骨外黏液样软骨肉瘤2例报道及文献复习

目的探讨骨外黏液样软骨肉瘤的临床病理学特征。方法对2例骨外黏液样软骨肉瘤进行光镜观察及免疫组化染色标记,并通过相关文献复习,对病理诊断及鉴别诊断等指标进行分析。结果1例发生于足底,1例发生于乳腺。光镜下肿瘤呈分叶状,边界清。细胞为圆形及短梭形,成束状排列于黏液样基质中,局部可见围血管形成玫瑰花结样结构。部分肿瘤细胞异型性明显。免疫表型:vimentin、NSE、Syn均呈阳性;例1EMA灶性阳性,例2阴性;S-100蛋白、CgA及CK均阴性。结论骨外黏液样软骨肉瘤为罕见的软组织恶性肿瘤,具特异性的组织病理学特点。主要发生于四肢,少数可发生于实质器官,至今未有乳腺原发病例报道。部分肿瘤细胞可发生间变导致诊断困难,须与脊索瘤、骨内软骨肉瘤、化生性癌及黏液性肿瘤等鉴别。     

骨外黏液样软骨肉瘤5例并文献复习

目的：探讨骨外黏液样软骨肉瘤( extraskeletal myxoid chondrosarcoma, EMC)的临床病理学特征、诊断和鉴别诊断。方法回顾性分析5例EMC的临床病理学特征并复习相关文献。结果5例患者中男性4例,女性1例,年龄32~62岁,中位年龄52岁。肿瘤位于大腿4例,左胸部1例。镜检：瘤细胞为圆形或卵圆形,形态及大小较为一致,细胞胞质嗜酸性,核小而深染,圆形或卵圆形,呈特征性的细网状、带状或假腺泡状排列,细胞之间为数量不等的黏液样物质。免疫表型：5例肿瘤细胞均强阳性表达vimentin,2例局灶表达S-100,1例表达Syn;不表达CK、p63、EMA、CD34、SMA等。 RT-PCR检测显示EMC染色体9号与22号易位。结论 EMC是一种较为罕见的疾病,临床及影像学无特征性,确诊主要依靠病理组织学检查、免疫表型及分子遗传学检测等方法;EMC是一类生长缓慢,但局部复发和转移率高的恶性肿瘤。     

脑转移性骨外黏液样软骨肉瘤1例并文献复习

目的：探讨脑转移性骨外黏液样软骨肉瘤( extraskele-tal myxoid chondrosarcoma, EMC)的临床病理学特征、免疫表型及鉴别诊断。方法采用免疫组化MaxVision法对1例脑转移性EMC进行观察并复习相关文献。结果患者既往病史为右小腿黏液样软骨肉瘤,术后复发2次;MRI示右侧颞枕顶叶见团片状囊实性占位,病灶实性部分见片状不均匀明显强化;镜下见富于软骨黏液样间质内可见圆形或小梭形散在分布的肿瘤细胞,细胞胞质嗜酸性,细胞核蓝染、较一致,核分裂象罕见。免疫表型：S-100、vimentin、Syn及NSE均阳性。结论 EMC为少见的恶性软组织肿瘤,脑转移性EMC临床极为罕见。     

骨外黏液样软骨肉瘤一例

患者男,5 5岁。因“发现右上腹包块5年,疼痛30d”于2 0 0 2年12月2 4日入院。查体:腹平软,右肋下约10cm处可扪及一包块,无压痛及反跳痛,肝肾区无叩痛,肠鸣音正常。于2 0 0 2年12月30日行右侧腹壁肿瘤切除术,术中见右侧腹壁有一约15cm×10cm×12cm大小灰红色肿物,累及腹膜浅层及肌层,部分区域与大网膜粘连,肿瘤未侵及皮下,压迫右肝前叶,余腹内脏器无异常。肿瘤质硬,边界尚清楚,肿物切面质脆,呈鱼肉状,中央部分坏死。病理检查:灰白灰红色组织1个,大小为15cm×10cm×8cm ,表面有一层纤维包膜,切面淡黄色,鱼肉状,部分区域呈黏液样,可见一8cm×6c…     

骨外黏液样软骨肉瘤1例

患者男性,44岁,左大腿无痛性肿块2年,无外伤史.查体:左大腿深部触及一大小3 cm×2.5 cm×2 cm肿物,质实,界限清,无明显压痛,无其它阳性体征.     

细胞型骨外黏液样软骨肉瘤1例临床病理分析

目的 探讨细胞型骨外黏液样软骨肉瘤(extraskeletal myxoid chondrosarcoma,EMC)的临床病理学特征及其鉴别诊断.方法 对1例盆腔细胞型EMC进行EnVision法免疫组化标记和影像学观察,并复习相关文献.结果 影像学检查示盆腔内巨大占位.镜检示瘤组织呈结节状,由密集排列的瘤细胞及少量黏液样基质组成,局灶少细胞区软骨样小岛形成;瘤细胞呈圆形或多边形,胞界清楚,胞质丰富,强嗜酸性或半透明,其中可见微小空泡,核居中或偏位,圆形或轻度不规则形,染色质细颗粒状,可见1个明显核仁,核分裂象2～3个/10 HPF.免疫组化显示肿瘤细胞表达vimentin、S-100、GFAP及Bcl-2,其他受检的抗体无表达.结论 EMC影像学无特征性表现,组织学上需与多种肿瘤相鉴别,当出现软骨样分化和S-100阳性染色时有助于该病的诊断.     

舌前部外胚间叶软骨黏液样瘤1例并文献复习

目的 探讨舌前部外胚间叶软骨黏液样瘤(ectomesenchymal chondromyxoid tumour, ECT)的临床病理学特征。方法 回顾性分析1例ECT的临床病理学及免疫表型特征,并复习相关文献。结果 肿瘤界限清楚,无纤维性包膜,呈单个分叶状结节。肌纤维和神经束内陷于肿瘤内。在黏液或软骨样背景下,肿瘤由短梭形至卵圆形细胞组成,细胞温和,偶见胞核增大、不典型性。未见核分裂象及组织坏死。免疫表型：GFAP和CD56弥漫中～强阳性,S-100和SMA部分阳性,CK7、CK20、CKpan、CD68、p63均阴性。Ki-67增殖指数<1%。结论 ECT是一种发生于舌前部的罕见良性肿瘤,具有独特的组织病理学及免疫表型特征,明确诊断需结合临床病史、组织学形态及免疫表型,排除其他黏液性或软骨性疾病后方可确诊。     

低度恶性纤维黏液样肉瘤临床病理分析

目的:探讨低度恶性纤维黏液样肉瘤(low-grade fibromyxoid sarcoma,LGFMS)的临床病理特征和诊断要点.方法:分析3例LGFMS的临床资料,观察组织学形态、免疫表型及分子病理检测结果,讨论鉴别诊断并复习相关文献.结果:患者均为女性,中位年龄57岁,肿瘤分别位于右侧膝关节前方、右侧乳腺和左侧上颌窦.肿块最大径为2.2～10.0 cm,边界欠清,似有包膜,切面灰白,部分区域呈半透明状,质中有黏液感.镜下见肿瘤组织主要由梭形纤维母细胞样细胞构成,包括两种形态区域,其一为细胞稀疏的胶原样区域;其二为细胞相对较丰富的黏液样区域.肿瘤组织中可见较多弓形血管并伴有血管周玻璃样变性.瘤细胞形态温和,无明显异型性,核分裂象罕见.免疫组织化学染色结果示:vimentin,MUC4,CD99及bcl-2阳性表达,SMA,desmin,S100,CD34,ALK及myogenin阴性表达.发生于右侧乳腺的病例行荧光原位杂交(fluorescent in situ hybridization,FISH)检测,检出FUS基因易位.发生于右侧膝关节和乳腺的2个病例分别随访20个月和51个月,患者均无瘤生存.发生于左侧上颌窦的病例于手术后12个月死亡.结论:LGFMS常见于年轻人,但各年龄段患者均可受累.好发部位为下肢近端和躯干,少见于头颈部和乳腺.LGFMS具有温和的多样性的组织学形态,容易误诊为具有黏液样结构的其他梭形细胞肿瘤.LGFMS具有转移和复发的恶性生物学行为,治疗上需对肿块作完整切除并长期随访观察.     

毛细胞黏液样星形细胞瘤3例报道并文献复习

目的 探讨毛细胞黏液样星形细胞瘤(pilomyxoid astrocytoma,PMA)的临床病理特点及鉴别诊断.方法 报道3例PMA患者的临床资料,并对其进行组织学观察及免疫组化(EnVision-plus法)标记,其中1例行电镜观察.结果 本组PMA均为女性,年龄分别为13岁、4岁和17岁.肿瘤分别位于右侧丘脑、右侧颞叶基底节区及下丘脑/视交叉区.镜下见双极性的梭形瘤细胞呈星网状散在分布于黏液背景中,部分区域呈血管中心性生长,瘤细胞异型性小,核分裂象偶见,间质血管增生明显.1例见大片出血,1例见少许嗜酸性颗粒小体及小灶坏死,3例PMA均未见双相性结构及Rosenthal纤维.免疫组化标记示瘤细胞表达GFAP、vimentin、S-100及Olig-2,而CKpan、EMA、NF、CgA、Neu-N、p53均呈阴性表达,Syn有2例局灶阳性,Ki-67阳性率为1%～2%.仅有的1例电镜表现除具有伸长细胞特征外,胞质内还可见神经内分泌样颗粒.结论 PMA为毛细胞星形细胞瘤(pilocytic astrocytoma,PA)的亚型,与经典PA相比,具有独特的组织学特征,并具有更强的侵袭性,故应加强对其的认识.     

Extraskeletal myxoid chondrosarcoma: a histochemical and immunohistochemical study

In reviewing a large series of soft tissue sarcomas, nine cases of extraskeletal myxoid chondrosarcoma have been retrieved. These tumours, which principally presented in middle-aged adults, have been examined histochemically to determine the heteroglycan content of their myxoid matrix and immunohistochemically for the presence of S-100 protein. The principal mucopolysaccharides identified were chondroitin-4 and 6-sulphate and keratan sulphate; each of the tumours was S-100 positive. The relevance of these findings to the histogenesis and differential diagnosis of these uncommon neoplasms is discussed.     

Extraskeletal myxoid chondrosarcoma: a light microscopic, immunohistochemical, ultrastructural and immuno-ultrastructural study indicating neuroendocrine differentiation

AIMS: Extraskeletal myxoid chondrosarcoma is a rare low-grade soft-tissue sarcoma with locally aggressive and metastasizing potential. Extraskeletal myxoid chondrosarcoma has distinctive clinical, light microscopic, immunophenotypic, cytogenetic and ultrastructural features. Evidence that extraskeletal myxoid chondrosarcoma often shows neuroendocrine features was first provided by Chhieng et al. on the basis of an immunohistochemical and ultrastructural study of seven cases. Our study aims to further confirm by immunohistochemistry and ultrastructural studies, including immunoelectron microscopy, that extraskeletal myxoid chondrosarcoma indeed may show neuroendocrine differentiation. METHODS AND RESULTS: Fifteen cases of extraskeletal myxoid chondrosarcoma and seven control cases of skeletal chondrosarcomas were studied. Extensive immunohistochemical analysis was performed in all cases and ultrastructural studies were done in 11 extraskeletal myxoid chondrosarcomas and three skeletal chondrosarcomas. Immunoelectron microscopy was performed on one case each of extraskeletal myxoid chondrosarcoma and skeletal chondrosarcoma. Extraskeletal myxoid chondrosarcomas expressed neuron-specific enolase (100%), synaptophysin (87%), S100 (50%), PGP 9.5 (40%), and epithelial membrane antigen (25%). Co-expression of synaptophysin and PGP 9.5 was observed in six tumours. Skeletal chondrosarcomas showed expression of S100 protein, vimentin and neuron-specific enolase in all cases. Synaptophysin, chromogranin and PGP 9.5 were not expressed in any skeletal chondrosarcoma case. Ultrastructurally, extraskeletal myxoid chondrosarcoma 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 three cases there were easily found 140-180 nm diameter membrane-bound dense-core granules in cell bodies and in processes, unrelated to the Golgi, compatible with neurosecretory granules. Fewer such granules were present in the remaining extraskeletal myxoid chondrosarcoma cases, three of which also contained intracisternal tubules typical of extraskeletal myxoid chondrosarcoma. The skeletal chondrosarcomas had scalloped cell surfaces, prominent rough endoplasmic reticulum focally distended with secretory product, and lacked neurosecretory granules. Intermediate filaments were prominent in both extraskeletal myxoid chondrosarcoma and skeletal chondrosarcomas. Immunoelectron microscopy showed synaptophysin expression in the extraskeletal myxoid chondrosarcoma but not in the skeletal chondrosarcoma case. CONCLUSIONS: This study confirms that a substantial proportion of extraskeletal myxoid chondrosarcomas show immunophenotypic and/or ultrastructural evidence of neuroendocrine differentiation, and are unlikely to be related to conventional skeletal chondrosarcomas.     

Extraskeletal myxoid chondrosarcoma: updated clinicopathological and molecular genetic characteristics

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft-tissue sarcoma characterized by distinctive morphological and cytogenetical features. As its name implies, EMC was believed to represent a variant of soft-tissue chondrosarcoma owing to its histological resemblance to chondroblastic tissue in the early stages of cartilage development or chondroid tumors such as skeletal chondrosarcoma. However, the chondroid nature has been a subject of controversy, and its line of differentiation remains to be determined. Consequently, the tumor is provisionally classified into a group of tumors of uncertain differentiation in the revised World Health Organization classification of tumors of soft tissue and bone. Moreover, immunohistochemical and ultrastructural features of neural or neuroendocrine differentiation have been recently reported in a subset of EMC, providing a new insight into their histogenetic nature. Chromosomal rearrangements involving 9q22, such as t(9;22)(q22;q12), and resultant NR4A3 fusion genes are tumor-type specific or pathognomotic for this entity and are assumed to play an important role in the development of EMC. Although the biological mechanisms and functions are largely unknown, the NR4A3-related pathway is considered a potential molecular target for future therapeutic intervention. Because of its protracted but resilient nature, a tenacious and long-term follow up is necessary for any patient.     

Fine‐needle aspiration cytology of extraskeletal myxoid chondrosarcoma: A case report

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue tumor arising in extremities. We report a typical case of EMC in left inguinal region of a 71‐year‐old man, which was first approached by fine‐needle aspiration, followed by surgical excision and subsequently diagnosed by microscopic examination and immunohistochemical study. We discuss briefly the differential diagnosis. It is important to separate EMC from other myxoid soft tissue tumors. We point out that although cytologic features may be orientating to a myxoid tumor, may not be completely distinctive. Diagn. Cytopathol. 2010. © 2009 Wiley‐Liss, Inc.     

具有神经内分泌分化的肺粘液样软骨肉瘤

目的：探讨肺原发性具有神经内分泌分化的粘液样软骨肉瘤的病理特征。方法：通过HE、组化、免疫组化及电镜观察1例肺粘液样软骨肉瘤。结果：肿瘤由粘液样基质和疏网状结构的梭形及圆形细胞、软骨母细胞样细胞和小圆形细胞组成,3种细胞梯度移行,形成典型粘液样软骨肉瘤及类似原始性神经外胚层肿瘤结构。组化染色显示AB（pH2.5),TB(pH4.0)阳性,Grimelius嗜银颗粒阳性。免疫表型：S－100蛋白、vimentin,NSE,Syn阳性,小圆细胞和软骨母细胞样细胞还显示HBA71、CgA、Leu7、EMA阳性。超微结构;瘤细胞胞质分布致密核心颗粒。结论：证实该例为肺原发性具有神经内分泌分化粘液样软骨肉瘤。     

Malignant myxoid endobronchial tumour: a report of two cases with a unique histological pattern

AIMS: To present two cases of malignant endobronchial myxoid tumours with a highly distinctive sarcomatoid pattern not previously described at this site, and discuss their histogenesis in relation to previously documented endobronchial neoplasms. METHODS AND RESULTS: Both tumours presented in young adult females and were purely sarcomatoid with interweaving cords of small uniform, rounded or slightly elongated cells lying within a myxoid stroma. The stroma was alcian blue positive, but sensitive to hyaluronidase in both cases. The tumour cells contained a small volume of periodic acid-Schiff-positive eosinophilic cytoplasm and stained positively for vimentin only, but there also was a prominent background population of CD68-positive dendritic cells. Ultrastructural studies showed that the tumour cells contained an excess of rough endoplasmic reticulum, with some of the cisternae appearing dilated, and scalloping of the cell surfaces, although no intracisternal tubules were identified. CONCLUSIONS: Although the histological pattern was most reminiscent of extraskeletal myxoid chondrosarcoma, the sensitivity of the stroma to pretreatment with hyaluronidase precluded the diagnosis. However, there were similarities with the sarcomatoid component of malignant salivary gland-type mixed tumours of the lung and this tumour possibly represents a variant of a bronchial gland tumour. Despite this uncertainty over origin, this pattern should be recognized as part of the differential diagnosis of myxoid tumours in the lung, as an apparently indolent type of malignant endobronchial neoplasm.