睾丸旁促结缔组织增生性小圆细胞肿瘤一例

患者男,64岁.左侧阴囊内肿块伴阴囊渐进性肿大2年余,初次发现时无任何自觉症状,肿块约鸡蛋大小,而后缓慢逐渐增大,历经2年多时间,肿瘤体积增大2倍多,近半年来局部轻微胀痛,偶有刺痛感,无尿频、尿急、尿痛、肉眼血尿等泌尿系统症状,亦无畏寒发热、恶心呕吐、消瘦等全身表现.     

Two autopsy cases of desmoplastic small round cell tumor

Desmoplastic small round cell tumor (DSRCT) is a rare aggressive malignant tumor. It is a refractory tumor and the median overall survival is very short. We report two autopsy cases of DSRCT, both of which were already advanced and metastasized at the first medical examination. Both cases showed typical DSRCT findings in terms of localization of the lesions, histopathology and genetics, but the rate of disease progression was quite different. Survival after initial symptoms in Case 1 was only 12 months. On the other hand, survival after primary hospitalization in Case 2 was 42 months. The Case 2 patient initially received chemotherapy for advanced pancreatic carcinoma, because a nodule of the pancreatic tail was found on computed tomography (CT) scan. After chemotherapy, tumor regression was observed on CT scan. It is thus implied that adoption of the regimen for pancreatic carcinoma might have been one of reasons of the long survival in Case 2.     

Intraabdominal desmoplastic small round cell tumor: Cytopathologic findings in two cases

Intraabdominal desmoplastic small round cell tumor (DSRCT) is an extremely rare entity. This study describes fine-needle aspiration, ascitic fluid, and touch imprint cytomorphology of DSRCT in 2 patients with extensive abdomino-pelvic disease. Cytopathologic features were unique and showed good morphologic correlation with subsequent histology of the resected tumor. Immunocytochemical profile and differential diagnosis with other small round cell tumors in this age group are also discussed. Diagn. Cytopathol. 1998;18:449–452. © 1998 Wiley-Liss, Inc.     

Fine-needle aspiration of intra-abdominal desmoplastic small cell tumor

The cytologic features of four cases of histologically confirmed intra-abdominal desmoplastic small cell tumor (DSCT) that occurred in males between 18-27 yr of age are presented. Smears showed small cells with scant cytoplasm which were primarily arranged in loosely cohesive clusters. Nuclei were oval to round with evenly distributed, finely granular chromatin and inconspicuous nucleoli. As is typical of DSCT, the cells strongly expressed keratin and desmin in all cases. In the one case studied by electron microscopy, it was demonstrated that the cells were joined by small junctions and contained paranuclear aggregates of intermediate filaments. The absence of the characteristic desmoplastic stroma in DSCT aspirates and the nonspecific cytologic features of this small round-cell tumor (SRCT) made cytologic interpretation difficult. Cytopathologists should be aware of this entity so that DSCT is included in the differential diagnosis of SRCTs that occur in intra-abdominal sites. A panel of markers that includes keratin and desmin should be used to assist in the identification of DSCT.     

Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation

We report a case of desmoplastic small round cell tumor occurring in the right ilium of a 13-year-old boy. Morphologically, the neoplasm consisted of small round cells of primitive appearance with a diffuse growth pattern replacing marrow space and eroding bone. Immunohistochemical staining was positive for vimentin, synapsin, CD99 (MIC2 protein), and FLI-1, prompting an initial diagnosis of Ewing sarcoma/primitive neuroectodermal tumor. However, a diagnosis of desmoplastic small round cell tumor was rendered after the detection by cytogenetic analysis of the reciprocal chromosomal translocation, t(11;22)(p13;q12), which is uniquely associated with this tumor. This is the first documented instance of desmoplastic small round cell tumor arising in bone.     

Unusual aspects of desmoplastic small round cell tumor

Desmoplastic small round cell tumor (DSRCT) is a neoplasia that occurs mainly in childhood and involves abdominal or peritoneal sites, coexpressing ectodermal and mesenchimal immunophenotypic markers, and is endowed with an impressive stromal desmoplasia that tends to decrease on tumor relapse. To date, over 150 cases have been collected in the literature. Its presumed neuroectodermal histogenesis has been challenged by cytogenetic findings different from those usually associated with neoplasms of neuroectodermal origin. The authors report a case bearing clinical and histologic aspects of typical desmoplastic retroperitoneal small cell tumor, with intense and diffuse nuclear immunopositivity for WT1, but lacking divergent immunophenotype. Ultrastructural investigation revealed that desmoplasia could result from fibrillary synthesis by neoplastic cells.     

Pathologic, cytologic and immunohistochemical findings of an intra-abdominal desmoplastic small round cell tumor in a 15-year-old male

The intra-abdominal desmoplastic small round cell tumor is a rare neoplasm. It usually occurs in young males and diffusely involves the peritoneum and pursues an aggressive clinical course. The present patient was a 15-year-old male who experienced abdominal pain and abdominal swelling. The patient was diagnosed with an intestinal myogenic sarcoma, and surgery for tumor resection was performed in June 1999. The tumor was a 20 x 15 x 15 cm well-defined mass in the peritoneum involving the transverse colon and stomach with peritoneal disseminations and splenic metastasis. Microscopic findings were well-defined nests composed of small round cells and separated by abundant desmoplastic stroma. Cytologically, the tumor cells consisted of small, round to oval cells with a scant amount of light blue cytoplasm. Immunohistochemically, the tumor cells were positive for anti-epithelial membrane antigen, vimentin, desmin, neuron-specific enolase and WT1 protein antibodies. Similar pathologic features with other small round cell tumors may lead to differential diagnostic difficulties that require the application of ancillary diagnostic methods, such as immunohistochemistry and cytogenetic techniques.     

促纤维化小圆细胞肿瘤5例临床病理、免疫组化及电镜观察

目的：观察５例促纤维化小圆细胞肿瘤的临床病理特点,提高对此类肿瘤的认识。方法：常规组织学（ＨＥ）、免疫组化（ＡＢＣ法）和电镜技术检测结合临床资料综合分析。结果：５例中２例多次局部复发,２例在随访中,１例确诊后４个月死亡。该肿瘤组织学特点为肿瘤组织呈单结节或多结节状浸润生长,伴有明显致密的成熟纤维性间质增性,肿瘤细胞主要为大小比较一致的小圆形细胞,呈团状或巢状埋于增生纤维间质中,少数病例部分区域肿瘤     

Biphasic intra-abdominal desmoplastic small cell tumor in a patient with proximal spinal muscular atrophy

A case is reported of intra-abdominal desmoplastic small cell tumor (IDSCT) with biphasic histologic features in a patient with proximal spinal muscular atrophy. The tumor was composed of small epithelial cell nests with spindle cell sarcomatous areas. Both areas were surrounded by a desmoplastic stroma. Immunohistochemical studies revealed reactivity for low molecular weight cytokeratin, epithelial membrane antigen, vimentin, desmin and Leu-7 in both areas. Electron microscopic examination demonstrated paranuclear aggregates of intermediate filaments, zonula adherens and basement membrane-like material in the epithelial cells, while spindle cells in the tumor had fewer intracytoplasmic organelles. However, intermediate or transitional forms of both types of tumor cells were frequently observed. Although IDSCT are known to express multi-phenotypes immunohistochemically, attention should be paid to the broad spectrum of cell morphology in these tumors.     

Biphasic intraabdominal desmoplastic small round cell tumor: Fine-needle aspiration cytology findings

The present report describes the case of a 9-yr-old boy with an abdominal desmoplastic small round cell tumor (DSRCT) which on fine-needle aspiration cytology and histology revealed a biphasic pattern, making initial diagnosis difficult. Epithelial-like clusters of cells and loosely-arranged poorly-differentiated cells with scant cytoplasm associated with cells having a larger nucleus and multinucleated larger cells represented the smears' counterpart of epithelial clusters and lobules and sarcomatous-like tissue recognized in the histologic sections. Multinucleated cells were common in the sarcomatous-like areas of the tumor. The biphasic pattern was highlighted by immunohistochemistry. Keratin and epithelial membrane antigen stained predominantly or only the epithelial component, while desmin diffusely decorated the sarcomatous areas and the epithelial cells as a paranuclear cytoplasmic dot. Immunosera 013 mainly stained the sarcomatous component. © 1995 Wiley-Liss, Inc.     

促纤维组织增生性小圆细胞肿瘤2例报道及文献复习

目的 探讨促纤维组织增生性小圆细胞肿瘤的临床病理特点,提高诊断水平.方法 对2例本病少见部位发生者临床病理资料进行分析,并行组织病理学(HE)和免疫组化(SP法)观察.结果 该肿瘤多呈单结节或多结节状浸润性生长,瘤细胞小圆形、核深染、胞质少,呈团、巢状排列,间质有大量增生的纤维结缔组织.免疫表型同时表达上皮性、间叶性和神经源性标记物.结论 促纤维组织增生性小圆细胞肿瘤罕见,临床表现复杂,可发生在腹腔也可在其他部位.肿瘤具有特征性的组织学和免疫组化表现.预后大多较差.     

Translocation (11;22)(p13;q12): Primary change in intra-abdominal desmoplastic small round cell tumor

We present the cytogenetic findings in a case of a newly described tumor of childhood, intra-abdominal desmoplastic small round cell tumor (IADSRCT). The karyotype demonstrated a single chromosomal translocation, (11;22)(p13;q12). © 1993 Wiley-Liss, Inc.     

Epithelial marker-negative desmoplastic small round cell tumor with atypical morphology: definitive classification by fluorescence in situ hybridization

Desmoplastic small round cell tumor typically presents with abundant desmoplastic stroma containing nested primitive round cells bearing a polyphenotypic immunohistochemical profile. Lesions with minimal classic morphology pose a formidable diagnostic challenge. The current case represents one such example, arising as a large abdominal-pelvic mass in a 17-year-old female patient. The tumor was composed of a monomorphous population of small round cells lining microcystic structures and forming pseudoacini and fine anastomosing trabeculae and cords. The stroma was abundantly myxoid with only occasional thick desmoplastic septa. The tumor cells were variably immunopositive for vimentin, desmin, smooth muscle actin, synaptophysin, neuron-specific enolase, Bcl-2 and WT1 (nuclear); epithelial markers were negative. The definitive diagnosis of desmoplastic small round cell tumor was rendered with the demonstration of the characteristic EWS-WT1 gene fusion by fluorescence in situ hybridization. The current case emphasizes the utility of fluorescence in situ hybridization to demonstrate EWS-WT1 gene fusion in desmoplastic small round cell tumor with nonclassic morphologic and immunohistochemical features to avoid potential misdiagnosis.     

卵巢促纤维增生性小圆细胞肿瘤一例

患者女,37岁.因原发闭经、卵巢肿物4个月入院.患者曾于2008年10月在外院行双侧附件切除术,术中见肿物位于卵巢,盆腔其他部位未见肿物,术后病理不详.4个月后肿瘤复发,遂于2009年3月在北京协和医院行子宫、大网膜、回盲部等二次手术切除.