软组织肿瘤的病理学进展——新型软组织肿瘤的介绍

软组织肿瘤涉及的范围广 ,类别多 ,形态变异也较大 ,常常给病理诊断带来不少困难。近年来 ,随着分子生物学、遗传学技术的应用 ,不但提高了软组织肿瘤的诊断 ,也对原来一些类似的病变进行重新认识 ,区分出一些“新病种”。本文复习近年文献 ,将几种目前新命名的软组织肿瘤介绍如下。1　软骨样脂肪瘤 ( chondroid lipoma)软骨样脂肪瘤是 1 993年 Meis和 Enzinger首先报道的一种新的软组织肿瘤 [1]。它是一少见的良性脂肪源性肿瘤 ,但容易误诊为黏液样脂肪肉瘤及骨外黏液样软骨肉瘤。典型的软骨样脂肪瘤生长缓慢 ,好发于四肢近侧端或肩胛部 ,…     

骨外黏液样软骨肉瘤一例并文献复习

骨外黏液样软骨肉瘤（extraskeletal myxoid chondrasarcoma,EMC）是一类罕见的恶性软组织肿瘤,相对于那些的临床病理及分子生物学特征已经明确定义的肿瘤,骨外黏液样软骨肉瘤的细胞分化类型还不完全清楚.最新的WHO骨与软组织肿瘤分类体系修订版中,EMC被归类于分化类型不明确的肿瘤.我院最近收治１例典型的足部骨外黏液软骨肉瘤,现报告如下.     

骨外黏液样软骨肉瘤的临床病理分析

背景与目的：骨外黏液样软骨肉瘤(extraskeletal myxoid chondrosarcoma,EMC)是一种好发于四肢深部软组织分化不定的恶性肿瘤,以形成多结节样结构、富含黏液为特点。本研究旨在探讨EMC的临床病理特征、诊断及鉴别诊断。方法：对7例EMC进行病理形态学及免疫组化观察,并复习相关文献。结果：7例EMC患者病理巨检显示,灰白色多结节状半透明肿物,边界清楚。镜下卵圆形或短梭形细胞排列成条索,由纤细的纤维组织分隔,呈分叶状,富含黏液样基质但血管稀少。免疫组化肿瘤细胞表达vimentin,部分患者表达S-100及EMA,但不表达CK。结论：EMC是一种罕见的具有独特病理特点的软组织肿瘤,应与脊索瘤、软骨肉瘤等富含黏液样基质或软骨样分化的肿瘤相鉴别。     

低度恶性纤维黏液性肉瘤一例并文献复习

目的：分析低度恶性纤维黏液样肉瘤的临床病理特征及鉴别诊断。方法：对一例低度恶性纤维黏液样肉瘤进行大体、光镜及免疫组化观察并结合文献复习。结果：瘤细胞排列呈漩涡状,散布在富于血管的纤维黏液样间质中,黏液区与纤维区明显过渡。免疫组化肿瘤细胞SMA（-）、EMA（-）、S-100（-）、CD99（-）、CD68（-）。结论：低度恶性纤维黏液样肉瘤是g 种非常少见的软组织肿瘤,常被误诊为良性肿瘤,需与黏液样纤维肉瘤I级、黏液样神经纤维瘤、恶性纤维组织细胞瘤等鉴别诊断。     

骨外黏液样软骨肉瘤1例报道

骨外黏液样软骨肉瘤(extraskeletal myxoid chondrosarcoma,EMC),也称软骨样肉瘤,是一种罕见的恶性软组织肿瘤,不到软组织肉瘤的3%。EMC具有多向分化潜能,最新的WHO软组织肿瘤分类将其归为分化不确定的软组织肿瘤[1]。本文报道1例EMC,结合文献复习,探讨其临床特点、病理学特征、鉴别诊断、治疗及预后。1临床资料1.1一般资料患者女性,41岁,于半年前无意中发现左大腿肿块,约蚕豆大小,无疼痛,无皮肤破溃,无行走障碍,半年来肿块逐渐增     

软组织骨化性纤维黏液样瘤临床病理观察

目的:探讨软组织骨化性纤维黏液样瘤（ossifying fibromyxoid tumor,OFMT）临床病理学特征、诊断及鉴别诊断。方法:结合文献对2例骨化性纤维黏液样瘤患者的临床表现、组织形态学特点、免疫组化、组织来源和预后进行探讨。结果:骨化性纤维黏液样瘤有纤维性包膜及不连续的骨壳,肿瘤实质呈大小不一的小叶状结构,细胞密度不均,瘤细胞间为多少不等的纤维黏液样基质。免疫组化肿瘤细胞表达Vim、GFAP、CD99、NSE。结论:软组织骨化性纤维黏液样瘤少见,易误诊,主要依据其典型的镜下形态并结合免疫组化做出诊断。免疫组化结果支持OFMT雪旺细胞起源。     

MRI在长骨高低级别软骨肉瘤诊断中的临床价值

目的探讨高低级别软骨肉瘤影像特征,提高长骨中心型软骨肉瘤术前分级诊断的准确率。方法分析病理证实的52例长骨中心型软骨肉瘤,低级别组30例,高级别组22例。对肿瘤的发生部位、肿瘤的最长径、骨质膨胀性改变、骨皮质中断、骨皮质增厚、骨膜反应、深扇贝样压迹、骨髓水肿、软组织水肿、软组织肿块、软骨陷落征、病灶中央脂肪裹入、病灶内部是否出现钙化、花环状强化特征等进行统计学分析,找出具有鉴别诊断价值的征象和最佳诊断模式。结果 52例中,长骨中心型软骨肉瘤多发生于股骨,共36例,约占63.7%。肿瘤最长径8.25 cm时,诊断高级别软骨肉瘤的敏感性达82%,特异性达80%。骨质膨胀性改变、骨皮质中断、骨膜反应、深扇贝样压迹、骨髓水肿、软组织水肿、软组织肿块、软骨陷落征、病灶中央脂肪裹入、花环状强化等影像征象在低级别组与高级别组之间的差异均有统计学意义。骨膜反应、软组织水肿、软骨陷落联合预测诊断高级别软骨肉瘤的总体精度可达89.4%。结论长骨原发性中心型软骨肉瘤同时出现骨膜反应和软组织水肿,并没有发现软骨陷落征时,其诊断高级别软骨肉瘤的价值最大。     

右踝骨外黏液样软骨肉瘤1 例报告

 0 　引言 骨外黏液样软骨肉瘤( ext raskeletal myxoidchondrosarcoma , EMC) 是一种 较为罕见的恶性软组织肿瘤,作者报道 1 例发生在右踝内侧的EMC ,探讨其临 床病理学特征和鉴别诊断要点。     

手足部内生软骨瘤及原发性软骨肉瘤的临床病理分析

目的 探讨手足短管状骨内生软骨瘤及原发性软骨肉瘤的影像学及临床病理学特征,为二者的诊断及鉴别诊断提供依据.方法 回顾性研究手足短管状骨的内生软骨瘤204例,年龄6～72岁（平均34岁）,高峰年龄20～40岁,女∶男约为2∶1.其中指骨166例,掌骨34例,足趾骨4例.原发性软骨肉瘤2例,均发生于指骨,年龄分别为52岁、76岁,男女各1例.对上述病例的临床影像学资料进行分析,病理学特征通过石蜡切片HE染色进行观察.结果 手足短管状骨的内生软骨瘤临床多无症状,影像学呈现膨胀性的骨破坏,组织学表现为分化较好的软骨组织伴不同程度黏液变、钙化及细胞轻度非典型性,未见浸润骨及软组织.软骨肉瘤临床多伴有疼痛,影像学可见皮质破坏、软组织包块形成.2例病理组织学分级均为II级,其肿瘤细胞较内生软骨瘤更为丰富,非典型性及黏液变显著,可见肿瘤性软骨浸润宿主骨、侵破皮质进入软组织.结论手足短管状骨以内生软骨瘤多见,尽管组织学具有非典型特征,但其呈现＂软骨岛＂结构及为宿主骨小梁包绕的生长方式与软骨肉瘤的浸润性生长不同,手足短管状骨软骨肉瘤罕见,其组织学显示显著的恶性特征,二者诊断时应结合临床、影像学特征及病理学特点进行综合分析.     

罕见的伴EWSR1易位的6例肺原发性黏液样肉瘤的临床病理分析

背景与目的:肺原发性黏液样肉瘤是一种非常罕见的软组织肿瘤.最近有学者发现该肿瘤具有特异性的EWSR1基因易位.该研究旨在探讨伴EWSR1基因易位的肺原发性黏液样肉瘤的临床病理学特征及其鉴别诊断.方法:回顾性分析复旦大学附属肿瘤医院病理科诊断的6例伴EWSR1基因易位的肺原发性黏液样肉瘤,收集临床及影像学资料及组织病理学形态,采用免疫组织化学法分析免疫学表型,采用荧光原位杂交(fluorescence in situ hybridization,FISH)检测EWSR1基因融合状态,并复习相关文献.结果:患者均为成年人,其中男性4例,女性2例,发病年龄23~64岁,中位年龄44岁.大体上,肿瘤大小2.0~5.5 cm,肿瘤境界较清楚,切面质韧,灰白灰黄色,胶冻样.镜下观察,所有病例均与支气管关系紧密,肿瘤细胞主要由梭形细胞或多边形细胞组成,排列呈条索状、梁状或网状结构,背景为多少不等的黏液样基质.该肿瘤缺乏特异性标志物,但肿瘤细胞可不同程度表达上皮膜抗原(epithelial membrane antigen,EMA).FISH检测结果显示EWSR1基因重排阳性.随访4~29个月,其中5例无瘤生存,1例出现胸膜及骨转移.结论:伴有EWSR1基因重排的肺原发性黏液样肉瘤是一种极为罕见的低度恶性的肉瘤.组织学上有一定的特征性改变,熟悉其瘤谱及基因学特征有助于诊断和鉴别诊断.     

Clinicopathological Features of Extraskeletal Myxoid Chondrosarcoma:An Analysis of 9 Cases

Objective:To investigate the Clinicopathological characteristics of extraskeletal myxoid chondrosarcoma(EMC).Methods:Nine cases of extraskeletal myxoid chondrosarcoma were studied.Extensive immunohistochemical analysis was performed in all the cases and ultrastructural studies were done in 2 extraskeletal myxoid chondrosarcomas.Follow-up information was available for seven patients.Results:There were 7 males and 2 females whose ages ranged from 31 to 69 years(median 52.78 years).Local pain or tenderness and the presence of a palpable mass were the main complaints of the patients.The tumors were located mainly in the lower extremities(66.7%).Most tumors were deep-seated.They usually had a distinct multinodular configuration delineated by fibrous connective tissue.The tumor cells were arranged in delicate intersecting strands,rings,and garlands for the most part.The myxoid matrix was abundant in most cases.Immunohistochemical analysis was performed in all the cases and ultrastructural studies were done in 2 extraskeletal myxoid chondrosarcomas.EMC expressed vimentin(100%,9/9),neuron-specific enolase(77.8%,7/9),S-100 protein(66.7%,6/9),synaptophysin and chromogranin A(22.2%,2/9).None of the tumors expressed EMA and desmin.Ultrastructurally:EMC was characterized by distinct cords of cells immersed in a glycosaminoglycan rich matrix.The cells were rich in mitochondria,had well-developed Golgi apparatus and there were numerous smooth vesicles.In many cells,there were also prominent glycogen deposits and lipid droplets.Some tumor cells had intracisternal microtubules.In one of the 2 extraskeletal myxoid chondrosarcomas there were 140-180 nm diameter membrane-bound dense-core secretory granules in cell bodies.Conclusion:Extraskeletal myxoid chondrosarcoma(EMC)is a rare soft tissue sarcoma characterized by distinctive morphological and cytogenetical features.However,the chondroid nature has been a subject of controversy,and its line of differentiation remains to be determined.A substantial proportion of EMC shows immunophenotypic and/or ultrastructural evidence of neuroendocrine differentiation.EMC has high potential of local recurrence and metastasis,and a high disease-associated death rate.     

Clinicopathological Features of Extraskeletal Myxoid Chondrosarcoma： An Analysis of 9 Cases

Objective： To investigate the Clinicopathological （EMC）. Methods： Nine cases of extraskeletal characteristics of extraskeletal myxoid chondrosarcoma myxoid chondrosarcoma were studied. Extensive immunohistochemical analysis was performed in all the cases and ultrastructural studies were done in 2 extraskeletal myxoid chondrosarcomas. Follow-up information was available for seven patients. Results： There were 7 males and 2 females whose ages ranged from 31 to 69 years （median 52.78 years）. Local pain or tenderness and the presence of a palpable mass were the main complaints of the patients. The tumors were located mainly in the lower extremities （66.7%）. Most tumors were deep-seated. They usually had a distinct multinodular configuration delineated by fibrous connective tissue. The tumor cells were arranged in delicate intersecting strands, rings, and garlands for the most part. The myxoid matrix was abundant in most cases. Immunohistochemical analysis was performed in all the cases and ultrastructural studies were done in 2 extraskeletal myxoid chondrosarcomas. EMC expressed vimentin （100%, 9/9）, neuron-specific enolase （77.8%, 7/9）, S-100 protein （66.7%, 6/9）, synaptophysin and chromogranin A （22.2%, 2/9）. None of the tumors expressed EMA and desmin. Ultrastructurally： EMC was characterized by distinct cords of cells immersed in a glycosaminoglycan rich matrix. The cells were rich in mitochondria, had well-developed Golgi apparatus and there were numerous smooth vesicles. In many cells, there were also prominent glycogen deposits and lipid droplets. Some tumor cells had intracisternal microtubules. In one of the 2 extraskeletal myxoid chondrosarcomas there were 140-180 nm diameter membrane-bound dense-core secretory granules in cell bodies. Conclusion： Extraskeletal myxoid chondrosarcoma （EMC） is a rare soft tissue sarcoma characterized by distinctive morphological and cytogenetical features. However, the chondroid nature has been a subject of controversy, and its line     

Extraskeletal myxoid chondrosarcoma in young children

Two extraskeletal myxoid chondrosarcomas with a solid soft tissue mass occurred on the right upper arm of a 4-year-old boy and on the chest wall of a 1-year-old boy. Microscopically, both tumors were characterized by lobular configuration and were sparsely cellular with a background of myxoid matrix. The cells were small and round, and appeared undifferentiated, sometimes with a narrow eosinophilic cytoplasm. They grew in nests or strands and sometimes in a single file. They were strongly positive for S-100 protein and vimentin. Ultrastructural features suggested that the cells had a poorly differentiated mesenchymal nature with chondrocytic differentiation. These are the sixth and seventh reported cases of extraskeletal myxoid chondrosarcoma occurring in children. There are definite differences between this tumor with immature features and the extraskeletal myxoid chondrosarcoma in adults. Problems of differential diagnoses from other small round cell sarcomas also are discussed.     

Extraskeletal myxoid chondrosarcoma arising from the clavicle

This report presents an extremely rare case of extraskeletal myxoid chondrosarcoma (EMC) arising from the clavicular periosteum. To the best of our knowledge, this may be the first detailed report of its clinicopathological findings. The patient was a 48-year-old man. Plain radiography and CT did not demonstrate any osteolytic lesion or periosteal reaction in the right clavicle. However, MRI showed an isosignal-intensity mass on T1-weighted images and a homogeneous high signal intensity lesion on T2-weighted images. The histological findings of the widely resected tumor were consistent with the diagnosis of extraskeletal myxoid chondrosarcoma. Preoperative diagnosis of extraskeletal myxoid chondrosarcoma at an unusual location, as in this case, is difficult not only with imaging examinations alone, but sometimes even after histological examination of biopsy specimens.     

腮腺上皮-肌上皮癌伴高级别转化趋势临床病理观察

目的探讨腮腺上皮-肌上皮癌伴高级别转化临床病理特征及诊断依据。方法报道1例少见的腮腺上皮-肌上皮癌伴高级别转化趋势并文献复习。结果肿块囊实性,包膜完整。肿瘤组织大部分呈实性片状生长,缺乏导管成分。肌上皮样肿瘤细胞增生活跃,细胞核大、空泡状、核仁明显,核分裂相多见20～30/10HP。免疫标志:导管样上皮细胞EMA(+)、CAM5.2(+)、p63(-)、SMA(-)、S-100(-);肌上皮样细胞EMA(-)、CAM5.2(-)、p63(+)、SMA(+)、S-100(+)、PSA(-)、p53(++)、CyclinD1(+20%～30%)、Ki-67增殖指数约60%。结论腮腺上皮-肌上皮癌伴高级别转化是一种罕见的恶性肿瘤,诊断需依靠组织形态及免疫组织化学检测。     

Identification of genes regulated by the EWS/NR4A3 fusion protein in extraskeletal myxoid chondrosarcoma

Approximately 75?% of extraskeletal myxoid chondrosarcoma tumors (EMC) harbor a t(9;22) chromosome translocation generating an EWS/NR4A3 fusion protein that is thought to be instrumental in the tumoral process. Current evidence suggests that one function of the fusion protein is to overexpress target genes. We have generated an in vitro human cellular model in which the fusion protein is expressed in mesenchymal bone marrow stem cells. We have performed microarray analyses of these cells and identified several genes overexpressed in the presence of EWS/NR4A3 which are also overexpressed in EMC tumors. These genes and their products represent potential therapeutic targets for EMC tumors.     

A case of highly aggressive extraskeletal myxoid chondrosarcoma

Extraskeletal myxoid chondrosarcoma (EMC) is a soft tissue malignancy characterized by specific chromosomal abnormalities involving the TEC gene. This disease has historically been considered largely indolent both histologically and clinically. Rarer subsets of EMC exist that demonstrate aggressive histopathologic features and clinical behavior, though it remains unclear whether or not aggressive histopathology is predictive of outcome. Herein we present a case of EMC with aggressive histopathologic features that underwent rapid clinical progression despite initial treatment with curative intent. This case provides the context for a discussion of the existing literature regarding treatment, prognosis, pathology, and genetic/molecular features of EMC in general and aggressive EMC specifically.