及特染等方法观察其病理组织学特点。结果：该例具有典型巢团状浸润生长的多边形横纹肌样瘤细胞,胞浆丰富嗜酸性,胞浆内可见或多或少胞浆空泡及包涵体,泡状核、核仁明显。瘤细胞排列有假腺泡状,放射状,副节瘤样及淋巴瘤样等多形性改变。结论：该肿瘤瘤细胞呈免疫多表型,其神经性、上皮性、肌性混合多项阳性。     

儿童恶性横纹肌样瘤9例临床病理分析

目的探讨儿童恶性横纹肌样瘤(malignant rhabdoid tumor, MRT)的临床病理学特征。方法回顾性分析9例儿童MRT的临床病理学特征、免疫表型、诊断及鉴别诊断、治疗及预后,并复习相关文献。结果 9例MRT中男性7例,女性2例,患儿年龄1个月～9岁。镜检:肿瘤细胞排列成不相黏附的巢状或实性片状。瘤细胞体积大,呈圆形或卵圆形,胞质丰富,嗜伊红色,内含PAS阳性的球形毛玻璃样包涵体,类似横纹肌细胞。核偏位,染色质呈空泡状,可见明显核仁,核分裂象常见。免疫表型:瘤细胞CK(AE1/AE3)、EMA、vimentin和Syn均阳性,MyoD1、desmin和INI-1均阴性。Ki-67增殖指数30%～70%,平均56.3%。结论 MRT是一种罕见的好发于婴幼儿的高度恶性肉瘤,具有相对独特的病理学形态特点,并伴有INI-1基因表达缺失。病理诊断需与近端型上皮样肉瘤、滑膜肉瘤、肾髓质癌等相鉴别。MRT对放、化疗反应不敏感,尤其是发生于肾内者,预后极差,病死率高。     

肾恶性横纹肌样瘤15例临床病理及免疫组织化学分析

报道１５例肾恶性横纹肌样瘤（ＭＲＴＫ）的临床病理及免疫组化特点。男女之比为２．８：１。年龄４个月至４岁７个月，平均１岁零６个月。随访１０例，８例均于术后半年内死１０亡，２例健在。典型组织学改变为细胞弥漫排列，多边形，胞浆丰富嗜酸性，核仁突出。部分细胞胞浆内有嗜酸性包涵体，部分病例可见上皮样排列，间质硬化及梭形细胞成分。免疫组化显示１５例Ｖｉｍｅｎｔｉｎ（＋），１２例ＥＭＡ（＋），８例Ｃｙｔｏｋｅｒａｔｉｎ（＋）。结果提示，本瘤是一种好发于婴幼儿、预后差、多表现型的恶性肾肿瘤。可能来源于某种具有双向分化能力的多潜能细胞。     

中枢神经系统非典型畸胎瘤样/横纹肌样瘤临床病理特点

目的探讨中枢神经系统非典型畸胎瘤样／横纹肌样瘤(atypical teratoid／rhabdoid tumor，AT／RT)的临床病理特征、组织发生及预后。方法应用光镜、特殊染色及免疫组化染色观察1例2岁儿童大脑AT／RT的病理组织学特点，结合国内外文献进行讨论。结果肿瘤含有横纹肌样细胞、原始神经外胚层、上皮及间叶多向分化成分。肿瘤中网状纤维丰．富。免疫组化染色Vim、EMA、CKpan、GFAP、Syn及CgA均呈阳性表达，PLAP、CD117、SMA及：NF?呈阴性反应。结论AT／RT为发生在儿童中枢神经系统罕见的高度恶性肿瘤，多数患者1年内死亡。肿瘤极易误诊为髓母细胞瘤、原始神经外胚叶肿瘤(PNET)、脉络丛乳头状癌及生殖细胞肿瘤。免疫组化染色对确诊AT／RT十分重要。本瘤的组织发生仍不清楚。     

中枢神经系统非典型畸胎瘤样/横纹肌样瘤10例临床病理分析

目的 探讨中枢神经系统非典型畸胎瘤样/横纹肌样瘤(atypical teratoid/rhabdoid tumor,AT/RT)的临床病理学特征、诊断、鉴别诊断及预后.方法 回顾性分析2016年～2019年中南大学湘雅医院诊治的10例AT/RT的临床、影像学及病理学特征,并对其进行随访及相关文献复习.结果 10例患者发...     

中枢神经系统非典型畸胎瘤样/横纹肌样瘤1例临床病理分析

目的 探讨中枢神经系统非典型畸胎瘤样/横纹肌样瘤的临床病理特征、鉴别诊断.方法 对1例非典型畸胎瘤样/横纹肌样瘤应用HE染色、电子显微镜、免疫组织化学染色观察,并结合文献复习.结果 非典型畸胎瘤样/横纹肌样瘤具有特征性的横纹肌样细胞,伴有不同程度的原始神经外胚叶、上皮和间质分化.超微结构见瘤细胞内呈卷发丝样微丝小体,中间可见线粒体.免疫组织化学标记示:EMA、vimentin、CD99、NF和NSE(+),SMA、GFAP、CD117和PLAP(-).结论 非典型畸胎瘤样/横纹肌样瘤是中枢神经系统一种罕见的高度恶性肿瘤,好发于儿童,其诊断需与脑内其他多形性肿瘤鉴别.     

肾外恶性横纹肌样瘤1例

患者女性 ,18岁。因右上腹及右腰部胀痛月余入院。检查 :血压 17/ 10ｋＰａ ,血生化正常 ;查体腹部平坦 ,右上腹有轻压痛 ,无反跳痛 ,余未见异常。Ｂ超检查腹膜后右肾上方、肝脏下方见 7 2ｃｍ× 6 1ｃｍ实性光团回声 ,边界清 ,有包膜 ,内回声不均匀 ,彩超血流内部未显示 ,考虑为腹膜后实性占位性病变。ＣＴ平描示 ,右肾上方 4 5ｃｍ× 5 5ｃｍ椭圆形软组织肿块 ,密度均匀 ,边界较清楚 ,右肾上腺欠显影 ,肝门及肝右叶受压 ;增强示 ,动脉期肿块轻度强化 ,内有紊乱血管影 ,动脉期肿块影强化相对降低 ,密度欠均匀。提示腹膜后右肾上腺区肿瘤…     

中枢神经系统非典型畸胎样/横纹肌样瘤临床病理及免疫表型特征

目的 探讨中枢神经系统非典型畸胎样／横纹肌样瘤的临床病理特征、诊断及鉴别诊断。方法 对2例非典型畸胎样／横纹肌样瘤应用光镜行HE、网状纤维染色及免疫组织化学染色观察,并结合文献复习。结果 非典型畸胎样／横纹肌样瘤具有特征性的横纹肌样细胞,伴有不同程度的原始神经外胚叶、上皮和间质分化。肿瘤组织富于网状纤维,免疫组织化学标记示波形蛋白、CD99、上皮细胞膜抗原、细胞角蛋白、胶质纤维酸性蛋白、S-100蛋白、神经微丝蛋白、结蛋白、平滑肌肌动蛋白阳性,突触素、肌调节蛋白、胎盘碱性磷酸酶和HMB45阴性。结论 非典型畸胎样／横纹肌样瘤是中枢神经系统一种罕见的高度恶性肿瘤,好发于儿童,偶见于成人,呈异源性组织学和免疫组织化学表型。其诊断需与脑内其他多形性肿瘤鉴别。     

伴横纹肌样特征的肾细胞癌的临床病理特征

目的探讨伴横纹肌样特征的肾细胞癌（RCC）的临床病理特征。方法对1995—2005年南京军区南京总医院常规外检档案352例RCC中的10例伴横纹肌样特征的RCC进行了光镜、免疫表型检测和超微结构观察,并结合临床病理特征进行分析。结果10例伴横纹肌样特征的RCC患者年龄33．69岁（平均年龄52岁）,男9例,女1例。5例肿瘤侵犯肾包膜,2例伴淋巴结转移,1例伴肺转移。组织学观察,10例伴横纹肌样特征的RCC中透明细胞型9例,乳头型1例,均可见不同程度的具横纹肌样特征的瘤细胞区域。横纹肌样特征的瘤细胞排列成梁索状、腺泡样、器官样或团片状,瘤细胞散在分布,细胞间无黏附或黏附性差,呈类圆形或多角形,核泡状、偏位,核仁突出,胞质内见红染均质包涵体样物,瘤组织常伴明显坏死。免疫组织化学观察,具横纹肌样特征的瘤细胞CD10、CK（AE1／AE3）、上皮细胞膜抗原（EMA）、波形蛋白均阳性表达,CK7、CK20、结蛋白、肌细胞生成素、α-平滑肌肌动蛋白（α-SMA）、肌肉特异性肌动蛋白（MSA）均阴性表达,神经元特异性烯醇化酶（NSE）、S-100蛋白灶性阳性表达。横纹肌样瘤细胞区Ki-67阳性表达较周围经典型瘤细胞区增高,两者比较差异有统计学意义（P〈0．05）。随访8例,2例于术后6个月及29个月死亡,6例存活。结论伴横纹肌样特征的RCC主要见于透明细胞型,应与胞质嗜酸的肾细胞肿瘤和肾恶性横纹肌样瘤等相鉴别。RCC中伴横纹肌样特征的瘤细胞较周围经典型瘤细胞Ki-67表达明显增高,可能与此类肿瘤临床生物学行为更具侵袭性有关。     

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor

The SMARCB1 gene status in 50 patients with atypical teratoid rhabdoid tumor and/or malignant rhabdoid tumor recruited to a German registry was prospectively analyzed with FISH and PCR. Altogether we found 40 SMARCB1 mutations in 28 patients. Two patients were positive for SMARCB1 staining at immunochemistry. Germline mutations were identified in 10 of 41 patients with CNS disease, including three large heterozygous deletions, six truncating mutations and one donor splice site mutation. No missense mutation was identified. Analysis of first degree relatives did not detect any carriers. Mutations were distributed over the SMARCB1‐gene without particular clustering. No germline mutation was found in nine patients without CNS disease. Patients with germline mutation had a lower median age at diagnosis in comparison to those without detectable germline mutation (5.5 vs. 13 months, P = 0.001), a higher rate of primary multicentric CNS disease (5/10 vs. 5/36) and synchronous or metachronous mixed CNS and extracranial disease (4/10 vs. 1/36). Two year overall survival was 0% in patients with germline mutation and 48% in those without detectable germline mutation (P < 0.001). Patients with germline mutation of SMARCB1 manifest at an early age and have a very high risk for progression which has to be considered with respect to the outcome of further treatment studies. © 2009 Wiley‐Liss, Inc.     

Fine-needle aspiration biopsy diagnosis of malignant rhabdoid tumor of the kidney

A series of six fine-needle aspiration biopsies from three patients with malignant rhabdoid tumor of the kidney is reviewed. The smears revealed round, polygonal, and irregularly shaped cells with large nuclei and prominent nucleoli. Some of the tumor cells contained light pink to purple cytoplasmic inclusions that correlated with the eosinophilic inclusions seen in histopathologic sections and filamentous cytoplasmic aggregates noted on ultrastructural examination. Diagnosis of malignant rhabdoid tumor of the kidney may be suggested from aspiration biopsy smears; however, further confirmation of the diagnosis by histologic or ultrastructural examination is desirable.     

Characterization of a cell line derived from rhabdoid tumor of kidney.

Rhabdoid tumor of kidney (RTK) is a rare, highly malignant childhood neoplasm of uncertain histogenesis. Several recent studies have described considerable histochemical heterogeneity among cases of RTK, with confusing combinations of epithelial, mesenchymal, myogenous, and neuroepithelial markers in some tumors. The present study characterizes the histology, ultrastructure, histochemistry, cytogenetics, and oncogene expression in a cell line derived from RTK. The surgical specimen, nude mouse xenograft, and cell cultures demonstrated characteristic intermediate filament whorls by electron microscopy and expressed vimentin (diffusely) and cytokeratin (focally, in hyaline cytoplasmic inclusions) without detectable desmin, Thy-1, or epithelial membrane antigen. S-100 protein was absent in the surgical specimen and heterotransplant, and was seen very weakly and focally in the cell cultures. Light microscopic features of cultures were unchanged by several compounds (tissue plasminogen activator, nerve growth factor, cyclic adenosine monophosphate) which induce differentiation of some other pediatric neoplasms. The growth factor requirements of RTK cultures indicate a cell with mesenchymal features. Insulin-like growth factor-2 mRNA was detected in the RTK and in three Wilms' tumors also studied. Unlike most Wilms' tumors, RTK expresses the c-myc rather than the N-myc oncogene.     

Ultrastructure of malignant rhabdoid tumor of the kidney: A distinctive renal tumor of children

An unusual and highly malignant childhood renal tumor has been noted among the specimens of the National Wilms' Tumor Study. Prominent nucleoli, PAS positive cytoplasmic inclusions, and light microscopic features suggestive of rhabdomyoblastic differentiation are hallmarks of this tumor. Ultrastructural examination of 11 specimens revealed the filamentous nature of the cytoplasmic inclusions, some features of epithelial cells, but no diagnostic rhabdomyoblastic elements. The similarity of the filamentous cytoplasmic inclusions to those of some APUD tumors may suggest a neural crest origin of the renal tumor. Alternatively the filamentous masses may have no histogenetic significance but may serve as a useful marker for this prognostically unfavorable tumor. Because of its striking light microscopic resemblance to rhabdomyosarcoma but lack of acceptable rhabdomyoblastic ultrastructural features, we refer to this tumor as malignant rhabdoid tumor of the kidney.     

Molecular genetic alterations and gene expression profile of a malignant rhabdoid tumor of the kidney

Malignant rhabdoid tumor of the kidney (MRTK) is a rare but highly aggressive tumor in children, and knowledge about the molecular signature of this tumor is limited. We report the molecular genetic alterations and gene expression profile of an MRTK tumor that arose in a 4-month-old Japanese girl. Fluorescence in situ hybridization and Southern blot analyses revealed a homozygous deletion of an approximately 0.29-Mb genomic region bordered by the Rgr and DDT genes in these tumor cells. This deleted region encodes SMARCB1, a candidate tumor suppressor gene for MRTK. Using a high-density oligonucleotide DNA array, we found increased expression of 25 genes, including genes involved in the cell cycle (10 genes), DNA replication (3 genes), cell growth (5 genes), and cell proliferation (5 genes), in this MRTK tumor sample, compared with a noncancerous kidney (NK) sample. On the other hand, 64 genes, including 4 genes regulating apoptosis, were found to show decreased expression in this MRTK tumor sample, compared with the NK sample. Among these alterations, we found alterations of expression of some genes, such as IGF2, MDK, TP53, and TNFSF10, in this MRTK tumor, as described previously. The molecular genetic alterations and altered pattern of gene expression found in this case may have contributed to the biological characteristics of the MRTK tumor that arose in our patient.     

胰腺囊性-实性肿瘤的临床病理诊断

目的：探讨胰腺囊性－ 实性肿瘤临床病理、免疫组化特点、组织发生及生物学行为。方法：对２ 例胰腺囊性－ 实性肿瘤进行光镜观察及免疫组化染色。结果：２ 例均为年轻女性（２１ 岁和３５ 岁）。肿物为半囊半实性。ＨＥ染色片中瘤细胞大小形态较一致,核圆形或卵圆形,核异型性不明显,核分裂象罕见。肿瘤细胞围绕纤维血管复层排列形成假乳头突起为其特征。免疫组化染色显示α１ＡＴ、ＥＲ和ＰＲ均阳性,ＣＥＡ、Ｓ１００ 、ＮＳＥ均阴性。随访：１ 例带瘤生存２ 年后死亡,１ 例术后９ 个月健在。结论：胰腺囊性实性肿瘤可能来源于腺泡细胞,为性激素依赖性肿瘤,具有侵袭性行为,是一种低度恶性肿瘤。     

乳腺原发性血管肉瘤的临床及病理学特征

目的探讨乳腺原发性血管肉瘤的临床及病理特点。方法复习5例乳腺原发性血管肉瘤切片,依据2003年WHO乳腺肿瘤组织学分类标准诊断和分级。采用第Ⅷ因子相关抗原、CD31、CD34、雌激素受体（ER）、孕激素受体（PR）、细胞角蛋白（cK）及c-erbB-2等抗体进行免疫组织化学SP法染色观察。结果5例患者均以乳腺无痛性肿块为首发症状,术前B超、钼靶检查缺乏特异性诊断。组织学呈多样性表现是乳腺血管肉瘤组织学形态特点。免疫组织化学染色显示,5例血管内皮相关抗原均呈阳性表达,ER、PR、CK及c—erbB-2均阴性。结论乳腺原发性血管肉瘤非常罕见,临床表现缺乏特异性,病理形态多样,诊断困难,血管内皮相关抗原均呈阳性表达对确诊有帮助。