含破骨巨细胞、有类似软组织透明细胞肉瘤特点的胃肿瘤一例

患者男,40岁。因无明显诱因下出现阵发性上腹部不适1年余,胃镜检查为“胃体平滑肌瘤”,于2004年9月12日入院。入院后体检全身皮肤正常,浅表淋巴结未及肿大,既往无其他部位肿瘤病史。遂在全身麻醉下行胃大部切除术,术中见肿瘤位于胃窦体后壁,大小约5cm×4cm×3cm,肿瘤向外侵及并穿透浆膜层,与周围组织粘连。病理检查:切除的远端大部胃一个,胃小弯长12cm,胃大弯长9cm,在胃体小弯侧肌壁内见一结节状肿块,大小3cm×3cm×2cm,肿块切面灰白灰褐色,肿块表面胃黏膜完整,与胃黏膜之间境界清楚,肿瘤组织侵及并穿透浆膜层,与周围组织粘连。肿块周围淋巴…     

Mesenteric fibromatosis with involvement of the gastrointestinal tract. A GIST simulator: a study of 25 cases

Mesenteric fibromatosis (MF) and gastrointestinal stromal tumors (GISTs) are distinct lesions, but they often are confused with each other. Correct identification is essential because of their vastly different therapeutic and prognostic connotations. We reviewed 25 cases of MF with involvement of the wall of the gastrointestinal tract and found that GIST was the most common misdiagnosis (13 [52%]). MF was characterized by a spatially homogeneous proliferation of wavy spindle cells without atypia, associated with collagen deposition (often of the keloidal type), and an infiltrative border. Most cases displayed prominent muscular arteries and dilated, thin-walled veins. The mitotic count was relatively low, and no atypical mitotic figures were identified. These features are sufficiently characteristic of MF to permit distinction from GIST on the basis of routinely stained sections in the large majority of the cases, but immunohistochemical analysis provides a supporting role in the few equivocal cases.     

Keratin immunoreactivity in melanoma of soft parts (clear cell sarcoma)

Seven of 24 soft tissue melanomas were shown to express keratins using antibodies CAM 5.2, LP34 and MNF116. No clinical or histological differences were seen in these seven cases when compared with the 17 keratin negative cases.     

Cytologic features of clear cell sarcoma (malignant melanoma) of soft parts: a study of fine-needle aspirates and exfoliative specimens

We describe the cytologic features of clear cell sarcoma of soft tissue (CCS) in 11 fine-needle aspiration biopsy (FNAB) specimens and 6 exfoliative specimens from 11 patients. In 3 patients, FNAB was the initial method of tumor evaluation. In 6 of 11 cases, immunostaining with S-100 or HMB-45 was evaluated. Electron microscopic evaluation was performed in 1 case. Both the FNAB and exfoliative specimens varied in overall cellularity, although reproducible cytologic features were identified. A significant diagnostic pitfall, namely the potential of CCS to form microacinar structures mimicking adenocarcinoma, is described with particular reference to CCS metastatic to regional lymph nodes. A rare case of the granular cell variant of CCS is illustrated as well. Owing to the rarity of CCS, the diagnosis on cytologic smears is extremely difficult and is aided substantially by pertinent clinical data. The diagnosis can be made conclusively by     

Ultrastructure in resolving a diagnosis of poorly differentiated clear cell sarcoma of soft parts in an adolescent male

Clear cell sarcoma of soft parts is a rare tumor in children and it requires a high index of suspicion for accurate diagnosis. Early diagnosis leads to radical surgical excision and limits the aggressive behavior of this tumor. We report a case of a 12-year-old boy with a recurrent soft-tissue tumor in the scalp, misdiagnosed on three occasions as epitheloid sarcoma owing to the poorly differentiated appearance of cells. In spite of focal S-100 expression, this tumor was not recognized as a tumor of melanocytic origin till melanosomes were demonstrated on electron microscopy (EM). Detection of melanosomes on electron microscopy helped in clinching the histology diagnosis, reiterating the definite role of EM in diagnosing these tumors. Failure to accurately diagnose this tumor resulted in institution of preoperative chemotherapy, delayed surgical excision, tumor progression and death of patient within a year and half of presentation.     

Cytogenetic findings in clear cell sarcoma of tendons and aponeuroses. Malignant melanoma of soft parts

Cytogenetic analyses of clear cell sarcomas from two patients are reported. Clonal numerical and structural abnormalities were detected in both specimens, with specific involvement of chromosomes 2 and 22 in each.     

腺泡状软组织肉瘤16例临床病理分析

目的探讨腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)的临床病理、免疫表型以及分子遗传学特征。方法对16例ASPS进行临床病理学、细胞化学和免疫表型观察,其中2例行FISH检测。结果 16例ASPS中男性6例,女性10例,发病年龄8~58岁(中位年龄31.7岁),临床表现为局部缓慢生长的肿块。肿瘤发生部位包括四肢、肩背部、舌、声带、肺、子宫颈、输尿管。镜下见典型的器官样或腺泡状结构,形成窦隙状血管及纤维间隔,肿瘤胞质内含丰富嗜酸性颗粒。PAS染色显示肿瘤细胞内可有结晶体形成,免疫组化标记肿瘤细胞TFE3阳性,FISH检测肿瘤细胞存在ASPL-TFE3基因融合。结论 ASPS好发于青少年,肿瘤好发部位为四肢,少见部位(舌、声带、子宫颈、输尿管等)发生的ASPS易被误诊为上皮性恶性肿瘤。病理诊断时需与原发或转移性腺癌、副神经节瘤鉴别。肿瘤细胞形成典型的腺泡状结构并且免疫组化标记TFE3和组织蛋白酶K对诊断有意义,诊断时需结合ASPL-TFE3基因融合检测技术。     

Schwannomas of the gastrointestinal tract: clinicopathological features of 12 cases including a case of esophageal tumor compared with those of gastrointestinal stromal tumors and leiomyomas of the gastrointestinal tract

We analyzed the clinicopathological features of 12 gastrointestinal (GI) schwannomas and compared them with those of 37 GI stromal tumors (GISTs) and 15 leiomyomas. Grossly, the schwannomas showed rubbery to firm, yellow-white to tan, glistening, and often trabeculated cut surfaces, resembling soft tissue schwannomas. The GISTs were firm to soft or fish-flesh tan, gray-pink, or variegated tumors with a degenerative change, and the leimyomas resembled typical uterine leiomyomas. Histologically, GI schwannomas were moderately cellular tumors with focal significant nuclear pleomorphism and rare mitotic figures. A characteristic peripheral lymphoid cuff was observed in all cases, but was indistinct in two cases. The GISTs were highly cellular spindle cell, epithelioid or, occasionally, pleomorphic tumors with basophilic appearance. Leiomyomas were paucicellular tumors with eosinophilic appearance. Immunohistochemically, schwannomas were S-100 protein- and glial fibrillary acidic protein (GFAP)-positive, but were negative for c-kit, CD34, and smooth muscle actin (SMA). GISTs were all c-kit- and/or CD34-positive, but GFAP-negative. Leiomyomas were SMA-positive and were negative for c-kit, CD34, S-100 protein, and GFAP. The mean Ki-67 index of schwannoma was 0.7, and those of GIST and leiomyoma were 5.9 and 0.3, respectively. The patients with schwannomas and leiomyomas had a favorable outcome, whereas 12 patients with GISTs showed progression and died of disease. The separation of GISTs from schwannomas is clinically important because the former group has a high risk of malignant behavior. GI schwannomas differed from the conventional soft tissue schwannomas in that they had peripheral lymphoid cuffs, lacked fibrous capsule and vascular hyalinization, and rarely showed degenerative changes. GI schwannomas, however, resembled soft tissue schwannomas in many aspects, and the clinical, gross, histological, and immunohistochemical features were different from those of GISTs and leiomyomas.     

Mismatch repair protein expression and microsatellite instability: a comparison of clear cell sarcoma of soft parts and metastatic melanoma.

Clear cell sarcoma of soft parts is a rare soft tissue malignancy that shows phenotypic overlap with cutaneous melanoma but can be distinguished by the presence of a t(12;22) translocation. Microsatellite instability (MSI), a variation in the lengths of short repeat DNA segments in the genome, has been implicated in melanoma tumorigenesis, but is rare or absent in clear cell sarcoma. Defects in the mismatch repair (MMR) enzyme complex correlate with MSI in some tumor types, allowing the use of immunohistochemistry for the MMR proteins hMLH1 and hMSH2 to predict the presence of MSI. To determine if the association between MMR defects and MSI extends to clear cell sarcoma, we compared a group of nine clear cell sarcomas to 11 metastatic melanomas on the basis of MSI and the expression of MMR proteins. MSI was studied using fluorescence-based multiplexed PCR of five loci. Immunohistochemistry was evaluated on formalin-fixed paraffin-embedded tissue for hMLH1, hMHS2 and hMSH6. MSI was present in only 1/9 (11%) clear cell sarcoma case and in 8/11 (73%) melanoma cases. Immunostaining for hMLH1 and hMSH2 was preserved in all the clear cell sarcomas but loss of immunostaining for one or both proteins was seen in 6/11 melanomas (55%). hMSH6 was detected in 7/9 (78%) clear cell sarcomas and 10/11 (91%) of melanomas. Clear cell sarcoma and metastatic melanoma differed significantly with respect to the presence of MSI (P=0.010) and staining for hMLH1 and/or hMSH2 (P=0.014) but not hMSH6 (P=0.57). Mismatch repair, and consequently genomic instability may contribute to tumorigenesis in melanoma but not clear cell sarcoma. Immunostaining for hMLH1 and hMSH2 and MSI analysis may be helpful in the differential diagnosis of large soft tissue or visceral malignancies with melanocytic differentiation.     

类似卵巢性索肿瘤的子宫肿瘤6例临床病理分析

目的 探讨类似卵巢性索肿瘤的子宫肿瘤(uterine tumor resembling ovarian sex cord tumor,UTROSCT)的临床病理学特征、分子遗传学改变及其鉴别诊断.方法 回顾性分析6例UTROSCT的临床病理学特征、免疫表型等.采用FISH检测JAZF1基因及NCOA2基因易位情况,并复...     

Clear cell sarcoma (malignant melanoma of soft parts): fine-needle aspiration cytology of a highly pigmented tumor

Diagnosis of clear cell sarcoma by fine-needle aspiration is difficult, as melanin is usually absent. Here we describe a case of a primary clear cell carcinoma with abundant melanin, making diagnosis definitive.     

Pigmented clear cell sarcoma of soft tissue: an important diagnostic mimic

Clear cell sarcoma of soft tissue (CCSST) is a rare and aggressive soft tissue tumour associated with tendons and aponeuroses of the lower extremities. Due to its melanocytic differentiation, distinguishing CCSST from melanocytic neoplasms and other pigmented lesions can be challenging. We report a peculiar case of CCSST and discuss the histological, immunohistochemical and molecular features which can aid in accurate diagnosis of this entity.     

Pleomorphic hyalinizing angiectatic tumor of soft parts: ultrastructural analysis of a case with original features

Pleomorphic hyalinizing angiectatic tumor, a rare neoplasm of uncertain lineage resembling malignant fibrous histiocytoma and schwannoma, was first described in 1996 by M. E. F. Smith et al. (Am Surg Pathol. 20:21-29). To date, less than 100 cases have been reported in the international literature. It occurs in subcutaneous and intramuscular soft tissues of extremities or trunk in adults without sex predilection. All lesions are composed of sheets and fascicles of spindled and pleomorphic cells associated with clusters of thick-walled ectatic vessels surrounded by a perivascular hyaline material and inflammatory cells such as mast cells. About one-half of these neoplasms express CD34. No patient has developed metastases but occasional local recurrences are possible. This tumor of uncertain lineage is suggested to be an aggressive locally growing low-grade sarcoma. Only 3 cases were previously studied by electron microscopy and appeared to consist of primitive fibroblastic cells. The authors report histological and ultrastructural characteristics of a new case of PHAT excised from the right buttock of a 66-year-old man with the presence of ganglion-like cells, a feature that has not been previously reported, and unusual central ischemic necrosis. The features of this case are suggestive of a fibroblastic origin.     

软组织骨化性纤维粘液样瘤八例临床病理分析

目的：研究软组织骨化性纤维粘液样瘤（OFT）的病理形态学特点和免疫组织化学表型,并探讨其组织发生,方法：采用光镜观察（HE）和免疫组织化学标记（LSAB法）结合临床资料对8例软组织骨化性纤维粘液样瘤进行临床病理学分析。结果：8例患者均为中老年人,年龄43－78岁,平均63岁,临床上多表现为四肢近端皮下缓慢性生长的肿块,组织学上,该肿瘤归纳起来有以下3个持征性的形态,比较独特,具有诊断性意义：（1）肿瘤境界清楚,有一层厚的纤维性假包围绕,多数病例于包膜内可见一层薄的不连续性骨壳,由成熟的化生性板层骨组成;（2）肿瘤的实质由多个大小不一,细胞密度不均的小叶组成,小叶内的瘤细胞呈圆形,卵圆形或短梭形,胞质淡染或呈嗜伊红色,核染色质细致,核分裂象偶见;（3）瘤细胞呈特征性的巢状,条束状或纤细的网格六排列,肿瘤的基质呈特征性的纤维粘液样,7例行免疫组织化学标记,结果显示瘤细胞强阳性表达波形蛋白和神经元特性烯醇化酶（7／7）,多数表达S－100蛋白（6／7）,部分表达结蛋白（2／7）,7例均有随访资料,2例分别于术后2年及15年复发。结论：软组织骨化性纤维粘液样瘤是一种好发于中老年人的具潜在低度恶性的软组织肿瘤,其特征性的骨壳结构,独特的细胞形态及其排列方式具有诊断意义。免疫组织化学检测结果支持OFT起源于雪旺细胞。     

软组织多形性玻璃样变血管扩张性肿瘤的临床病理学观察

目的探讨软组织多形性玻璃样变血管扩张性肿瘤(pleomorphic hyalinizing angiectatic tumor of soft parts,PHAT)的临床病理特点。方法回顾性分析6例PHAT的临床资料、组织学形态和免疫组化标记,并复习相关文献。结果6例均发生于成年人,男性和女性各占3例,平均年龄为44岁。肿瘤分别位于下肢(3例)、颈部(2例)和腹膜后(1例)。临床上多表现为无痛性肿块,术前病程为3个月~38年。大体上,肿瘤境界清楚,结节状,平均直径为4.3 cm。切面呈灰白、灰红或灰褐色,部分病例可见出血性囊腔。镜下,肿瘤内含有成簇分布的薄壁扩张血管,血管壁附有一层厚的玻璃样变物质(纤维素和胶原纤维),可向血管周围间质内延伸,血管之间为片状分布的多形性瘤细胞,核大深染,核内可见假包涵体,但核分裂象罕见。部分区域内瘤细胞呈梭形,排列成条束状,类似神经鞘瘤。免疫组化标记显示,瘤细胞主要表达vimentin,部分病例还表达CD34和CD99,而S-100蛋白、α-SMA、bcl-2、EMA和CD68均为阴性。6例均经手术切除,随访8个月~13年,无1例复发。结论PHAT是一种具有低度恶性潜能的软组...     

Myxoid epithelioid gastrointestinal stromal tumor (GIST) with mast cell infiltrations: a subtype of GIST with mutations of platelet-derived growth factor receptor alpha gene

We analyzed 30 gastrointestinal stromal tumors (GISTs) that were immunohistochemically weak or negative for KIT. Histologically, all 30 GISTs consisted of epithelioid tumor cells in at least a part of the tumor. The tumor cells showed different morphologies and arranged themselves in different histological patterns. In 20 of the 30 GISTs, round or oval epithelioid tumor cells often showed a less cohesive pattern of growth and showed eosinophilic cytoplasm and peripherally placed nuclei with myxoid stroma, whereas in the remaining 10 cases, tumor cells were arranged in a more cohesive pattern without myxoid stroma. The former type of tumors is called myxoid epithelioid GISTs in this study. Subsequent mutational analyses showed that the platelet-derived growth factor receptor alpha (PDGFRA) gene mutations in exon 12 or exon 18 were identified in 20 (66.7%) of the 30 GISTs, and especially in 18 (90%) of the 20 myxoid epithelioid GISTs. Moreover, 17 (85%) of the 20 myxoid epithelioid GISTs were accompanied by mast cell infiltrations within the tumor nodules. In the remaining cases, 2 (6.7%) of the 30 GISTs had c-kit gene mutations in exon 11, and no mutation was found in 8 (26.7%) of 30 GISTs. None of the patients with myxoid epithelioid GISTs died of disease. These results suggest that myxoid epithelioid GISTs are a distinct subtype of GISTs that are closely correlated with the PDGFRA gene mutation and that recognition of such histological characteristics should be helpful for molecular subclassification of GISTs that are important for molecular targeting therapy by imatinib mesylate (STI571).     

Metastatic epithelioid gastrointestinal stromal tumor: yet another tumor with anemone cell features

Since 1980 when Sibley and coworkers first described a nodal neoplasm of unknown histogenesis with striking surface microvilli for which they introduced the term "anemone cell," a series of reports have appeared in the literature illustrating tumors with similar ultrastructural features. While most reported cases showed differentiation along a particular line, rare cases remained histogenetically unclear. In this report a case is described of epithelioid gastric gastrointestinal stromal tumor metastatic to the liver, showing conspicuous long microvillus-type cell processes partially or circumferentially coating the cell surfaces, thus qualifying as yet another tumor type with anemone cell features.