软组织透明细胞肉瘤5例临床病理分析

透明细胞肉瘤（clear cell sarcoma.CCS）又称为软组织恶性黑色素瘤（malignant melanoma of solt parts.MMSP）,是一种具有色素细胞分化的软组织肉瘤,由Enzinger于1965年首次报道,CCS好发于20-40岁青年人的四肢末端,肿瘤常与腿鞘或腿膜相连。     

6例透明细胞肉瘤的临床病理及免疫组化观察

对６例罕见的透明细胞肉瘤作了光镜和免疫组化观察。光镜下瘤细胞呈多边形，胞界不清，胞浆丰富透明，含ＰＡＳ阳性物，核大，空泡状，核仁大，瘤细胞聚集Ｌｙｓｏｚｙｍｅ阳性和Ｆｉｂｒｏｎｅｃｔｉｎ，Ｖｉｍｅｎｔｉｎ，Ｄｅｓｍｉｎ，Ｃｙｔｏｋｅｒａｔｉｎ，ＣＥＡ阴性。我们的资料支持该瘤起源于神经嵴的观点。     

富含色素性软组织透明细胞肉瘤1例

患者男,30岁。因发现左腋下黄豆大肿块2年余,经抗炎治疗无效且肿块逐渐增大而入院。体检：左腋下可触及一约鸡蛋大小肿物,质硬,活动度差,位置较深,表面较光滑,无触痛;其上被覆的皮肤和邻近皮肤以及全身皮肤、黏膜均未发现色素沉着或黑色素细胞的交界性病变。术中见肿块位于腋窝中央皮下浅筋膜下,呈浸润性生长,与周围组织粘连,质硬,呈黑褐色,即行肿块切除及填周围淋巴结清扫术。临床诊断：黑色素瘤。     

肾透明细胞肉瘤10例临床病理分析

目的探讨儿童肾透明细胞肉瘤(clear cell sarcoma of the kidney, CCSK)的临床病理学特征、免疫表型及鉴别诊断。方法回顾性分析10例CCSK的临床特征、病理学改变及免疫表型特征,并复习相关文献。结果 10例患者中男性8例,女性2例,发病年龄1～34岁,平均7岁,其中1例为34岁成人CCSK。临床症状均为腹部包块。7例获得随访,其中2例死亡,5例存活。10例中均有不同比例的经典型CCSK组织学形态,表现为胞质浅染、核染色质细腻、核仁不清楚的片状瘤细胞被呈树枝状分布的纤维血管间质分隔;此外,5例呈黏液样型、3例呈富于细胞型、2例呈硬化型和1例呈上皮样型。免疫表型:vimentin、BCL-2、EGFR、TLE1、Cyclin D1、BCOR、SATB2阳性率依次为100%(10/10)、90%(9/10)、90%(9/10)、90%(9/10)、80%(8/10)、30%(3/10)、10%(1/10);上皮性、肌源性、神经源性标记均为阴性。结论 CCSK是一种少见的儿童期恶性肾肿瘤,因其组织学亚型较多,需与多种肿瘤进行鉴别诊断,使用免疫组化vimentin...     

透明细胞软骨肉瘤临床病理诊断

目的探讨透明细胞软骨肉瘤的临床、影像学、病理学、生物学行为等特征以及病理鉴别诊断。方法报道4例透明细胞软骨肉瘤,对其临床、病理和随访资料作系统整理,并行免疫组化EnVision两步法S-100蛋白、Col Ⅱ和其它与鉴别诊断相关的蛋白标记。结果4例都是中老年男性,均位于长骨骨端,病程较长。X线表现为纯溶骨性骨质破坏,早期边界清楚,后期病灶扩大并向骨干方向延伸,但均未穿透骨皮质,不形成骨外软组织肿块。大体肿瘤灰白色,有弹性,其中2例伴动脉瘤性骨囊肿。镜下瘤细胞边界清楚,有分叶结构,胞质丰富透明或嗜酸性毛玻璃状。透明细胞之间有反应性新骨和破骨细胞样巨细胞增生。其中3例含低级别普通软骨肉瘤成分。免疫组化标记S-100蛋白和Col Ⅱ阳性。临床治疗和随访：例1行右股骨下端病灶刮除后6年原位复发,再作病骨切除和人工膝关节置换。例2行股骨颈肿瘤切除后植骨,缝匠肌骨瓣移植及内固定术,术后放疗。例3行股骨下端肿瘤切除后骨水泥填充,术后放疗。上述3例经2年4个月～7年随访情况均良好。例4行右股骨上端截除手术,术后失访。结论透明细胞软骨肉瘤是一种罕见的低度恶性软骨肉瘤,有不同于普通软骨肉瘤的临床、影像学和病理形态学特点。在病理诊断时既应注意与良性软骨母细胞瘤和骨母细胞瘤鉴别,也应与高度恶性透明细胞型骨肉瘤和转移性透明细胞癌鉴别。     

颞部软组织透明细胞肉瘤一例

患者女,37岁。因左颞部复发性肿瘤月余,于2003年3月31日就诊。1年半前发现局部肿块,缓慢生长,临床于11个月前行第1次手术切除,术中见肿瘤位于肌间筋膜内,略呈梭形,长径1.5cm,边界清,局部皮肤无色素痣。病理会诊意见为恶性黑色素瘤。遂入住上级医院行扩大切除术,病理报告未见残存肿瘤,术后进行了干扰素治疗和放疗。查体：浅表淋巴结不肿大,系统查体无异常发现。左颞部手术瘢痕旁深部触及肿块,直径约1cm,境界清,不活动,临床诊断恶性肿瘤术后复发,手术切除送检。     

儿童肾透明细胞肉瘤6例临床病理分析

目的探讨儿童肾透明细胞肉瘤(clear cell sarcoma of the kidney,CCSK)的临床病理学特征、诊断及鉴别诊断。方法采用免疫组化SP法对6例儿童CCSK进行临床资料及病理形态学观察,结合免疫表型分析并复习相关文献。结果6例患儿中男童4例,女童2例,其中5例为1~3岁,1例为7岁,影像学检查显示肾上极或下极肿块,考虑肾母细胞瘤。镜下见肿瘤细胞呈圆形或卵圆形,核仁不明显,细胞核及细胞质均为透明空泡样。肿瘤细胞由纤维组织分割,其内含多量毛细血管。结论儿童肾脏CCSK比较少见,恶性程度高,影像学上缺乏特异性,极易误诊为肾母细胞瘤,诊断主要依赖于病理检查及免疫表型,正确的诊断对临床治疗和预后判断有重要的指导意义。     

儿童肾透明细胞肉瘤3例临床病理分析并文献复习

目的 探讨儿童肾透明细胞肉瘤(clear cell sarcoma of kidney, CCSK)的临床病理学特征及分子特征。方法 收集3例CCSK的临床资料,采用免疫组化EnVision两步法检测vimentin、Cyclin D1、BCOR、TLE1等蛋白表达水平,分别采用Sanger测序和二代测序检测BCOR基因,并复习相关文献。结果 3例患者中男性2例,女性1例,发病年龄10个月～7岁,平均33个月,均行肾根治性切除术,随访14～36个月,均死亡,平均生存24个月。组织学上,3例均存在经典型区域,伴不同比例的坏死,2例部分区域呈黏液型,2例部分区域呈富于细胞型,1例呈硬化型。免疫表型：vimentin、Cyclin D1、BCOR、TLE1呈阳性,阳性率分别为100%(3/3)、100%(3/3)、100%(3/3)、33.3%(1/3),Ki-67增殖指数分别为10%、30%和10%,p53阳性率平均值约11.7%。分子特征：例1检测到BCOR基因点突变：c.5000C>T(p.S1667L)。例2、例3均未检测到BCOR基因改变。结论 CCSK是罕见的儿童恶性肿瘤,...     

原发性胃肠道透明细胞肉瘤2例并文献复习

目的：探讨原发性胃肠道透明细胞肉瘤( primary gas-trointestinal clear cell sarcoma, PGI CCS)的病理学形态、免疫表型、鉴别诊断及生物学行为。方法收集2例PGI CCS患者临床病史及随访资料,行病理形态学观察、免疫组化及分子生物学检测,并复习相关文献。结果肿瘤呈弥漫性或膨胀性浸润生长,细胞呈片、巢状,部分呈条束状排列,细胞大小一致,细胞核仁突出,胞质嗜酸性,少量核分裂象,伴破骨样多核巨细胞散在分布。免疫表型：肿瘤细胞弥漫表达 S-100、HMB-45、Melan-A、PNL-2、DOG1、CD117、CD34、desmin、SMA、PCK、CD56、Syn、CgA 等均呈阴性, Ki-67增殖指数约5%,破骨样多核巨细胞表达CD68、PNL-2;分子生物学FISH检测EWSR1基因重排。患者分别于术后18个月和21个月死亡。结论 PGI CCS罕见,侵袭性高,预后差,确诊需结合病理学形态、免疫表型及分子检测。 PGI CCS需与软组织透明细胞肉瘤、恶性黑色素瘤、恶性神经鞘膜瘤、转移性肾透明细胞癌、上皮样胃肠道间质瘤等鉴别。治疗主要以手术切除为主,个体化分子靶向治疗有待进一步分析。     

13例宫颈透明细胞腺癌临床病理及免疫组化分析

１３例与妊娠期宫内接触乙雌芪酚（ＤＥ８）无关的宫颈透明细胞癌１３例，占同期宫颈腺癌的３．９５％。随访有８例生存５年以上。病理组织学上微囊为主型４例，乳头－腺管为主型８例，实体片状为主型１例。通过形态学、ＡＢ／ＰＡＳ组化染色及ＥＭＡ、ＣＥＡ、ＰＲ、ＥＲ、Ｖｉｍｅｎｔｉｎ免疫酶标检测，结果证明该癌起自苗勒管上皮，为宫颈腺癌的一种特殊类型。     

肾透明细胞肉瘤的临床病理及免疫表型特征

目的 探讨肾透明细胞肉瘤（clear cell sarcoma of the kidney,CCSK）的临床病理特点、免疫表型特征及鉴别诊断。方法 应用HE和免疫组化vimentin、bcl-2、desmin、S-100蛋白、CD99、CD34、CDll7、CK、EMA染色,观察2例CCSK的病理组织学形态,并复习文献。结果 镜下见瘤细胞为上皮样或短梭形,被分枝状纤维血管间质分隔成巢团状,部分区域见黏液样变性微囊肿和细胞外胶原玻璃样变类似骨样组织的硬化型等形态变异。免疫组化示：瘤细胞vimentin和bcl-2弥漫阳性,余为阴性。结论 CCSK是一种罕见的儿童期恶性肾肿瘤,诊断主要依靠组织病理学和免疫组化,熟悉其形态学变异有利于与其它类似病变如肾母细胞瘤、先天性中胚叶肾瘤、肾恶性横纹肌样瘤、原始神经外胚叶肿瘤等鉴别。     

肢端黏液样炎性纤维母细胞肉瘤2例及文献复习

目的探讨肢端黏液样炎性纤维母细胞肉瘤的临床病理学特征及鉴别诊断。方法对2例发生在下肢末端的黏液样炎性纤维母细胞肉瘤进行光镜观察和免疫组化标记，并复习文献。结果2例发生在下肢末端的病程较长的渐进性肿块，术后局部复发。镜检：病变呈多结节状，边界不清；黏液样基质中见数量不等的各类炎细胞浸润，散在或灶性分布梭形、奇异形和多空泡状脂肪母细胞样3种形态的瘤细胞。免疫表型：肿瘤细胞Vim弥漫阳性，CD68和CD34灶性阳性，CK、SMA、HHF-35、S-100蛋白、CD45、CD45R0、CD15、CD30均阴性。结论此病病程较长，术后易局部复发，是一种低度恶性的肿瘤。鉴于病变黏液样基质及各类炎细胞浸润的背景较为突出，而特征性的瘤细胞稀疏，应注意与炎症性病变或具有相似组织形态的良性或恶性肿瘤鉴别。     

Clear cell sarcoma of soft tissue in right parapharyngeal region: report of a rare case

Clear cell sarcoma (CCS), initially named malignant melanoma of soft parts, is a rare malignant neoplasm typically involving deep soft tissue of the extremities, in close proximity to tendons and aponeuroses. Here we describe a case of clear cell sarcoma of the right parapharyngeal region in a young female aged 20 years. MRI detected a mass about 4.4 cm×3.4 cm×3.0 cm, located in the right parapharyngeal area and between the external pterygoid and the medial pterygoid. Microscopically, most of the tumor cells were epithelioid with palely eocinophilic cytoplasm arranged in sheets. Pleophorism of tumor cells were not marked. Immunohistochemical analysis shows that the tumor cells were positive for vimentin, S-100, HMB45 and MelanA, and negative for AE1/AE3, actin-sm, desmin, CD117, TFE-3, and P63. Ki67 index was about 5%.     

Clear cell sarcoma of the pancreas: a case report and review of literature

Clear cell sarcoma (CCS), is an uncommon malignant soft tissue neoplasm that displays melanocytic differentiation with a distinct molecular profile. It is very rarely localized in gastrointestinal tract. We reported the first case of a primary CCS arising in pancreas. A 36-year-old man presented with jaundice for one month. A preoperative abdominal computer tomography showed a low-density mass in the head of pancreas. Whipple procedure was performed and the tumor was resected. Pathological examination showed polygonal or fusiform cells arranged in a uniform nested to fascicular growth pattern with thin fibrous septa. Immunohistochemical studies revealed positivity for HMB-45, Melan A, S-100, MiTF and vimentin protein. Fluorescence in situ hybridization on paraffin section showed a translocation involving the EWSR1 gene region. No BRAF and NRAS mutation was detected. The patient underwent transcatheter arterial chemoembolization (TACE) six times and eventually died of diffuse liver metastasis 10 months later. This case illustrates that the pancreas is a potential site for primary clear cell sarcoma and molecular studies play an important role in making a conclusive diagnosis.     

腺泡状软组织肉瘤的临床病理分析

目的：观察腺泡状软组织肉瘤的临床及病理形态学特点,并探讨其组织发生方法：对12例腺泡状软组织肉瘤进行光镜观察,并对全部病例做组化及免疫组化染色。结果：12例腺泡状软组织肉瘤,男性4例,女性8例,发病年龄16－38岁（平均24岁）。发生部位主要位于四肢尤其是下肢的深部软组织,与骨髓肌关系密切。镜下瘤细胞呈胞泡状排列,周围为富含血窦的间质,瘤细胞质内含有丰富的嗜酸性颗粒,PAS全部阳性,免疫组化：SMA阳性率75％,desmin阳性率66．6％,myoglobin阳性率25％。结论：支持腺泡状软组织肉瘤的组织发生为横纹肌来源或向横纹肌分化。     

近端型上皮样肉瘤的临床病理学观察

目的探讨近端型上皮样肉瘤的临床病理特点、免疫表型及诊断和鉴别诊断。方法分析了6例近端型上皮样肉瘤的临床表现、影像学、组织学及免疫组化表达特点。免疫组化染色采用SP法。所用一抗包括CK(AE1/AE3)、EMA、vimentin、desmin、S-100、CA125、β-catenin、HMB45、CD117、CD99、CD34、MSA等。结果男性5例女性1例,年龄范围32～74岁(平均56岁)。临床上表现为近期迅速增大的软组织肿块并伴有疼痛及相应的功能障碍,肿块位于深筋膜或肌肉内。CT显示为软组织肿块影,密度与肌肉相近并有明显的不均匀强化;超声检查为实性低回声肿物,肿块内可见血流信号;MRI-T1加权显示等信号,MRI-T2加权显示高信号。肿块呈多结节状,缺乏包膜,直径3～25cm(平均7cm);切面灰白色及灰红色,质地偏软呈鱼肉样,灰白色区域质地偏韧。在组织学上,肿瘤主要由明显异型的上皮样细胞组成,上皮样细胞呈中等大小,或卵圆形,核仁明显,核分裂象易见,胞质嗜酸性,丰富,细胞界限不清,少部分细胞呈梭形并与上皮样细胞间有移行,此外还有部分瘤细胞为横纹肌样细胞,表现为核偏位,核形不规则,核仁不明显,胞质丰富,嗜酸性,并有核内包涵体;肿瘤坏死明显并侵及横纹肌、骨等周围组织。随访结果:3例病人术后复发,2例患者死于广泛转移。免疫组化染色显示主要表达EMA(6/6)、vimentin(6/6)、AE1/AE3(5/6)、CD99(5/6)、β-catenin(6/6)、CD34(4/6),而HMB45、S-100、CD117、CD31等均为阴性。结论近端型上皮样肉瘤是一中度恶性肿瘤,其组织学形态主要表现为上皮样细胞和横纹肌样细胞,需与具有类似细胞形态的多种肿瘤鉴别;结合免疫表型,对诊断很有帮助。     

Clear cell sarcoma of the small bowel: a potential pitfall. Case report

Clear cell sarcoma (soft-part melanoma) is a very rare entity with a distinctive histopathologic and molecular profile. Herein, we present the sixth reported case of a primary gastrointestinal clear cell sarcoma discovered in a 21-year-old woman. The patient underwent numerous tests prior to the diagnosis of her small bowel pathology, including the use of capsule endoscopy, which allowed for visualization and final localization of the tumour. Additionally, we discuss this rare type of sarcoma that affects young adults and has a poor prognosis characterized by the balanced chromosomal translocation t(12;22)(q13;q12) with special emphasis on the necessity for pathologists to be able to distinguish it from melanoma -- potentially a major pitfall in diagnosis.     

子宫内膜间质肉瘤9例临床病理分析

目的 探讨子宫内膜间质肉瘤(endometrial stromal sarcoma,ESS)的临床病理特征、诊断、鉴别诊断及预后.方法 对9例ESS患者进行临床、病理资料分析、免疫组化检测及随访.结果 患者年龄39～64岁,中位46.3岁.临床主要表现为阴道流血及子宫增大/占位.肿瘤直径2.3～11 cm,平均4.6 cm.光镜下8例呈低度恶性子宫内膜间质肉瘤(low grade endometrial stromal sarcoma,LGESS),均由类似增殖期子宫内膜间质肿瘤细胞构成,细胞密集,异型性不明显,呈不规则舌状或岛状浸润肌层,并伴较多薄壁螺旋小血管;1例为高度恶性子宫内膜间质肉瘤/未分化子宫内膜肉瘤(high grade endometrial stromal sarcoma/undifferentiated endometrial sarcoma,HGESS/UES),肿瘤细胞直接替代子宫肌层,具有明显的细胞异型性,无LGESS常见的螺旋小血管.免疫组化检测显示肿瘤细胞CD10、vimentin均阳性,PR、ER大部分阳性,SMA和desmin及h-Caldesmon为极少数局灶阳性,S-100、CD34均阴性.术后随访7例(平均53个月),只有1例HGESS/UES死亡.结论 ESS是女性生殖道很少见的一种恶性肿瘤,恶性度相差很大.确诊主要依靠其临床病理特点,并辅以免疫组化标记综合分析.诊断时要与子宫内膜间质结节、平滑肌肿瘤、低分化癌等鉴别.     

Clear cell sarcoma of the ileum: report of a case and review of literature

Clear cell sarcoma (CCS) is a high grade soft tissue sarcoma with a distinct molecular profile and with morphological features resembling those of melanoma. CCS has been rarely described in other locations other than the soft tissues, including the gastrointestinal tract. In this study, we report a case of CCS arising in the ileum of a 31-year-old woman. Histologically, the tumor involved the entire thickness of the intestinal wall. Tumor cells were polygonal or fusiform, with clear or eosinophilic cytoplasm, arranged in a uniform nested to fascicular growth pattern. Immunohistochemical studies revealed strong positivity for vimentin and S-100 protein. HMB-45, Melan-A, tyrosinase, cytokeratins, EMA, smooth muscle actin, CD34, CD31, CD117, CD99, synaptophysin, chromogranin A, CD56, and NSE were negative. Fluorescence in situ hybridization analysis demonstrated the presence of a t(12;22)(q13;q12) translocation, the diagnostic hallmark of CCS of soft parts. The present case, together with a detailed review of the literature on this topic, demonstrates that the gastrointestinal tract is a possible site of CCS of soft tissues and that making a reliable diagnosis of this tumor requires cytogenetic or molecular diagnostic investigations.     

Clear cell sarcoma of tendons and aponeuroses (malignant melanoma of soft parts) in the duodenum: the first visceral case

An ulcerated tumour was removed by a Whipple's operation from the descending part of the duodenum of a 38-year-old male. The tumour cells were mainly spindle-shaped, arranged in nests and had very prominent nucleoli. A few cells contained melanin and melanosomes. Immunoreactivity for S-100 protein and focally for HMB-45 was observed. These features are diagnostic for clear cell sarcoma of tendons and aponeuroses. Because no other primary tumour could be found and the search for similar cases from the literature was unsuccessful, we believe that this tumour is the first reported clear cell sarcoma in a visceral location.