丛状纤维组织细胞瘤3例临床病理分析

目的探讨丛状纤维组织细胞瘤(plexform fiborhistiocytic tumor,PFHT)的临床病理特征。方法回顾性分析3例PFHT的临床资料、病理学形态及免疫表型并复习相关文献。结果 PFHT好发于儿童及青少年,好发于肢体真皮深层及皮下,表现为丛状分布的多结节状肿物,镜下包含梭形纤维母细胞样细胞和单核组织细胞样细胞及多核巨细胞等三种成分。组织细胞样细胞及多核巨细胞表达CD68,梭形细胞表达SMA。结论 PFHT是一种罕见的中间交界性肿瘤,可复发和转移,结合临床特点、组织学形态及免疫表型可明确诊断。多分化潜能单核细胞可能与PFHT的发生相关。     

巨细胞血管母细胞瘤的临床病理学研究

目的 探讨巨细胞血管母细胞瘤(GCAB)的临床病理学特征、影像学特点、免疫学表型及其鉴别诊断.方法 对1例15个月的男患儿发生于左侧胫骨、腓骨中上段的GCAB进行影像学、光镜观察和免疫组织化学标记.结果 X线片及CT片显示左侧胫骨、腓骨中上段骨病变,以胫骨改变明显,病变骨干明显增粗变形,髓腔内密度增高不均匀,骨皮质不规则增厚,骨内缘局部皮质缺损,邻近的软组织肿胀.镜下病变组织位于骨小梁之间,肿瘤组织呈结节状、梁索状或丛状聚集,瘤细胞卵圆形至梭形,散在胞质丰富、核仁明显的单核组织细胞样巨细胞及多核巨细胞;肿瘤组织内可辨认出数量不等的无或含有少量红细胞的微血管腔隙;部分瘤细胞呈同心圆样围绕在微血管腔隙周围并与周围间质胶原共同形成洋葱皮样外观.肿瘤间质疏松,其间为少量梭形纤维母细胞样细胞、星形间质细胞、单个核炎性细胞及散在的肥大细胞.免疫组织化学标记显示,卵圆形至梭形瘤细胞及巨细胞弥漫性强阳性表达波形蛋白;多数瘤细胞显著表达CD31及CD34,少数弱阳性表达第八因子相关抗原(FⅧRAg);单核组织细胞样巨细胞及多核巨细胞强阳性表达CD68,偶见个别巨细胞胞质内局灶性表达FⅧRAg;肿瘤实质内小血管腔隙周围瘤细胞显著表达α-平滑肌肌动蛋白(SMA),其他部分瘤细胞呈弱阳性表达.结论 GCAB是一种罕见的发生于婴幼儿并具有独特形态学特征及局部具有侵袭性行为的血管源性肿瘤,不仅可发生于皮肤、黏膜、皮下及深部软组织,还可发生于骨内.     

伴有巨细胞的血管外皮细胞瘤/孤立性纤维性肿瘤的临床病理观察

目的 探讨伴有巨细胞的血管外皮细胞瘤/孤立性纤维性肿瘤的病理学特点、诊断及鉴别诊断要点.方法 采用HE及免疫组织化学(EnVision法)方法 ,对7例分别发生于眼眶及眶外的伴有巨细胞的血管外皮细胞瘤/孤立性纤维性肿瘤进行病理学分析.结果 2例为发生于眼眶的肿瘤,其中1例为复发病例;5例为眶外肿瘤.镜下特征:肿瘤境界清楚,由无明显异型性的圆形或梭形的肿瘤细胞与胶原混杂组成,富含血管,部分区域形成假血管腔隙样结构,多核巨细胞衬于腔隙的内壁或散布于间质中.免疫组织化学标记显示肿瘤细胞和巨细胞表达CD34.7例均行肿块切除术,术后随访4例,均无复发.结论 伴有巨细胞的血管外皮细胞瘤/孤立性纤维性肿瘤是一种眼眶和眶外组织的中间型软组织肿瘤,局部切除多可治愈,组织学上需与巨细胞纤维母细胞瘤、软组织多形性透明变性血管扩张性肿瘤、血管瘤样型纤维组织细胞瘤相鉴别.     

丛状纤维组织细胞瘤3例临床病理观察

目的 探讨丛状纤维组织细胞瘤临床病理特点及鉴别诊断要点.方法 对3例丛状纤维组织细胞瘤进行临床资料及光镜和免疫组化标记观察.结果 组织学特点:纤维结缔组织把肿瘤细胞分隔成丛状或结节状.结节则由单核或多核组织细胞样细胞构成,结节外周围绕短梭形的纤维母/肌纤维母细胞样细胞.部分结节则主要由纤维母细胞样细胞组成,不见多核巨细胞.免疫组化染色显示:单核或多核组织细胞样细胞表达CD68、α-ACT和溶菌酶,梭形细胞表达Vim和SMA.结论 丛状纤维组织细胞瘤是一种低度恶性的软组织肿瘤,其诊断主要依靠组织病理学和免疫组化标记.     

成人梭形细胞横纹肌肉瘤9例临床病理学分析

目的探讨成人梭形细胞横纹肌肉瘤(spindle cell rhabdom yosarcoma,SRMS)的临床病理学特征、免疫表型和鉴别诊断。方法回顾性分析9例成人SRMS的临床资料、病理学形态和免疫组织化学标记结果。结果9例患者中7例男性,2例女性。年龄20～80岁,平均45岁。发生于头颈部4例,包括右下颌、咽部、鼻咽部和左上颌,占总数的44%。前臂、腰部、大腿、小腿、睾丸分别1例。均表现为逐渐增大的肿块。肿块直径2～14cm,平均5.9cm。组织学上主要由具有轻度非典型性的梭形细胞组成,呈交叉的束状排列,散在于梭形细胞之间有少量的梭形或多角形的横纹肌母细胞。在2例局灶区域可见明显的间质硬化,2例局灶区域可见假血管瘤样结构,1例散在少量疏松黏液样区域,在1例可见局灶区域瘤细胞呈轻度的多形性,但不见奇异核的横纹肌母细胞。免疫组织化学标记显示,梭形细胞表达vimentin、desmin、CD99和MyoD1,多数表达myogenin和MSA(分别为6例和7例),均不表达S-100、CD34、CK和HMB-45。术后随访6个月～4年,发生于睾丸患者有腹腔静脉旁转移,发生于小腿者有肝转移。4例复发,2例死亡。结论成人SRMS少见,好发于男性,头颈部是最好发部位,具有较强的侵袭性行为。形态学上应与多种梭形细胞肿瘤相鉴别。     

钙化性纤维性肿瘤的临床病理学分析

目的探讨钙化性纤维性肿瘤(calcifying fibrous tumor,CVF)的临床病理学特征、免疫表型和鉴别诊断。方法回顾性分析7例CFT的临床资料、病理学形态和免疫组化标记结果。结果患者中1例为少年,6例均为成年人,年龄14—50岁,平均37岁。5例临床表现为局部缓慢性生长的无痛性肿块,2例为术中偶然发现。肿瘤分别位于腹腔／盆腔(3例)、颈部(2例)、左腹股沟(1例)和左小腿(1例)。眼观：肿块境界清楚,卵圆形或结节状,质地坚韧。镜检：肿瘤由大量胶原化的纤维结缔组织组成,其间夹杂少量梭形细胞。特征性形态学表现为在胶原化的纤维组织间可见散在的钙化灶或砂砾小体,间质内伴有多少不等的淋巴细胞和浆细胞浸润灶,部分病例中可见生发中心形成。免疫组化标记显示,梭形细胞主要表达vimentin,不表达CD34、S-100蛋白、actin、desmin、h-caldesmon和ALK1等标记。随访6例,均无复发。结论CFT是一种不同于炎性肌纤维母细胞瘤的良性纤维母细胞性肿瘤。CFT不仅好发于儿童和青少年,也可发生于成年人。组织学上应与伴有钙化的纤维母细胞／肌纤维母细胞性病变相鉴别。     

血管肌纤维母细胞瘤临床病理特征

目的：探讨血管肌纤维母细胞瘤的临床病理形态特征及鉴别诊断。方法：对2例血管肌纤维母细胞进行组织病理学、免疫组织化学研究,结合文献资料分析本病的临床表现、病理形态特点及鉴别诊断。结果：血管肌纤维母细胞瘤呈大片黏液背景、丰富薄壁海绵样血管和梭形上皮样细胞即肌纤维母细胞,后者胞质丰富,呈嗜酸性,核卵圆或杆状,两端对称变细或稍钝,瘤细胞分布有明显的疏密区,密集区聚于血管周围,成束或链状排列、疏松区弥散于黏液背景中,且瘤细胞常与胶原纤维伴行。结论：血管肌纤维母细胞瘤为良性肿瘤,好发于女性外生殖器,起源与肌纤维母细胞相关,既向纤维,又向平滑肌分化,且伴有丰富的海绵样薄壁血压和间质黏液变性。     

巨细胞血管纤维瘤的临床病理特征

目的 探讨巨细胞血管纤维瘤(giant cell angiofibroma,GCA)临床病理学特征.方法 收集3例GCA的临床病理资料,进行病理学分析,并复习相关文献.结果 患者年龄为15、45和69岁,1例男性(眼睑),2例女性(肩背部、眼眶),均表现为缓慢生长的无痛性肿块,边界较清.镜下肿瘤表现出3种结构2种细胞:肿瘤细胞分密集区和稀疏区;富含血管和内衬巨细胞的假血管腔隙,腔隙间由无一定排列的增生的圆形、卵圆形、短梭形细胞组成,细胞无异型性;间质胶原化或黏液样变性,局部类似孤立性纤维瘤的形态.3例均表达CD34、CD99、vimentin、Bcl-2.结论 GCA是具有特征性的好发于成年人眶区,亦可发生于眶区以外的良性或低度恶性潜能的肿瘤,需与孤立性纤维瘤、巨细胞纤维母细胞瘤等鉴别.     

CD99在软骨母细胞瘤中的表达及其意义

目的探讨CD99在软骨母细胞瘤的表达。方法 应用免疫组织化学S-P法，观察l2例软骨母细胞瘤的病理形态。结果 12例软骨母细胞瘤中9例CD99阳性，在无基质的软骨母细胞和部分网状基质内软骨母细胞处表达，基质明显区和钙盐沉积处的软骨母细胞和软骨细胞均阴性。S-100蛋白、Vim、NSE弥漫强阳性，多核巨细胞CD68阳性。结论CD99对软骨母细胞瘤阳性无特异性诊断价值。联合应用CD99、S-100蛋白和Vim等标记，进一步说明软骨母细胞瘤是由胚胎性软骨母细胞发生。     

化生性胸腺瘤2例临床病理分析

目的：探讨化生性胸腺瘤的临床及病理学特征。方法：应用光镜及免疫组织化学方法观察2例化生性胸腺瘤的组织学特点及免疫学表型,并复习相关文献。结果：2例均为男性,年龄55岁及56岁。组织学肿瘤显示双相分化特点,上皮细胞区域与梭形细胞区域交错分布并相互移行。上皮细胞呈相互吻合的束状、岛状及宽大的梁状排列,细胞轻度异型,可见核沟及核内假包涵体,偶见核分裂像;梭形细胞呈短束状或席纹状排列,细胞温和,未见核分裂像。免疫表型：上皮细胞区域CK19和AE1/AE3呈强阳性表达,上皮膜抗原（epithelial membrane antigen,EMA）弱阳性;梭形细胞区域表达Vimentin、Bcl-2及CD99,AE1/AE3局灶阳性,EMA弱阳性。两种区域中Ki67指数均〈5%。间质淋巴细胞CD3、CD5、CD20阳性,不表达Td T和CD99。结论：化生性胸腺瘤是一种罕见的良性或低度恶性胸腺肿瘤,诊断依靠病理组织学和免疫组织化学标记,完整切除预后良好。     

色素型隆突性皮肤纤维肉瘤8例光镜、免疫组织化学及电镜观察

目的 探讨色素型隆突性皮肤纤维肉瘤(DFSP)临床病理特征和鉴别诊断。方法 对8例色素型DFSP进行了光镜和免疫组化染色观察，其中4例做电镜观察。结果 色素型DFSP患者的年龄、性别、肿瘤部位和肿瘤生长方式与普通型DFSP相同。随访结果3例发生复发，无1例发生转移。4例肿瘤切面见浅黑色或黑色斑。所有病例既可见典型的DFSP组织形态学特征，同时又见散在性分布、数量多少不等的黑色素细胞。本组6例瘤组织显示普通型DFSP图像，2例部分区域显示纤维肉瘤型DFSP图像，偶可见血管壁平滑肌增生形成的肌样结节和黏液样变性区。Fontana染色黑色素细胞呈阳性，Perls染色则为阴性。梭形瘤细胞呈vim和CD34阳性，CD34阳性具有一定辅助诊断价值，S-100蛋白和NSE阴性；黑色素细胞呈S-100蛋白和Vim阳性；纤维肉瘤型DFSP区Ki—67阳性表达率高于普通型DFSP区。电镜观察：可见梭形纤维母细胞样细胞和含有许多成熟黑色素小体黑色素细胞。结论 色素型DFSP是一种少见的DFSP亚型，临床病理特征与普通型DFSP对比有许多共同之处，需与动脉瘤样型纤维组织细胞瘤、弥漫性神经纤维瘤、细胞性蓝痣和促结缔组织增生性黑色素瘤鉴别。     

Giant cell fibroblastoma: a report of three cases with histologic and immunohistochemical evidence of a relationship to dermatofibrosarcoma protuberans

PROBLEM CONSIDERED: Giant cell fibroblastoma (GCF) is a rare mesenchymal neoplasm, which is classified as a fibrohistiocytic tumor of intermediate malignancy owing to its propensity for local recurrence, although metastasis has not been documented. Prior reports have linked GCF to dermatofibrosarcoma protuberans (DFSP), given overlapping clinical and histologic features. METHODS: This report documents three additional cases of GCF that further support the contention that this lesion is histogenetically related to DFSP. RESULTS: All three lesions occurred on the trunk of patients whose ages were 4, 28, and 38 years. One case that histologically resembled a GCF on initial excision recurred with areas of both GCF and DFSP. A second recurrence was composed entirely of DFSP. Another case contained areas of both GCF and DFSP, as well as a focus that was felt to be undergoing fibrosarcomatous change. The third case consisted entirely of GCF. Immunohistochemically, all three lesions showed intense immunoreactivity for CD34 in the GCF component. CD34 also strongly marked the cells in those cases with a DFSP component. CONCLUSIONS: Although GCF may not represent the "juvenile form" of DFSP, as previously suggested, the evidence strongly supports a histogenetic relationship between these two lesions, even though the cell of origin remains obscure.     

FNA diagnosis of giant cell fibroblastoma: A case report of an unusual pediatric soft tissue tumor

Giant cell fibroblastoma (GCF) is a rare pediatric soft tissue tumor, which exists on a spectrum with dermatofibrosarcoma protuberans (DFSP). Histologic features are well established for these entities; however, cytologic findings have not been well characterized. We report for the first time a case of GCF, confirmed by cytogenetics, with mixed DFSP features. In this case of an 8‐month‐old boy, a fine needle aspiration specimen showed a low‐grade spindle cell tumor, with oval to spindled cells dispersed singly and in patternless groups, and with occasional giant cells. Subsequent histologic features were consistent with GCF, which is an uncommon, CD34 positive, soft tissue neoplasm with a distinct molecular aberration. This case emphasizes the differential diagnosis in pediatric soft tissue tumors and stresses the unique features of GCF. Diagn. Cytopathol. 2015;43:325–328. © 2014 Wiley Periodicals, Inc.     

Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans

Giant cell fibroblastoma (GCF) is a subcutaneous mesenchymal neoplasm characterized by the chromosomal t(17;22), which results in the formation of the fusion gene COL1A1-PDGFB. This same fusion gene is also seen in the supernumerary ring chromosome of dermatofibrosarcoma protuberans (DFSP). Several studies have addressed the molecular genetics of DFSP but molecular cytogenetic characterization of individual areas and cell components in pure GCF and GCF/DFSP hybrids have not been performed. Herein, we studied the frequency and genomic copy number of COL1A1-PDGFB in pure GCF and GCF/DFSP hybrids, and identified the molecular cytogenetic signatures in individual cells in each component. Four pure GCF and nine GCF/DFSP hybrids were studied. All tumors exhibited classical histological features and CD34 expression. COL1A1 and PDGFB rearrangements were evaluated by fluorescence in situ hybridization (FISH) using probes for COL1A1 and PDGFB on paraffin-embedded thin tissue sections. All GCF and GCF/DFSP hybrids showed unbalanced rearrangements of COL1A1-PDGFB at the molecular cytogenetic level. Genomic gains of COL1A1-PDGFB were found predominantly in the DFSP component of GCF/DFSP hybrids but in none of the pure GCF, suggesting that these gains are associated with the histologic evolution of GCF into DFSP. The molecular cytogenetic abnormalities were found not only in the spindle/stellated cells but also in individual nuclei of the multinucleated giant cells, suggesting that these cells may result from the fusion of individual neoplastic cells.     

伴有肌样/肌纤维母细胞性分化的隆突性皮纤维肉瘤的临床病理分析

目的 探讨隆突性皮纤维肉瘤（ＤＦＳＰ）中肌样／肌纤维母细胞性分化的本质及其临床病理学意义。方法 采用常规ＨＥ切片对１２４例ＤＦＳＰ进行筛选,对6例伴有肌样／肌纤维母细胞性分化的ＤＦＳＰ病例进行免疫组织化学标记,其中２例加做电镜检测。结果 肌样／肌纤维母细胞性分化多出现在纤维肉瘤型ＤＦＳＰ（ＦＳ－ＤＦＳＰ）中,表现为肿瘤周边部或肿瘤内散在性分布的深嗜伊红色小结节或短要束,由梭形细胞组成,细胞多无异型性,核分裂象也罕见,形态上似平滑肌细胞或肌纤维母细胞。免疫组织化学标记显示肌样区域细胞表达α－平滑肌肌动蛋白和肌物质特异性肌动抗原,不表达ＣＤ３４;电镜观察证实细胞含有质膜下微丝束、局灶性致密体及微胸饮囊泡样结构,与肌纤维母细胞相一致,结论 ＤＦＳＰ中的肌样／肌纤维母细胞性分化可能是间质中肌纤维母细胞增生的结果,并非代表了瘤细胞的真性肌纤维母细胞性分化。     

隆突性皮肤纤维肉瘤72例临床病理学观察

目的 观察隆突性皮肤纤维肉瘤(DFSP)的临床病理特点，探讨诊断、鉴别诊断及其组织起源。方法 对72例DFSP病例进行临床表现、组织形态学、免疫组化研究，16例真皮纤维瘤(DF)、19例神经纤维瘤(NF)、17例纤维肉瘤(FS)分别作为对照。结果 72例DFSP好发中青年男性，肿瘤为单发或多发性结节，位于真皮，可浸润皮下脂肪及横纹肌。组织形态除经典的车辐状或席纹状结构外，还存在一些变异如黏液变性、伴FS区域、Bednar瘤等。DFSP组87％CD34阳性，NF组42％CD34阳性。结论 掌握DFSP的临床病理特点，避免与其它皮肤梭形细胞肿瘤尤其是DF、NF及黏液性肿瘤混淆。CD34阳性提示DFSP可能与神经鞘膜有关。     

Giant cell fibroblastoma. A case report and immunohistochemical comparison with ten cases of dermatofibrosarcoma protuberans.

A 7-year-old boy with giant cell fibroblastoma (GCF) of the skin and subcutaneous tissue of the right chest wall is described. To date, the histogenesis of GCF has not been clarified. The reason for the diversity of immunohistochemical data among various authors may be because the specimens studied were from only part of the lesion, or reduction of antigenicity through the preparation process. However, our findings based on studies of many specimens from various parts of the tumor for accurate immunohistochemical evaluation suggest that GCF may be a myofibrohistiocytic tumor. Recently, the suggestion that GCF is a juvenile form of dermatofibrosarcoma protuberans (DFSP) has been reported. In addition to the present case, we performed immunohistochemical examination of 10 cases of definitely diagnosed DFSP for comparison. The immunohistochemical characteristics of these two neoplasms were concordant. However, from clinical and morphological viewpoints, it seems premature to recognize GCF as a juvenile form of DFSP.     

Composite dermatofibrosarcoma protuberans-giant cell fibroblastoma recurring as Bednár tumor-giant cell fibroblastoma with mucoid lakes and with amputation neuroma

We report an unusual case of composite giant cell fibroblastoma-dermatofibrosarcoma protuberans (DFSP) that, in its second recurrence, contained a pattern of Bednár tumor (BT) and giant cell fibroblastoma (GCF). The recurrent tumor showed extreme myxoid change with creation of mucoid lakes, which mimicked a pattern of myxoid liposarcoma. One area in the recurrent lesion contained amputation neuroma overgrown with neoplastic spindle cells, which simulated a nerve sheath neoplasm. This case demonstrates common histogenesis of GCF, DFSP and BT, and it shows how broad morphological spectrum can be produced by a composite tumor, especially when the tumor includes unconventional growth pattern or additional non-neoplastic lesion.     

Gynecomastia in type-1 neurofibromatosis with features of pseudoangiomatous stromal hyperplasia with giant cells. Report of two cases

We describe the histological finding in two cases of gynecomastia in patients with von Recklinghausen's disease. The histological and immunohistochemical features of the two cases were reviewed and compared with those of five cases of gynecomastia in men without clinical evidence of neurofibromatosis. In both patients bearing von Recklinghausen's disease, the breast stroma showed features consistent with pseudoangiomatous stromal hyperplasia (PASH). It was characterised by anastomosing empty spaces lined by spindle and multinucleated giant cells which were positive with CD34 and anti-vimentin antisera and negative with anti-FVIII and CD31 antisera. In two of five of the control cases without neurofibromatosis, the mammary stroma showed focal areas with features of PASH, but no multinucleated giant cells were present in any case. PASH with giant cells should be recognised as a feature of gynecomastia in von Recklinghausen's disease. The presence of multinucleated giant cells is very unusual and, although more cases have to be studied, these cells seem to be a feature of PASH occurring in patients with von Recklinghausen's disease.